|
Enzyme 1
[top]
|
| Enzyme 1 ID |
5865 |
| Enzyme 1 Name |
Ubiquitin-conjugating enzyme E2 E3 |
| Enzyme 1 Synonyms |
- Ubiquitin-protein ligase E3
- Ubiquitin carrier protein E3
- Ubiquitin-conjugating enzyme E2-23 kDa
- UbcH9
- UbcM2
|
| Enzyme 1 Gene Name |
UBE2E3 |
| Enzyme 1 Protein Sequence |
>Ubiquitin-conjugating enzyme E2 E3
MSSDRQRSDDESPSTSSGSSDADQRDPAAPEPEEQEERKPSATQQKKNTKLSSKTTAKLS
TSAKRIQKELAEITLDPPPNCSAGPKGDNIYEWRSTILGPPGSVYEGGVFFLDITFSSDY
PFKPPKVTFRTRIYHCNINSQGVICLDILKDNWSPALTISKVLLSICSLLTDCNPADPLV
GSIATQYLTNRAEHDRIARQWTKRYAT
|
| Enzyme 1 Number of Residues |
207 |
| Enzyme 1 Molecular Weight |
22913 |
| Enzyme 1 Theoretical pI |
7.25 |
| Enzyme 1 GO Classification |
| Function |
- catalytic activity
- small protein activating enzyme activity
- ubiquitin-like activating enzyme activity
|
| Process |
- biopolymer metabolism
- biopolymer modification
- macromolecule metabolism
- metabolism
- physiological process
- protein modification
- ubiquitin cycle
|
| Component |
| — |
|
| Enzyme 1 General Function |
Not Available |
| Enzyme 1 Specific Function |
Catalyzes the covalent attachment of ubiquitin to other proteins. Participates in the regulation of transepithelial sodium transport in renal cells. May be involved in cell growth arrest |
| Enzyme 1 Pathways |
- Ubiquitin mediated proteolysis (map04120
)
|
| Enzyme 1 Reactions |
- ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine
|
| Enzyme 1 Pfam Domain Function |
|
| Enzyme 1 Signals |
|
| Enzyme 1 Transmembrane Regions |
|
| Enzyme 1 Essentiality |
Not Available |
| Enzyme 1 GenBank ID Protein |
4586930  |
| Enzyme 1 UniProtKB/Swiss-Prot ID |
Q969T4  |
| Enzyme 1 UniProtKB/Swiss-Prot Entry Name |
UB2E3_HUMAN  |
| Enzyme 1 PDB ID |
Not Available |
| Enzyme 1 Cellular Location |
Not Available |
| Enzyme 1 Gene Sequence |
>624 bp
ATGTCCAGTGATAGGCAAAGGTCCGATGATGAGAGCCCCAGCACCAGCAGTGGCAGTTCA
GATGCGGACCAGCGAGACCCAGCCGCTCCAGAGCCTGAAGAACAAGAGGAAAGAAAACCT
TCTGCCACCCAGCAGAAGAAAAACACCAAACTCTCTAGCAAAACCACTGCTAAGTTATCC
ACTAGTGCTAAAAGAATTCAGAAGGAGCTAGCTGAAATAACCCTTGATCCTCCTCCTAAT
TGCAGTGCTGGGCCTAAAGGAGATAACATTTATGAATGGAGATCAACTATACTTGGTCCA
CCGGGTTCTGTATATGAAGGTGGTGTGTTTTTTCTGGATATCACATTTTCATCAGATTAT
CCATTTAAGCCACCAAAGGTTACTTTCCGCACCAGAATCTATCACTGCAACATCAACAGT
CAGGGAGTCATCTGTCTGGACATCCTTAAAGACAACTGGAGTCCCGCTTTGACTATTTCA
AAGGTTTTGCTGTCTATTTGTTCCCTTTTGACAGACTGCAACCCTGCGGATCCTCTGGTT
GGAAGCATAGCCACTCAGTATTTGACCAACAGAGCAGAACACGACAGGATAGCCAGACAG
TGGACCAAGAGATACGCAACATAA
|
| Enzyme 1 GenBank Gene ID |
AB017644  |
| Enzyme 1 GeneCard ID |
UBE2E3  |
| Enzyme 1 GenAtlas ID |
UBE2E3  |
| Enzyme 1 HGNC ID |
HGNC:12479  |
| Enzyme 1 Chromosome Location |
Not Available |
| Enzyme 1 Locus |
Not Available |
| Enzyme 1 SNPs |
SNPJam Report  |
| Enzyme 1 General References |
- Ito K, Kato S, Matsuda Y, Kimura M, Okano Y: cDNA cloning, characterization, and chromosome mapping of UBE2E3 (alias UbcH9), encoding an N-terminally extended human ubiquitin-conjugating enzyme. Cytogenet Cell Genet. 1999;84(1-2):99-104. [PubMed
]
|
| Enzyme 1 Metabolite References |
Not Available |
|
Enzyme 2
[top]
|
| Enzyme 2 ID |
5991 |
| Enzyme 2 Name |
Corticosteroid 11-beta-dehydrogenase isozyme 2 |
| Enzyme 2 Synonyms |
- 11-DH2
- 11-beta-hydroxysteroid dehydrogenase type 2
- 11-beta-HSD2
- NAD- dependent 11-beta-hydroxysteroid dehydrogenase
|
| Enzyme 2 Gene Name |
HSD11B2 |
| Enzyme 2 Protein Sequence |
>Corticosteroid 11-beta-dehydrogenase isozyme 2
MERWPWPSGGAWLLVAARALLQLLRSDLRLGRPLLAALALLAALDWLCQRLLPPPAALAV
LAAAGWIALSRLARPQRLPVATRAVLITGCDSGFGKETAKKLDSMGFTVLATVLELNSPG
AIELRTCCSPRLRLLQMDLTKPGDISRVLEFTKAHTTSTGLWGLVNNAGHNEVVADAELS
PVATFRSCMEVNFFGALELTKGLLPLLRSSRGRIVTVGSPAGDMPYPCLGAYGTSKAAVA
LLMDTFSCELLPWGVKVSIIQPGCFKTESVRNVGQWEKRKQLLLANLPQELLQAYGKDYI
EHLHGQFLHSLRLAMSDLTPVVDAITDALLAARPRRRYYPGQGLGLMYFIHYYLPEGLRR
RFLQAFFISHCLPRALQPGQPGTTPPQDAAQDPNLSPGPSPAVAR
|
| Enzyme 2 Number of Residues |
405 |
| Enzyme 2 Molecular Weight |
44127 |
| Enzyme 2 Theoretical pI |
9.58 |
| Enzyme 2 GO Classification |
| Function |
- catalytic activity
- oxidoreductase activity
|
| Process |
- metabolism
- physiological process
|
| Component |
| — |
|
| Enzyme 2 General Function |
Lipid transport and metabolism |
| Enzyme 2 Specific Function |
Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids |
| Enzyme 2 Pathways |
Not Available |
| Enzyme 2 Reactions |
Not Available |
| Enzyme 2 Pfam Domain Function |
|
| Enzyme 2 Signals |
|
| Enzyme 2 Transmembrane Regions |
Not Available |
| Enzyme 2 Essentiality |
Not Available |
| Enzyme 2 GenBank ID Protein |
565082  |
| Enzyme 2 UniProtKB/Swiss-Prot ID |
P80365  |
| Enzyme 2 UniProtKB/Swiss-Prot Entry Name |
DHI2_HUMAN  |
| Enzyme 2 PDB ID |
Not Available |
| Enzyme 2 Cellular Location |
Not Available |
| Enzyme 2 Gene Sequence |
>1218 bp
ATGGAGCGCTGGCCTTGGCCGTCGGGCGGCGCCTGGCTGCTCGTGGCTGCCCGCGCGCTG
CTGCAGCTGCTGCGCTCAGACCTGCGTCTGGGCCGCCCGCTGCTGGCGGCGCTGGCGCTG
CTGGCCGCGCTCGACTGGCTGTGCCAGCGCCTGCTGCCCCCGCCGGCCGCACTCGCCGTG
CTGGCCGCCGCCGGCTGGATCGCGTTGTCCCGCCTGGCGCGCCCGCAGCGCCTGCCGGTG
GCCACTCGCGCGGTGCTCATCACCGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAG
AAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGT
GCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACC
AAACCAGGAGACATTAGCCGCTTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGC
CTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCT
CCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACC
AAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCA
GCGGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCG
CTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATC
CAGCCTGGCTGCTTCAAGACAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAG
CAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATC
GAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCA
GTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCC
GGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGC
CGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAG
CCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCC
CCAGCAGTGGCTCGGTGA
|
| Enzyme 2 GenBank Gene ID |
U14631  |
| Enzyme 2 GeneCard ID |
HSD11B2  |
| Enzyme 2 GenAtlas ID |
HSD11B2  |
| Enzyme 2 HGNC ID |
HGNC:5209  |
| Enzyme 2 Chromosome Location |
16 |
| Enzyme 2 Locus |
16q22 |
| Enzyme 2 SNPs |
SNPJam Report  |
| Enzyme 2 General References |
- Albiston AL, Obeyesekere VR, Smith RE, Krozowski ZS: Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type 2 enzyme. Mol Cell Endocrinol. 1994 Nov;105(2):R11-7. [PubMed
]
- Agarwal AK, Rogerson FM, Mune T, White PC: Gene structure and chromosomal localization of the human HSD11K gene encoding the kidney (type 2) isozyme of 11 beta-hydroxysteroid dehydrogenase. Genomics. 1995 Sep 1;29(1):195-9. [PubMed
]
- Brown RW, Chapman KE, Kotelevtsev Y, Yau JL, Lindsay RS, Brett L, Leckie C, Murad P, Lyons V, Mullins JJ, Edwards CR, Seckl JR: Cloning and production of antisera to human placental 11 beta-hydroxysteroid dehydrogenase type 2. Biochem J. 1996 Feb 1;313 ( Pt 3):1007-17. [PubMed
]
- Odermatt A, Arnold P, Frey FJ: The intracellular localization of the mineralocorticoid receptor is regulated by 11beta-hydroxysteroid dehydrogenase type 2. J Biol Chem. 2001 Jul 27;276(30):28484-92. Epub 2001 May 11. [PubMed
]
- Stewart PM, Wallace AM, Valentino R, Burt D, Shackleton CH, Edwards CR: Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid dehydrogenase deficiency comes of age. Lancet. 1987 Oct 10;2(8563):821-4. [PubMed
]
- Wilson RC, Krozowski ZS, Li K, Obeyesekere VR, Razzaghy-Azar M, Harbison MD, Wei JQ, Shackleton CH, Funder JW, New MI: A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1995 Jul;80(7):2263-6. [PubMed
]
- Wilson RC, Harbison MD, Krozowski ZS, Funder JW, Shackleton CH, Hanauske-Abel HM, Wei JQ, Hertecant J, Moran A, Neiberger RE, et al.: Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1995 Nov;80(11):3145-50. [PubMed
]
- Mune T, Rogerson FM, Nikkila H, Agarwal AK, White PC: Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase. Nat Genet. 1995 Aug;10(4):394-9. [PubMed
]
- Kitanaka S, Katsumata N, Tanae A, Hibi I, Takeyama K, Fuse H, Kato S, Tanaka T: A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1997 Dec;82(12):4054-8. [PubMed
]
- Li A, Tedde R, Krozowski ZS, Pala A, Li KX, Shackleton CH, Mantero F, Palermo M, Stewart PM: Molecular basis for hypertension in the "type II variant" of apparent mineralocorticoid excess. Am J Hum Genet. 1998 Aug;63(2):370-9. [PubMed
]
- Dave-Sharma S, Wilson RC, Harbison MD, Newfield R, Azar MR, Krozowski ZS, Funder JW, Shackleton CH, Bradlow HL, Wei JQ, Hertecant J, Moran A, Neiberger RE, Balfe JW, Fattah A, Daneman D, Akkurt HI, De Santis C, New MI: Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1998 Jul;83(7):2244-54. [PubMed
]
- Rogoff D, Smolenicka Z, Bergada I, Vallejo G, Barontini M, Heinrich JJ, Ferrari P: The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1998 Dec;83(12):4391-3. [PubMed
]
- Wilson RC, Dave-Sharma S, Wei JQ, Obeyesekere VR, Li K, Ferrari P, Krozowski ZS, Shackleton CH, Bradlow L, Wiens T, New MI: A genetic defect resulting in mild low-renin hypertension. Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):10200-5. [PubMed
]
- Morineau G, Marc JM, Boudi A, Galons H, Gourmelen M, Corvol P, Pascoe L, Fiet J: Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess. Hypertension. 1999 Sep;34(3):435-41. [PubMed
]
- Nunez BS, Rogerson FM, Mune T, Igarashi Y, Nakagawa Y, Phillipov G, Moudgil A, Travis LB, Palermo M, Shackleton C, White PC: Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. Hypertension. 1999 Oct;34(4 Pt 1):638-42. [PubMed
]
- Odermatt A, Dick B, Arnold P, Zaehner T, Plueschke V, Deregibus MN, Repetto H, Frey BM, Frey FJ, Ferrari P: A mutation in the cofactor-binding domain of 11beta-hydroxysteroid dehydrogenase type 2 associated with mineralocorticoid hypertension. J Clin Endocrinol Metab. 2001 Mar;86(3):1247-52. [PubMed
]
|
| Enzyme 2 Metabolite References |
Not Available |
|
Enzyme 3
[top]
|
| Enzyme 3 ID |
6420 |
| Enzyme 3 Name |
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 |
| Enzyme 3 Synonyms |
- Brain cyclic nucleotide-gated channel 1
- BCNG-1
|
| Enzyme 3 Gene Name |
HCN1 |
| Enzyme 3 Protein Sequence |
>Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFK
VDGGGGGGGGGGGGEEPAGGFEDAEGPRRQYGFMQRQFTSMLQPGVNKFSLRMFGSQKAV
EKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVIIPVGITFFTEQTTTPWIIFNV
ASDTVFLLDLIMNFRTGTVNEDSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVE
KGMDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIFN
LIGMMLLLCHWDGCLQFLVPLLQDFPPDCWVSLNEMVNDSWGKQYSYALFKAMSHMLCIG
YGAQAPVSMSDLWITMLSMIVGATCYAMFVGHATALIQSLDSSRRQYQEKYKQVEQYMSF
HKLPADMRQKIHDYYEHRYQGKIFDEENILNELNDPLREEIVNFNCRKLVATMPLFANAD
PNFVTAMLSKLRFEVFQPGDYIIREGAVGKKMYFIQHGVAGVITKSSKEMKLTDGSYFGE
ICLLTKGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVAIDRLDRIGKKNSI
LLQKFQKDLNTGVFNNQENEILKQIVKHDREMVQAIAPINYPQMTTLNSTSSTTTPTSRM
RTQSPPVYTATSLSHSNLHSPSPSTQTPQPSAILSPCSYTTAVCSPPVQSPLAARTFHYA
SPTASQLSLMQQQPQQQVQQSQPPQTQPQQPSPQPQTPGSSTPKNEVHKSTQALHNTNLT
REVRPFSAWQPSLPHEVSTLISRPHPTVGESLASIPQPVTAVPGTGLQAGGRSTVPQRVT
LFRQMSSGAIPPNRGVPPAPPPPAAALPRESSSVLNTDPDAEKPRFASNL
|
| Enzyme 3 Number of Residues |
890 |
| Enzyme 3 Molecular Weight |
98930 |
| Enzyme 3 Theoretical pI |
8.54 |
| Enzyme 3 GO Classification |
| Function |
- ion channel activity
- ion transporter activity
- transporter activity
- voltage-gated ion channel activity
- voltage-gated potassium channel activity
|
| Process |
- cation transport
- cellular physiological process
- ion transport
- monovalent inorganic cation transport
- physiological process
- potassium ion transport
- transport
|
| Component |
|
|
| Enzyme 3 General Function |
Signal transduction mechanisms |
| Enzyme 3 Specific Function |
Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Activated by cAMP, and at 10-100 times higher concentrations, also by cGMP. May mediate responses to sour stimuli |
| Enzyme 3 Pathways |
Not Available |
| Enzyme 3 Reactions |
Not Available |
| Enzyme 3 Pfam Domain Function |
|
| Enzyme 3 Signals |
|
| Enzyme 3 Transmembrane Regions |
- 147-167
174-194
220-240
249-269
301-321
345-366
372-392
|
| Enzyme 3 Essentiality |
Not Available |
| Enzyme 3 GenBank ID Protein |
Not Available |
| Enzyme 3 UniProtKB/Swiss-Prot ID |
O60741  |
| Enzyme 3 UniProtKB/Swiss-Prot Entry Name |
HCN1_HUMAN  |
| Enzyme 3 PDB ID |
Not Available |
| Enzyme 3 Cellular Location |
Not Available |
| Enzyme 3 Gene Sequence |
Not Available |
| Enzyme 3 GenBank Gene ID |
AC114975  |
| Enzyme 3 GeneCard ID |
HCN1  |
| Enzyme 3 GenAtlas ID |
HCN1  |
| Enzyme 3 HGNC ID |
HGNC:4845  |
| Enzyme 3 Chromosome Location |
5 |
| Enzyme 3 Locus |
5p12 |
| Enzyme 3 SNPs |
SNPJam Report  |
| Enzyme 3 General References |
- Santoro B, Liu DT, Yao H, Bartsch D, Kandel ER, Siegelbaum SA, Tibbs GR: Identification of a gene encoding a hyperpolarization-activated pacemaker channel of brain. Cell. 1998 May 29;93(5):717-29. [PubMed
]
|
| Enzyme 3 Metabolite References |
Not Available |
|
Enzyme 4
[top]
|
| Enzyme 4 ID |
6495 |
| Enzyme 4 Name |
Sodium/potassium-transporting ATPase subunit beta-3 |
| Enzyme 4 Synonyms |
- Sodium/potassium- dependent ATPase beta-3 subunit
- ATPB-3
- CD298 antigen
|
| Enzyme 4 Gene Name |
ATP1B3 |
| Enzyme 4 Protein Sequence |
>Sodium/potassium-transporting ATPase subunit beta-3
MTKNEKKSLNQSLAEWKLFIYNPTTGEFLGRTAKSWGLILLFYLVFYGFLAALFSFTMWV
MLQTLNDEVPKYRDQIPSPGLMVFPKPVTALEYTFSRSDPTSYAGYIEDLKKFLKPYTLE
EQKNLTVCPDGALFEQKGPVYVACQFPISLLQACSGMNDPDFGYSQGNPCILVKMNRIIG
LKPEGVPRIDCVSKNEDIPNVAVYPHNGMIDLKYFPYYGKKLHVGYLQPLVAVQVSFAPN
NTGKEVTVECKIDGSANLKSQDDRDKFLGRVMFKITARA
|
| Enzyme 4 Number of Residues |
279 |
| Enzyme 4 Molecular Weight |
31513 |
| Enzyme 4 Theoretical pI |
8.52 |
| Enzyme 4 GO Classification |
| Function |
- ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
- cation transporter activity
- ion transporter activity
- sodium:potassium-exchanging ATPase activity
- transporter activity
|
| Process |
- cation transport
- cellular physiological process
- ion transport
- monovalent inorganic cation transport
- physiological process
- potassium ion transport
- sodium ion transport
- transport
|
| Component |
|
|
| Enzyme 4 General Function |
Not Available |
| Enzyme 4 Specific Function |
This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-3 subunit is not known |
| Enzyme 4 Pathways |
Not Available |
| Enzyme 4 Reactions |
Not Available |
| Enzyme 4 Pfam Domain Function |
|
| Enzyme 4 Signals |
|
| Enzyme 4 Transmembrane Regions |
|
| Enzyme 4 Essentiality |
Not Available |
| Enzyme 4 GenBank ID Protein |
1256802  |
| Enzyme 4 UniProtKB/Swiss-Prot ID |
P54709  |
| Enzyme 4 UniProtKB/Swiss-Prot Entry Name |
AT1B3_HUMAN  |
| Enzyme 4 PDB ID |
Not Available |
| Enzyme 4 Cellular Location |
Not Available |
| Enzyme 4 Gene Sequence |
>840 bp
ATGACGAAGAACGAGAAGAAGTCCCTCAACCAGAGCCTGGCCGAGTGGAAGCTCTTCATC
TACAACCCGACCACCGGAGAATTCCTGGGGCGCACCGCCAAGAGCTGGGGTTTGATCTTG
CTCTTCTACCTAGTTTTTTATGGGTTCCTGGCTGCACTCTTCTCATTCACGATGTGGGTT
ATGCTTCAGACTCTCAACGATGAGGTTCCAAAATACCGTGACCAGATTCCTAGCCCAGGA
CTCATGGTTTTTCCAAAACCAGTGACCGCATTGGAATATACATTCAGTAGGTCTGATCCA
ACTTCGTATGCAGGGTACATTGAAGACCTTAAGAAGTTTCTAAAACCATATACTTTAGAA
GAACAGAAGAACCTCACAGTCTGTCCTGATGGAGCACTTTTTGAACAGAAGGGTCCAGTT
TATGTTGCATGTCAGTTTCCTATTTCATTACTTCAAGCATGCAGTGGTATGAATGATCCT
GATTTTGGCTATTCTCAAGGAAACCCTTGTATTCTTGTGAAAATGAACAGAATAATTGGA
TTAAAGCCTGAAGGAGTGCCAAGGATAGATTGTGTTTCAAAGAATGAAGATATACCAAAT
GTAGCAGTTTATCCTCATAATGGAATGATAGACTTAAAATATTTCCCATATTATGGGAAA
AAACTGCATGTTGGGTATCTACAGCCATTGGTTGCTGTTCAGGTCAGCTTTGCTCCTAAC
AACACTGGGAAAGAAGTAACAGTTGAGTGCAAGATTGATGGATCAGCCAACCTAAAAAGT
CAGGATGATCGTGACAAGTTTTTGGGACGAGTTATGTTCAAAATCACAGCACGTGCATAG
|
| Enzyme 4 GenBank Gene ID |
U51478  |
| Enzyme 4 GeneCard ID |
ATP1B3  |
| Enzyme 4 GenAtlas ID |
ATP1B3  |
| Enzyme 4 HGNC ID |
HGNC:806  |
| Enzyme 4 Chromosome Location |
3 |
| Enzyme 4 Locus |
3q23 |
| Enzyme 4 SNPs |
SNPJam Report  |
| Enzyme 4 General References |
- Malik N, Canfield VA, Beckers MC, Gros P, Levenson R: Identification of the mammalian Na,K-ATPase 3 subunit. J Biol Chem. 1996 Sep 13;271(37):22754-8. [PubMed
]
- Malik N, Canfield V, Sanchez-Watts G, Watts AG, Scherer S, Beatty BG, Gros P, Levenson R: Structural organization and chromosomal localization of the human Na,K-ATPase beta 3 subunit gene and pseudogene. Mamm Genome. 1998 Feb;9(2):136-43. [PubMed
]
- Zhang H, Li XJ, Martin DB, Aebersold R: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. Nat Biotechnol. 2003 Jun;21(6):660-6. Epub 2003 May 18. [PubMed
]
|
| Enzyme 4 Metabolite References |
Not Available |
|
Enzyme 5
[top]
|
| Enzyme 5 ID |
6520 |
| Enzyme 5 Name |
Sodium/potassium-transporting ATPase subunit beta-2 |
| Enzyme 5 Synonyms |
- Sodium/potassium- dependent ATPase beta-2 subunit
|
| Enzyme 5 Gene Name |
ATP1B2 |
| Enzyme 5 Protein Sequence |
>Sodium/potassium-transporting ATPase subunit beta-2
MVIQKEKKSCGQVVEEWKEFVWNPRTHQFMGRTGTSWAFILLFYLVFYGFLTAMFTLTMW
VMLQTVSDHTPKYQDRLATPGLMIRPKTENLDVIVNVSDTESWDQHVQKLNKFLEPYNDS
IQAQKNDVCRPGRYYEQPDNGVLNYPKRACQFNRTQLGNCSGIGDSTHYGYSTGQPCVFI
KMNRVINFYAGANQSMNVTCAGKRDEDAENLGNFVMFPANGNIDLMYFPYYGKKFHVNYT
QPLVAVKFLNVTPNVEVNVECRINAANIATDDERDKFAGRVAFKLRINKT
|
| Enzyme 5 Number of Residues |
290 |
| Enzyme 5 Molecular Weight |
33367 |
| Enzyme 5 Theoretical pI |
8.44 |
| Enzyme 5 GO Classification |
| Function |
- ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
- cation transporter activity
- ion transporter activity
- sodium:potassium-exchanging ATPase activity
- transporter activity
|
| Process |
- cation transport
- cellular physiological process
- ion transport
- monovalent inorganic cation transport
- physiological process
- potassium ion transport
- sodium ion transport
- transport
|
| Component |
|
|
| Enzyme 5 General Function |
Not Available |
| Enzyme 5 Specific Function |
This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known |
| Enzyme 5 Pathways |
Not Available |
| Enzyme 5 Reactions |
Not Available |
| Enzyme 5 Pfam Domain Function |
|
| Enzyme 5 Signals |
|
| Enzyme 5 Transmembrane Regions |
|
| Enzyme 5 Essentiality |
Not Available |
| Enzyme 5 GenBank ID Protein |
179245  |
| Enzyme 5 UniProtKB/Swiss-Prot ID |
P14415  |
| Enzyme 5 UniProtKB/Swiss-Prot Entry Name |
AT1B2_HUMAN  |
| Enzyme 5 PDB ID |
Not Available |
| Enzyme 5 Cellular Location |
Not Available |
| Enzyme 5 Gene Sequence |
>873 bp
ATGGTCATCCAGAAAGAGAAGAAGAGCTGCGGGCAGGTGGTTGAGGAGTGGAAGGAGTTC
GTGTGGAACCCGAGGACGCACCAGTTTATGGGCCGCACCGGGACCAGCTGGGCCTTTATC
CTCCTCTTCTACCTCGTTTTTTATGGGTTCCCCACCGCCATGTTCACCCTCACCATGTGG
GTGATGCTGCAGACTGTCTCCGACCATACCCCCAAGTACCAGGACCGACTGGCCACACCG
GGCTTGATGATTCGCCCCAAGACTGAGAACCTTGATGTCATTGTCAATGTCAGTGACACT
GAAAGCTGGGACCAGCATGTTCAGAAGCTCAACAAGTTCTTGGAGCCTTACAACGACTCT
ATGCAAGCCCAAAAGAATGATGTCTGCCGCCCTGGGCGCTATTACGAACAGCCAGATAAT
GGAGTCCTCAACTACCCCAAACTGGCCTGCCAATTCAACCGGACCCAGCTGGGCAACTGC
TCCGGCATTGGGGACTCCACCCACTATGGTTACAGCACTGGGCAGCCCTGTGTCTTCATC
AAGATGAACCGGGTCATCAACTTCTATGCAGGAGCAAACCAGAGCATGAATGTTACCTGT
GCTGGGAAGCGAGATGAAGATGCTGAGAATCTCGGCAACTTCGTCATGTTCCCCGCCAAC
GGCAACATCGACCTCATGTACTTCCCCTACTATGGCAAAAAGTTCCACGTGAACTACACA
CAGCCCCTGGTGGCTGTGAAGTTCCTGAATGTGACCCCCAACGTGGAGGTGAATGTAGAA
TGTCGCATCAACGCCGCCAACATCGCCACAGACGATGAGCGAGACAAGTTCGCCGGCCGC
GTGGCCTTCAAACTCCGCATCAACAAAACCTGA
|
| Enzyme 5 GenBank Gene ID |
M81181  |
| Enzyme 5 GeneCard ID |
ATP1B2  |
| Enzyme 5 GenAtlas ID |
ATP1B2  |
| Enzyme 5 HGNC ID |
HGNC:805  |
| Enzyme 5 Chromosome Location |
17 |
| Enzyme 5 Locus |
17p13.1 |
| Enzyme 5 SNPs |
SNPJam Report  |
| Enzyme 5 General References |
- Martin-Vasallo P, Dackowski W, Emanuel JR, Levenson R: Identification of a putative isoform of the Na,K-ATPase beta subunit. Primary structure and tissue-specific expression. J Biol Chem. 1989 Mar 15;264(8):4613-8. [PubMed
]
- Hernando N, Martin-Vasallo P, Ghosh S, Ghosh PK, Swaroop A, Coca-Prados M: Nucleotide sequence of a cDNA for the beta 2 subunit isoform of Na+,K(+)-ATPase from human retina. Biochim Biophys Acta. 1994 Jan 3;1189(1):109-11. [PubMed
]
- Ruiz A, Bhat SP, Bok D: Expression and synthesis of the Na,K-ATPase beta 2 subunit in human retinal pigment epithelium. Gene. 1996 Oct 17;176(1-2):237-42. [PubMed
]
- Avila J, Alvarez de la Rosa D, Gonzalez-Martinez LM, Lecuona E, Martin-Vasallo P: Structure and expression of the human Na,K-ATPase beta 2-subunit gene. Gene. 1998 Feb 27;208(2):221-7. [PubMed
]
|
| Enzyme 5 Metabolite References |
Not Available |
|
Enzyme 6
[top]
|
| Enzyme 6 ID |
6524 |
| Enzyme 6 Name |
Sodium/potassium-transporting ATPase subunit beta-1 |
| Enzyme 6 Synonyms |
- Sodium/potassium- dependent ATPase beta-1 subunit
|
| Enzyme 6 Gene Name |
ATP1B1 |
| Enzyme 6 Protein Sequence |
>Sodium/potassium-transporting ATPase subunit beta-1
MARGKAKEEGSWKKFIWNSEKKEFLGRTGGSWFKILLFYVIFYGCLAGIFIGTIQVMLLT
ISEFKPTYQDRVAPPGLTQIPQIQKTEISFRPNDPKSYEAYVLNIVRFLEKYKDSAQRDD
MIFEDCGDVPSEPKERGDFNHERGERKVCRFKLEWLGNCSGLNDETYGYKEGKPCIIIKL
NRVLGFKPKPPKNESLETYPVMKYNPNVLPVQCTGKRDEDKDKVGNVEYFGLGNSPGFPL
QYYPYYGKLLQPKYLQPLLAVQFTNLTMDTEIRIECKAYGENIGYSEKDRFQGRFDVKIE
VKS
|
| Enzyme 6 Number of Residues |
303 |
| Enzyme 6 Molecular Weight |
35062 |
| Enzyme 6 Theoretical pI |
8.73 |
| Enzyme 6 GO Classification |
| Function |
- ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
- cation transporter activity
- ion transporter activity
- sodium:potassium-exchanging ATPase activity
- transporter activity
|
| Process |
- cation transport
- cellular physiological process
- ion transport
- monovalent inorganic cation transport
- physiological process
- potassium ion transport
- sodium ion transport
- transport
|
| Component |
|
|
| Enzyme 6 General Function |
Not Available |
| Enzyme 6 Specific Function |
This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane |
| Enzyme 6 Pathways |
Not Available |
| Enzyme 6 Reactions |
Not Available |
| Enzyme 6 Pfam Domain Function |
|
| Enzyme 6 Signals |
|
| Enzyme 6 Transmembrane Regions |
|
| Enzyme 6 Essentiality |
Not Available |
| Enzyme 6 GenBank ID Protein |
28933  |
| Enzyme 6 UniProtKB/Swiss-Prot ID |
P05026  |
| Enzyme 6 UniProtKB/Swiss-Prot Entry Name |
AT1B1_HUMAN  |
| Enzyme 6 PDB ID |
Not Available |
| Enzyme 6 Cellular Location |
Not Available |
| Enzyme 6 Gene Sequence |
>912 bp
ATGGCCCGCGGGAAAGCCAAGGAGGAGGGCAGCTGGAAGAAATTCATCTGGAACTCAGAG
AAGAAGGAGTTTCTGGGCAGGACCGGTGGCAGTTGGTTTAAGATCCTTCTATTCTACGTA
ATATTTTATGGCTGCCTGGCTGGCATCTTCATCGGAACCATCCAAGTGATGCTGCTCACC
ATCAGTGAATTTAAGCCCACATATCAGGACCGAGTGGCCCCGCCAGGATTAACACAGATT
CCTCAGATCCAGAAGACTGAAATTTCCTTTCGTCCTAATGATCCCAAGAGCTATGAGGCA
TATGTACTGAACATAGTTAGGTTCCTGGAAAAGTACAAAGATTCAGCCCAGAGGGATGAC
ATGATTTTTGAAGATTGTGGCGATGTGCCCAGTGAACCGAAAGAACGAGGAGACTTTAAT
CATGAACGAGGAGAGCGAAAGGTCTGCAGATTCAAGCTTGAATGGCTGGGAAATTGCTCT
GGATTAAATGATGAAACTTATGGCTACAAAGAGGGCAAACCGTGCATTATTATAAAGCTC
AACCGAGTTCTAGGCTTCAAACCTAAGCCTCCCAAGAATGAGTCCTTGGAGACTTACCCA
GTGATGAAGTATAACCCAAATGTCCTTCCCGTTCAGTGCACTGGCAAGCGAGATGAAGAT
AAGGATAAAGTTGGAAATGTGGAGTATTTTGGACTGGGCAACTCCCCTGGTTTTCCTCTG
CAGTATTATCCGTACTATGGCAAACTCCTGCAGCCCAAATACCTGCAGCCCCTGCTGGCC
GTACAGTTCACCAATCTTACCATGGACACTGAAATTCGCATAGAGTGTAAGGCGTACGGT
GAGAACATTGGGTACAGTGAGAAAGACCGTTTTCAGGGACGTTTTGATGTAAAAATTGAA
GTTAAGAGCTGA
|
| Enzyme 6 GenBank Gene ID |
X03747  |
| Enzyme 6 GeneCard ID |
ATP1B1  |
| Enzyme 6 GenAtlas ID |
ATP1B1  |
| Enzyme 6 HGNC ID |
HGNC:804  |
| Enzyme 6 Chromosome Location |
1 |
| Enzyme 6 Locus |
1q24 |
| Enzyme 6 SNPs |
SNPJam Report  |
| Enzyme 6 General References |
- Kawakami K, Nojima H, Ohta T, Nagano K: Molecular cloning and sequence analysis of human Na,K-ATPase beta-subunit. Nucleic Acids Res. 1986 Apr 11;14(7):2833-44. [PubMed
]
- Lane LK, Shull MM, Whitmer KR, Lingrel JB: Characterization of two genes for the human Na,K-ATPase beta subunit. Genomics. 1989 Oct;5(3):445-53. [PubMed
]
- Ruiz A, Bhat SP, Bok D: Characterization and quantification of full-length and truncated Na,K-ATPase alpha 1 and beta 1 RNA transcripts expressed in human retinal pigment epithelium. Gene. 1995 Apr 3;155(2):179-84. [PubMed
]
- Ushkaryov YuA, Monastyrskaya GS, Broude NE, Nikiforova NN, Bessarab DA, Orlova MYu, Petrukhin KE, Modyanov NN, Sverdlov ED: Human Na+,K+-ATPase genes. Beta-subunit gene family contains at least one gene and one pseudogene. FEBS Lett. 1989 Nov 6;257(2):439-42. [PubMed
]
- Zhang H, Li XJ, Martin DB, Aebersold R: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. Nat Biotechnol. 2003 Jun;21(6):660-6. Epub 2003 May 18. [PubMed
]
|
| Enzyme 6 Metabolite References |
Not Available |
|
Enzyme 7
[top]
|
| Enzyme 7 ID |
6554 |
| Enzyme 7 Name |
Serine/threonine-protein kinase Sgk1 |
| Enzyme 7 Synonyms |
- Serum/glucocorticoid-regulated kinase 1
|
| Enzyme 7 Gene Name |
SGK |
| Enzyme 7 Protein Sequence |
>Serine/threonine-protein kinase Sgk1
MTVKTEAAKGTLTYSRMRGMVAILIAFMKQRRMGLNDFIQKIANNSYACKHPEVQSILKI
SQPQEPELMNANPSPPPSPSQQINLGPSSNPHAKPSDFHFLKVIGKGSFGKVLLARHKAE
EVFYAVKVLQKKAILKKKEEKHIMSERNVLLKNVKHPFLVGLHFSFQTADKLYFVLDYIN
GGELFYHLQRERCFLEPRARFYAAEIASALGYLHSLNIVYRDLKPENILLDSQGHIVLTD
FGLCKENIEHNSTTSTFCGTPEYLAPEVLHKQPYDRTVDWWCLGAVLYEMLYGLPPFYSR
NTAEMYDNILNKPLQLKPNITNSARHLLEGLLQKDRTKRLGAKDDFMEIKSHVFFSLINW
DDLINKKITPPFNPNVSGPNDLRHFDPEFTEEPVPNSIGKSPDSVLVTASVKEAAEAFLG
FSYAPPTDSFL
|
| Enzyme 7 Number of Residues |
431 |
| Enzyme 7 Molecular Weight |
48943 |
| Enzyme 7 Theoretical pI |
8.81 |
| Enzyme 7 GO Classification |
| Function |
- ATP binding
- adenyl nucleotide binding
- binding
- catalytic activity
- kinase activity
- nucleotide binding
- protein kinase activity
- protein serine/threonine kinase activity
- purine nucleotide binding
- transferase activity
- transferase activity, transferring phosphorus-containing groups
|
| Process |
- biopolymer metabolism
- biopolymer modification
- macromolecule metabolism
- metabolism
- physiological process
- protein amino acid phosphorylation
- protein modification
|
| Component |
| — |
|
| Enzyme 7 General Function |
Not Available |
| Enzyme 7 Specific Function |
Protein kinase that plays an important role in cellular stress response. Activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. Sustained high levels and activity may contribute to conditions such as hypertension and diabetic nephropathy. Mediates cell survival signals, phosphorylates and negatively regulates pro-apoptotic FOXO3A. Phosphorylates NEDD4L, which leads to its inactivation and to the subsequent activation of various channels and transporters such as ENaC, Kv1.3, or EAAT1 |
| Enzyme 7 Pathways |
Not Available |
| Enzyme 7 Reactions |
Not Available |
| Enzyme 7 Pfam Domain Function |
|
| Enzyme 7 Signals |
|
| Enzyme 7 Transmembrane Regions |
|
| Enzyme 7 Essentiality |
Not Available |
| Enzyme 7 GenBank ID Protein |
1834511  |
| Enzyme 7 UniProtKB/Swiss-Prot ID |
O00141  |
| Enzyme 7 UniProtKB/Swiss-Prot Entry Name |
SGK1_HUMAN  |
| Enzyme 7 PDB ID |
Not Available |
| Enzyme 7 Cellular Location |
Not Available |
| Enzyme 7 Gene Sequence |
>1296 bp
ATGACGGTGAAAACTGAGGCTGCTAAGGGCACCCTCACTTACTCCAGGATGAGGGGCATG
GTGGCAATTCTCATCGCTTTCATGAAGCAGAGGAGGATGGGTCTGAACGACTTTATTCAG
AAGATTGCCAATAACTCCTATGCATGCAAACACCCTGAAGTTCAGTCCATCTTGAAGATC
TCCCAACCTCAGGAGCCTGAGCTTATGAATGCCAACCCTTCTCCTCCACCAAGTCCTTCT
CAGCAAATCAACCTTGGCCCGTCGTCCAATCCTCATGCTAAACCATCTGACTTTCACTTC
TTGAAAGTGATCGGAAAGGGCAGTTTTGGAAAGGTTCTTCTAGCAAGACACAAGGCAGAA
GAAGTGTTCTATGCAGTCAAAGTTTTACAGAAGAAAGCAATCCTGAAAAAGAAAGAGGAG
AAGCATATTATGTCGGAGCGGAATGTTCTGTTGAAGAATGTGAAGCACCCTTTCCTGGTG
GGCCTTCACTTCTCTTTCCAGACTGCTGACAAATTGTACTTTGTCCTAGACTACATTAAT
GGTGGAGAGTTGTTCTACCATCTCCAGAGGGAACGCTGCTTCCTGGAACCACGGGCTCGT
TTCTATGCTGCTGAAATAGCCAGTGCCTTGGGCTACCTGCATTCACTGAACATCGTTTAT
AGAGACTTAAAACCAGAGAATATTTTGCTAGATTCACAGGGACACATTGTCCTTACTGAT
TTCGGACTCTGCAAGGAGAACATTGAACACAACAGCACAACATCCACCTTCTGTGGCACG
CCGGAGTATCTCGCACCTGAGGTGCTTCATAAGCAGCCTTATGACAGGACTGTGGACTGG
TGGTGCCTGGGAGCTGTCTTGTATGAGATGCTGTATGGCCTGCCGCCTTTTTATAGCCGA
AACACAGCTGAAATGTACGACAACATTCTGAACAAGCCTCTCCAGCTGAAACCAAATATT
ACAAATTCCGCAAGACACCTCCTGGAGGGCCTCCTGCAGAAGGACAGGACAAAGCGGCTC
GGGGCCAAGGATGACTTCATGGAGATTAAGAGTCATGTCTTCTTCTCCTTAATTAACTGG
GATGATCTCATTAATAAGAAGATTACTCCCCCTTTTAACCCAAATGTGAGTGGGCCCAAC
GAGCTACGGCACTTTGACCCCGAGTTTACCGAAGAGCCTGTCCCCAACTCCATTGGCAAG
TCCCCTGACAGCGTCCTCGTCACAGCCAGCGTCAAGGAAGCTGCCGAGGCTTTCCTAGGC
TTTTCCTATGCGCCTCCCACGGACTCTTTCCTCTGA
|
| Enzyme 7 GenBank Gene ID |
Y10032  |
| Enzyme 7 GeneCard ID |
SGK  |
| Enzyme 7 GenAtlas ID |
SGK  |
| Enzyme 7 HGNC ID |
HGNC:10810  |
| Enzyme 7 Chromosome Location |
6 |
| Enzyme 7 Locus |
6q23 |
| Enzyme 7 SNPs |
SNPJam Report  |
| Enzyme 7 General References |
- Waldegger S, Barth P, Raber G, Lang F: Cloning and characterization of a putative human serine/threonine protein kinase transcriptionally modified during anisotonic and isotonic alterations of cell volume. Proc Natl Acad Sci U S A. 1997 Apr 29;94(9):4440-5. [PubMed
]
- Waldegger S, Erdel M, Nagl UO, Barth P, Raber G, Steuer S, Utermann G, Paulmichl M, Lang F: Genomic organization and chromosomal localization of the human SGK protein kinase gene. Genomics. 1998 Jul 15;51(2):299-302. [PubMed
]
- Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed
]
- Kobayashi T, Deak M, Morrice N, Cohen P: Characterization of the structure and regulation of two novel isoforms of serum- and glucocorticoid-induced protein kinase. Biochem J. 1999 Nov 15;344 Pt 1:189-97. [PubMed
]
- Kobayashi T, Cohen P: Activation of serum- and glucocorticoid-regulated protein kinase by agonists that activate phosphatidylinositide 3-kinase is mediated by 3-phosphoinositide-dependent protein kinase-1 (PDK1) and PDK2. Biochem J. 1999 Apr 15;339 ( Pt 2):319-28. [PubMed
]
- Lang F, Klingel K, Wagner CA, Stegen C, Warntges S, Friedrich B, Lanzendorfer M, Melzig J, Moschen I, Steuer S, Waldegger S, Sauter M, Paulmichl M, Gerke V, Risler T, Gamba G, Capasso G, Kandolf R, Hebert SC, Massry SG, Broer S: Deranged transcriptional regulation of cell-volume-sensitive kinase hSGK in diabetic nephropathy. Proc Natl Acad Sci U S A. 2000 Jul 5;97(14):8157-62. [PubMed
]
- Brunet A, Park J, Tran H, Hu LS, Hemmings BA, Greenberg ME: Protein kinase SGK mediates survival signals by phosphorylating the forkhead transcription factor FKHRL1 (FOXO3a). Mol Cell Biol. 2001 Feb;21(3):952-65. [PubMed
]
- Gamper N, Fillon S, Feng Y, Friedrich B, Lang PA, Henke G, Huber SM, Kobayashi T, Cohen P, Lang F: K+ channel activation by all three isoforms of serum- and glucocorticoid-dependent protein kinase SGK. Pflugers Arch. 2002 Oct;445(1):60-6. Epub 2002 Aug 28. [PubMed
]
- Maiyar AC, Leong ML, Firestone GL: Importin-alpha mediates the regulated nuclear targeting of serum- and glucocorticoid-inducible protein kinase (Sgk) by recognition of a nuclear localization signal in the kinase central domain. Mol Biol Cell. 2003 Mar;14(3):1221-39. [PubMed
]
|
| Enzyme 7 Metabolite References |
Not Available |
|
Enzyme 8
[top]
|
| Enzyme 8 ID |
6606 |
| Enzyme 8 Name |
X/potassium-transporting ATPase subunit beta-m |
| Enzyme 8 Synonyms |
- X,K-ATPase beta-m subunit
|
| Enzyme 8 Gene Name |
ATP1B4 |
| Enzyme 8 Protein Sequence |
>X/potassium-transporting ATPase subunit beta-m
MRRQLRSRRAPSFPYSYRYRLDDPDEANQNYLADEEEEAEEEARVTVVPKSEEEEEEEEK
EEEEEEEKEEEEGQGQPTGNAWWQKLQIMSEYLWDPERRMFLARTGQSWSLILLIYFFFY
ASLAAVITLCMYTLFLTISPYIPTFTERVKPPGVMIRPFAHSLNFNFNVSEPDTWQHYVI
SLNGFLQGYNDSLQEEMNVDCPPGQYFIQDGNEDEDKKACQFKRSFLKNCSGLEDPTFGY
STGQPCILLKMNRIVGFRPELGDPVKVSCKVQRGDENDIRSISYYPESASFDLRYYPYYG
KLTHVNYTSPLVAMHFTDVVKNQAVPVQCQLKGKGVINDVINDRFVGRVIFTLNIET
|
| Enzyme 8 Number of Residues |
357 |
| Enzyme 8 Molecular Weight |
41598 |
| Enzyme 8 Theoretical pI |
4.40 |
| Enzyme 8 GO Classification |
| Function |
- ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
- cation transporter activity
- ion transporter activity
- sodium:potassium-exchanging ATPase activity
- transporter activity
|
| Process |
- cation transport
- cellular physiological process
- ion transport
- monovalent inorganic cation transport
- physiological process
- potassium ion transport
- sodium ion transport
- transport
|
| Component |
|
|
| Enzyme 8 General Function |
Transcription |
| Enzyme 8 Specific Function |
This is the non-catalytic component of a yet unknown sodium or proton exchange ATPase |
| Enzyme 8 Pathways |
Not Available |
| Enzyme 8 Reactions |
Not Available |
| Enzyme 8 Pfam Domain Function |
|
| Enzyme 8 Signals |
|
| Enzyme 8 Transmembrane Regions |
|
| Enzyme 8 Essentiality |
Not Available |
| Enzyme 8 GenBank ID Protein |
5733590  |
| Enzyme 8 UniProtKB/Swiss-Prot ID |
Q9UN42  |
| Enzyme 8 UniProtKB/Swiss-Prot Entry Name |
AT1B4_HUMAN  |
| Enzyme 8 PDB ID |
Not Available |
| Enzyme 8 Cellular Location |
Not Available |
| Enzyme 8 Gene Sequence |
>1074 bp
ATGAGAAGGCAACTCCGGTCCAGAAGGGCTCCATCCTTTCCTTACAGTTATCGCTACAGA
CTCGATGATCCGGATGAAGCGAACCAGAACTACTTAGCAGATGAAGAGGAGGAAGCAGAA
GAAGAGGCTCGGGTGACGGTGGTGCCCAAATCGGAGGAGGAGGAAGAAGAGGAGGAGAAA
GAAGAGGAGGAAGAGGAGGAAAAGGAGGAGGAAGAGGGTCAAGGTCAGCCAACAGGCAAT
GCCTGGTGGCAGAAATTGCAGATCATGAGTGAATACCTGTGGGATCCAGAGAGAAGGATG
TTTCTGGCCCGAACAGGTCAGAGTTGGAGCCTGATCTTACTCATTTACTTCTTCTTCTAT
GCCTCCTTGGCTGCTGTGATCACCCTCTGCATGTACACACTATTTCTGACCATCAGTCCC
TATATACCAACCTTCACGGAGCGGGTAAAGCCTCCTGGAGTTATGATCAGACCCTTCGCC
CATAGCCTTAACTTCAACTTCAACGTTTCTGAACCCGACACTTGGCAGCATTATGTGATT
AGCCTAAATGGCTTTCTCCAGGGTTATAATGACAGTCTTCAAGAGGAAATGAATGTAGAT
TGTCCCCCGGGGCAGTACTTCATCCAAGATGGCAATGAGGATGAGGACAAGAAGGCCTGC
CAATTTAAGCGCTCCTTCCTAAAGAACTGCTCTGGTCTGGAGGACCCAACTTTTGGATAC
TCTACTGGACAGCCCTGCATCCTTCTAAAGATGAACCGGATTGTAGGCTTTCGTCCTGAG
CTTGGAGATCCTGTGAAGGTTTCCTGCAAAGTTCAGAGAGGTGATGAAAATGACATCCGA
TCCATCAGTTACTACCCAGAGTCGGCTTCTTTTGACCTCCGCTACTACCCTTACTACGGC
AAACTGACTCACGTTAACTACACATCCCCCTTGGTGGCAATGCACTTTACAGACGTGGTG
AAGAACCAAGCAGTGCCTGTGCAGTGCCAACTGAAGGGCAAAGGCGTCATAAATGATGTC
ATCAATGATCGTTTTGTGGGCAGGGTAATCTTTACCCTGAACATAGAAACTTAA
|
| Enzyme 8 GenBank Gene ID |
AF158383  |
| Enzyme 8 GeneCard ID |
ATP1B4  |
| Enzyme 8 GenAtlas ID |
ATP1B4  |
| Enzyme 8 HGNC ID |
HGNC:808  |
| Enzyme 8 Chromosome Location |
X |
| Enzyme 8 Locus |
Xq24 |
| Enzyme 8 SNPs |
SNPJam Report  |
| Enzyme 8 General References |
- Pestov NB, Adams G, Shakhparonov MI, Modyanov NN: Identification of a novel gene of the X,K-ATPase beta-subunit family that is predominantly expressed in skeletal and heart muscles. FEBS Lett. 1999 Aug 6;456(2):243-8. [PubMed
]
|
| Enzyme 8 Metabolite References |
Not Available |
|
Enzyme 9
[top]
|
| Enzyme 9 ID |
6683 |
| Enzyme 9 Name |
Sodium/potassium-transporting ATPase alpha-1 chain precursor |
| Enzyme 9 Synonyms |
- Sodium pump 1
- Na(+/K(+ATPase 1
|
| Enzyme 9 Gene Name |
ATP1A1 |
| Enzyme 9 Protein Sequence |
>Sodium/potassium-transporting ATPase alpha-1 chain precursor
MGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLS
RGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAA
TEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSI
NAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETR
NIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAAEIEHFIHIITGVAV
FLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKN
LEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWLA
LSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIELCCGSVKEMRERYAKIVEI
PFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDRCSSILLHGKEQPLDEELKDAFQN
AYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVP
DAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDA
KACVVHGSDLKDMTSEQLDDILKYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVN
DSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTL
TSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPK
TDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVED
SYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFE
ETALAAFLSYCPGMGVALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKE
TYY
|
| Enzyme 9 Number of Residues |
1023 |
| Enzyme 9 Molecular Weight |
112897 |
| Enzyme 9 Theoretical pI |
5.15 |
| Enzyme 9 GO Classification |
| Function |
- ATP binding
- ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
- adenyl nucleotide binding
- binding
- catalytic activity
- cation transporter activity
- hydrolase activity
- hydrolase activity, acting on acid anhydrides
- hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
- ion transporter activity
- monovalent inorganic cation transporter activity
- nucleotide binding
- purine nucleotide binding
- transporter activity
|
| Process |
- cation transport
- cellular physiological process
- ion transport
- metabolism
- monovalent inorganic cation transport
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 9 General Function |
Inorganic ion transport and metabolism |
| Enzyme 9 Specific Function |
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients |
| Enzyme 9 Pathways |
Not Available |
| Enzyme 9 Reactions |
- ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in)
|
| Enzyme 9 Pfam Domain Function |
|
| Enzyme 9 Signals |
|
| Enzyme 9 Transmembrane Regions |
- 88-108
132-152
289-308
321-338
773-792
803-823
844-866
919-938
952-970
986-1006
|
| Enzyme 9 Essentiality |
Not Available |
| Enzyme 9 GenBank ID Protein |
219942  |
| Enzyme 9 UniProtKB/Swiss-Prot ID |
P05023  |
| Enzyme 9 UniProtKB/Swiss-Prot Entry Name |
AT1A1_HUMAN  |
| Enzyme 9 PDB ID |
Not Available |
| Enzyme 9 Cellular Location |
Not Available |
| Enzyme 9 Gene Sequence |
>3072 bp
ATGGGGAAGGGGGTTGGACGTGATAAGTATGAGCCTGCAGCTGTTTCAGAACAAGGTGAT
AAAAAGGGCAAAAAGGGCAAAAAAGACAGGGACATGGATGAACTGAAGAAAGAAGTTTCT
ATGGATGATCATAAACTTAGCCTTGATGAACTTCATCGTAAATATGGAACAGACTTGAGC
CGGGGATTAACATCTGCTCGTGCAGCTGAGATCCTGGCGCGAGATGGTCCCAACGCCCTC
ACTCCCCCTCCCACTACTCCTGAATGGATCAAGTTTTGTCGGCAGCTCTTTGGGGGGTTC
TCAATGTTACTGTGGATTGGAGCGATTCTTTGTTTCTTGGCTTATAGCATCCAAGCTGCT
ACAGAAGAGGAACCTCAAAACGATAATCTGTACCTGGGTGTGGTGCTATCAGCCGTTGTA
ATCATAACTGGTTGCTTCTCCTACTATCAAGAAGCTAAAAGTTCAAAGATCATGGAATCC
TTCAAAAACATGGTCCCTCAGCAAGCCCTTGTGATTCGAAATGGTGAGAAAATGAGCATA
AATGCGGAGGAAGTTGTGGTTGGGGATCTGGTGGAAGTAAAAGGAGGAGACCGAATTCCT
GCTGACCTCAGAATCATATCTGCAAATGGCTGCAAGGTGGATAACTCCTCGCTCACTGGT
GAATCAGAACCCCAGACTAGGTCTCCAGATTTCACAAATGAAAACCCCCTGGAGACGAGG
AACATTGCCTTCTTTTCAACAAATTGTGTTGAAGGCACCGCACGTGGTATTGTTGTCTAC
ACTGGGGATCGCACTGTGATGGGAAGAATTGCCACACTTGCTTCTGGGCTGGAAGGAGGC
CAGACCCCCATTGCTGCAGAAATTGAACATTTTATCCACATCATCACGGGTGTGGCTGTG
TTCCTGGGTGTGTCTTTCTTCATCCTTTCTCTCATCCTTGAGTACACCTGGCTTGAGGCT
GTCATCTTCCTCATCGGTATCATCGTAGCCAATGTGCCGGAAGGTTTGCTGGCCACTGTC
ACGGTCTGTCTGACACTTACTGCCAAACGCATGGCAAGGAAAAACTGCTTAGTGAAGAAC
TTAGAAGCTGTGGAGACCTTGGGGTCCACGTCCACCATCTGCTCTGATAAAACTGGAACT
CTGACTCAGAACCGGATGACAGTGGCCCACATGTGGTTTGACAATCAAATCCATGAAGCT
GATACGACAGAGAATCAGAGTGGTGTCTCTTTTGACAAGACTTCAGCTACCTGGCTTGCT
CTGTCCAGAATTGCAGGTCTTTGTAACAGGGCAGTGTTTCAGGCTAACCAGGAAAACCTA
CCTATTCTTAAGCGGGCAGTTGCAGGAGATGCCTCTGAGTCAGCACTCTTAAAGTGCATA
GAGCTGTGCTGTGGTTCCGTGAAGGAGATGAGAGAAAGATACGCCAAAATCGTCGAGATA
CCCTTCAACTCCACCAACAAGTACCAGTTGTCTATTCATAAGAACCCCAACACATCGGAG
CCCCAACACCTGTTGGTGATGAAGGGCGCCCCAGAAAGGATCCTAGACCGTTGCAGCTCT
ATCCTCCTCCACGGCAAGGAGCAGCCCCTGGATGAGGAGCTGAAAGACGCCTTTCAGAAC
GCCTATTTGGAGCTGGGGGGCCTCGGAGAACGAGTCCTAGGTTTCTGCCACCTCTTTCTG
CCAGATGAACAGTTTCCTGAAGGGTTCCAGTTTGACACTGACGATGTGAATTTCCCTATC
GATAATCTGTGCTTTGTTGGGCTCATCTCCATGATTGACCCTCCACGGGCGGCCGTTCCT
GATGCCGTGGGCAAATGTCGAAGTGCTGGAATTAAGGTCATCATGGTCACAGGAGACCAT
CCAATCACAGCTAAAGCTATTGCCAAAGGTGTGGGCATCATCTCAGAAGGCAATGAGACC
GTGGAAGACATTGCTGCCCGCCTCAACATCCCAGTCAGCCAGGTGAACCCCAGGGATGCC
AAGGCCTGCGTAGTACACGGCAGTGATCTAAAGGACATGACCTCCGAGCAGCTGGATGAC
ATTTTGAAGTACCACACTGAGATAGTGTTTGCCAGGACCTCCCCTCAGCAGAAGCTCATC
ATTGTGGAAGGCTGCCAAAGACAGGGTGCTATCGTGGCTGTGACTGGTGACGGTGTGAAT
GACTCTCCAGCTTTGAAGAAAGCAGACATTGGGGTTGCTATGGGGATTGCTGGCTCAGAT
GTGTCCAAGCAAGCTGCTGACATGATTCTTCTGGATGACAACTTTGCCTCAATTGTGACT
GGAGTAGAGGAAGGTCGTCTGATCTTTGATAACTTGAAGAAATCCATTGCTTATACCTTA
ACCAGTAACATTCCCGAGATCACCCCGTTCCTGATATTTATTATTGCAAACATTCCACTA
CCACTGGGGACTGTCACCATCCTCTGCATTGACTTGGGCACTGACATGGTTCCTGCCATC
TCCCTGGCTTATGAGCAGGCTGAGAGTGACATCATGAAGAGACAGCCCAGAAATCCCAAA
ACAGACAAACTTGTGAATGAGCGGCTGATCAGCATGGCCTATGGGCAGATTGGAATGATC
CAGGCCCTGGGAGGCTTCTTTACTTACTTTGTGATTCTGGCTGAGAACGGCTTCCTCCCA
ATTCACCTGTTGGGCCTCCGAGTGGACTGGGATGACCGCTGGATCAACGATGTGGAAGAC
AGCTACGGGCAGCAGTGGACCTATGAGCAGAGGAAAATCGTGGAGTTCACCTGCCACACA
GCCTTCTTCGTCAGTATCGTGGTGGTGCAGTGGGCCGACTTGGTCATCTGTAAGACCAGG
AGGAATTCGGTCTTCCAGCAGGGGATGAAGAACAAGATCTTGATATTTGGCCTCTTTGAA
GAGACAGCCCTGGCTGCTTTCCTTTCCTACTGCCCTGGAATGGGTGTTGCTCTTAGGATG
TATCCCCTCAAACCTACCTGGTGGTTCTGTGCCTTCCCCTACTCTCTTCTCATCTTCGTA
TATGACGAAGTCAGAAAACTCATCATCAGGCGACGCCCTGGCGGCTGGGTGGAGAAGGAA
ACCTACTATTAG
|
| Enzyme 9 GenBank Gene ID |
D00099  |
| Enzyme 9 GeneCard ID |
ATP1A1  |
| Enzyme 9 GenAtlas ID |
ATP1A1  |
| Enzyme 9 HGNC ID |
HGNC:799  |
| Enzyme 9 Chromosome Location |
1 |
| Enzyme 9 Locus |
1p21 |
| Enzyme 9 SNPs |
SNPJam Report  |
| Enzyme 9 General References |
- Kawakami K, Ohta T, Nojima H, Nagano K: Primary structure of the alpha-subunit of human Na,K-ATPase deduced from cDNA sequence. J Biochem (Tokyo). 1986 Aug;100(2):389-97. [PubMed
]
- Ruiz A, Bhat SP, Bok D: Characterization and quantification of full-length and truncated Na,K-ATPase alpha 1 and beta 1 RNA transcripts expressed in human retinal pigment epithelium. Gene. 1995 Apr 3;155(2):179-84. [PubMed
]
- Sverdlov ED, Monastyrskaya GS, Broude NE, Ushkaryov YuA, Allikmets RL, Melkov AM, Smirnov YuV, Malyshev IV, Dulobova IE, Petrukhin KE, et al.: The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit. FEBS Lett. 1987 Jun 15;217(2):275-8. [PubMed
]
- Chehab FF, Kan YW, Law ML, Hartz J, Kao FT, Blostein R: Human placental Na+,K+-ATPase alpha subunit: cDNA cloning, tissue expression, DNA polymorphism, and chromosomal localization. Proc Natl Acad Sci U S A. 1987 Nov;84(22):7901-5. [PubMed
]
- Shull MM, Pugh DG, Lingrel JB: The human Na, K-ATPase alpha 1 gene: characterization of the 5'-flanking region and identification of a restriction fragment length polymorphism. Genomics. 1990 Mar;6(3):451-60. [PubMed
]
- Shull MM, Lingrel JB: Multiple genes encode the human Na+,K+-ATPase catalytic subunit. Proc Natl Acad Sci U S A. 1987 Jun;84(12):4039-43. [PubMed
]
|
| Enzyme 9 Metabolite References |
Not Available |
|
Enzyme 10
[top]
|
| Enzyme 10 ID |
6712 |
| Enzyme 10 Name |
Sodium/potassium-transporting ATPase alpha-3 chain |
| Enzyme 10 Synonyms |
- Sodium pump 3
- Na(+/K(+ATPase 3
- Alpha(III
|
| Enzyme 10 Gene Name |
ATP1A3 |
| Enzyme 10 Protein Sequence |
>Sodium/potassium-transporting ATPase alpha-3 chain
MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQE
ILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNL
YLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDL
VEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCV
EGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILS
LILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGST
STICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNR
AVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQL
SIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGE
RVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAG
IKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDL
KDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADI
GVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPF
LLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLI
SMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQ
RKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSY
CPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY
|
| Enzyme 10 Number of Residues |
1013 |
| Enzyme 10 Molecular Weight |
111750 |
| Enzyme 10 Theoretical pI |
5.02 |
| Enzyme 10 GO Classification |
| Function |
- ATP binding
- ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
- adenyl nucleotide binding
- binding
- catalytic activity
- cation transporter activity
- hydrolase activity
- hydrolase activity, acting on acid anhydrides
- hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
- ion transporter activity
- monovalent inorganic cation transporter activity
- nucleotide binding
- purine nucleotide binding
- transporter activity
|
| Process |
- cation transport
- cellular physiological process
- ion transport
- metabolism
- monovalent inorganic cation transport
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 10 General Function |
Inorganic ion transport and metabolism |
| Enzyme 10 Specific Function |
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients |
| Enzyme 10 Pathways |
Not Available |
| Enzyme 10 Reactions |
- ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in)
|
| Enzyme 10 Pfam Domain Function |
|
| Enzyme 10 Signals |
|
| Enzyme 10 Transmembrane Regions |
- 78-98
122-142
279-298
311-328
763-782
793-813
834-856
909-928
942-960
976-996
|
| Enzyme 10 Essentiality |
Not Available |
| Enzyme 10 GenBank ID Protein |
497763  |
| Enzyme 10 UniProtKB/Swiss-Prot ID |
P13637  |
| Enzyme 10 UniProtKB/Swiss-Prot Entry Name |
AT1A3_HUMAN  |
| Enzyme 10 PDB ID |
Not Available |
| Enzyme 10 Cellular Location |
Not Available |
| Enzyme 10 Gene Sequence |
>3042 bp
ATGGGGGACAAGAAAGATGACAAGGACTCACCCAAGAAGAACAAGGGCAAGGAGCGCCGG
GACCTGGATGACCTCAAGAAGGAGGTGGCTATGACAGAGCACAAGATGTCAGTGGAAGAG
GTCTGCCGGAAATACAACACAGACTGTGTGCAGGGTTTGACCCACAGCAAAGCCCAGGAG
ATCCTGGCCCGGGATGGGCCTAACGCACTCACGCCACCGCCTACCACCCCAGAGTGGGTC
AAGTTTTGCCGGCAGCTCTTCGGGGGCTTCTCCATCCTGCTGTGGATCGGGGCTATCCTC
TGCTTCCTGGCCTACGGTATCCAGGCGGGCACCGAGGACGACCCCTCTGGTGACAACCTG
TACCTGGGCATCGTGCTGGCGGCCGTGGTGATCATCACTGGCTGCTTCTCCTACTACCAG
GAGGCCAAGAGCTCCAAGATCATGGAGTCCTTCAAGAACATGGTGCCCCAGCAAGCCCTG
GTGATCCGGGAAGGTGAGAAGATGCAGGTGAACGCTGAGGAGGTGGTGGTCGGGGACCTG
GTGGAGATCAAGGGTGGAGACCGAGTGCCAGCTGACCTGCGGATCATCTCAGCCCACGGC
TGCAAGGTGGACAACTCCTCCCTGACTGGCGAATCCGAGCCCCAGACTCGCTCTCCCGAC
TGCACGCACGACAACCCCTTGGAGACTCGGAACATCACCTTCTTTTCCACCAACTGTGTG
GAAGGCACGGCTCGGGGCGTGGTGGTGGCCACGGGCGACCGCACTGTCATGGGCCGTATC
GCCACCCTGGCATCAGGGCTGGAGGTGGGCAAGACGCCCATCGCCATCGAGATTGAGCAC
TTCATCCAGCTCATCACCGGCGTGGCTGTCTTCCTGGGTGTCTCCTTCTTCATCCTCTCC
CTCATTCTCGGATACACCTGGCTTGAGGCTGTCATCTTCCTCATCGGCATCATCGTGGCC
AATGTCCCAGAGGGTCTGCTGGCCACTGTCACTGTGTGTCTGACCGTGACCGCCAAGCGC
ATGGCCCGGAAGAACTGCCTGGTGAAGAACCTGGAGGCTGTAGAGACCCTGGGCTCCACG
TCCACCATCTGCTCAGATAAGACAGGGACCCTCACTCAGAACCGCATGACAGTCGCCCAC
ATGTGGTTTGACAACCAGATCCACGAGGCTGACACCACTGAGGACCAGTCAGGGACCTCA
TTTGACAAGAGTTCGCACACCTGGGTGGCCCTGTCTCACATCGCTGGGCTCTGCAATCGC
GCTGTCTTCAAGGGTGGTCAGGACAACATCCCTGTGCTCAAGAGGGATGTGGCTGGGGAT
GCGTCTGAGTCTGCCCTGCTCAAGTGCATCGAGCTGTCCTCTGGCTCCGTGAAGCTGATG
CGTGAACGAAACAAGAAAGTGGCTGAGATTCCCTTCAATTCCACCAACAAATACCAGCTC
TCCATCCATGAGACCGAGGACCCCAACGACAACCGATACCTGCTGGTGATGAAGGGTGCC
CCCGAGCGCATCCTGGACCGCTGCTCCACCATCCTGCTACAGGGCAAGGAGCAGCCTCTG
GACGAGGAAATGAAGGAGGCCTTTCAGAATGCCTACCTTGAGCTCGGTGGCCTGGGCGAG
CGCGTGCTTGGTTTCTGCCATTATTACCTGCCCGAGGAGCAGTATCCCCAAGGCTTTGCC
TTCGACTGTGATGACGTGAACTTCACCACGGACAACCTCTGCTTTGTGCCGCTCATGTCC
ATGATCGGCCCACCCCGGGCAGCCGTCCCTGACGCGGTGGGCAAGTGTCGCAGCGCAGGC
ATCAAGGTCATCATGGTCACCGGCGATCACCCCATCACGGCCAAGGCCATTGCCAAGGGT
GTGGGCATCATCTCTGAGGGCAACGAGACTGTGGAGGACATCGCCGCCCGGCTCAACATT
CCCGTCAGCCAGGTTAACCCCCGGGATGCCAAGGCCTGCGTGATCCACGGCACCGACCTC
AAGGACTTCACCTCCGAGCAAATCGACGAGATCCTGCAGAATCACACCGAGATCGTCTTC
GCCCGCACATCCCCCCAGCAGAAGCTCATCATTGTGGAGGGCTGTCAGAGACAGGGTGCA
ATTGTGGCTGTGACCGGGGATGGTGTGAACGACTCCCCCGCTCTGAAGAAGGCCGACATT
GGGGTGGCCATGGGCATCGCTGGCTCTGACGTCTCCAAGCAGGCAGCTGACATGATCCTG
CTGGACGACAACTTTGCCTCCATCGTCACAGGGGTGGAGGAGGGCCGCCTGATCTTCGAC
AACCTAAAGAAGTCCATTGCCTACACCCTGACCAGCAATATCCCGGAGATCACGCCCTTC
CTGCTGTTCATCATGGCCAACATCCCGCTGCCCCTGGGCACCATCACCATCCTCTGCATC
GATCTGGGCACTGACATGGTCCCTGCCATCTCACTGGCGTACGAGGCTGCCGAAAGCGAC
ATCATGAAGAGACAGCCCAGGAACCCGCGGACGGACAAATTGGTCAATGAGAGACTCATC
AGCATGGCCTACGGGCAGATTGGAATGATCCAGGCTCTCGGTGGCTTCTTCTCTTACTTT
GTGATCCTGGCAGAAAATGGCTTCTTGCCCGGCAACCTGGTGGGCATCCGGCTGAACTGG
GATGACCGCACCGTCAATGACCTGGAAGACAGTTACGGGCAGCAGTGGACATACGAGCAG
AGGAAGGTGGTGGAGTTCACCTGCCACACGGCCTTCTTTGTGAGCATCGTTGTCGTCCAG
TGGGCCGATCTGATCATCTGCAAGACCCGGAGGAACTCGGTCTTCCAGCAGGGCATGAAG
AACAAGATCCTGATCTTCGGGCTGTTTGAGGAGACGGCCCTGGCTGCCTTCCTGTCCTAC
TGCCCCGGAATGGACGTGGCCCTGCGCATGTACCCTCTCAAGCCCAGCTGGTGGTTCTGT
GCCTTCCCCTACAGTTTCCTCATCTTCGTCTACGACGAAATCCGCAAACTCATCCTGCGC
AGGAACCCAGGGGGTTCGGTGGAGAAGGAAACCTACTACTGA
|
| Enzyme 10 GenBank Gene ID |
M37457  |
| Enzyme 10 GeneCard ID |
ATP1A3  |
| Enzyme 10 GenAtlas ID |
ATP1A3  |
| Enzyme 10 HGNC ID |
HGNC:801  |
| Enzyme 10 Chromosome Location |
19 |
| Enzyme 10 Locus |
19q13.31 |
| Enzyme 10 SNPs |
SNPJam Report  |
| Enzyme 10 General References |
- Ovchinnikov YuA, Monastyrskaya GS, Broude NE, Ushkaryov YuA, Melkov AM, Smirnov YuV, Malyshev IV, Allikmets RL, Kostina MB, Dulubova IE, et al.: Family of human Na+, K+-ATPase genes. Structure of the gene for the catalytic subunit (alpha III-form) and its relationship with structural features of the protein. FEBS Lett. 1988 Jun 6;233(1):87-94. [PubMed
]
- Ovchinnikov YuA, Monastyrskaya GS, Broude NE, Allikmets RL, Ushkaryov YuA, Melkov AM, Smirnov YuV, Malyshev IV, Dulubova IE, Petrukhin KE, et al.: The family of human Na+,K+-ATPase genes. A partial nucleotide sequence related to the alpha-subunit. FEBS Lett. 1987 Mar 9;213(1):73-80. [PubMed
]
- Sverdlov ED, Monastyrskaya GS, Broude NE, Ushkaryov YuA, Allikmets RL, Melkov AM, Smirnov YuV, Malyshev IV, Dulobova IE, Petrukhin KE, et al.: The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit. FEBS Lett. 1987 Jun 15;217(2):275-8. [PubMed
]
|
| Enzyme 10 Metabolite References |
Not Available |
|
Enzyme 11
[top]
|
| Enzyme 11 ID |
6830 |
| Enzyme 11 Name |
Sodium/potassium-transporting ATPase alpha-2 chain precursor |
| Enzyme 11 Synonyms |
- Sodium pump 2
- Na(+/K(+ATPase 2
|
| Enzyme 11 Gene Name |
ATP1A2 |
| Enzyme 11 Protein Sequence |
>Sodium/potassium-transporting ATPase alpha-2 chain precursor
MGRGAGREYSPAATTAENGGGKKKQKEKELDELKKEVAMDDHKLSLDELGRKYQVDLSKG
LTNQRAQDVLARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAAME
DEPSNDNLYLGVVLAAVVIVTGCFSYYQEAKSSKIMDSFKNMVPQQALVIREGEKMQINA
EEVVVGDLVEVKGGDRVPADLRIISSHGCKVDNSSLTGESEPQTRSPEFTHENPLETRNI
CFFSTNCVEGTARGIVIATGDRTVMGRIATLASGLEVGRTPIAMEIEHFIQLITGVAVFL
GVSFFVLSLILGYSWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLE
AVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGATFDKRSPTWTALS
RIAGLCNRAVFKAGQENISVSKRDTAGDASESALLKCIELSCGSVRKMRDRNPKVAEIPF
NSTNKYQLSIHEREDSPQSHVLVMKGAPERILDRCSTILVQGKEIPLDKEMQDAFQNAYM
ELGGLGERVLGFCQLNLPSGKFPRGFKFDTDELNFPTEKLCFVGLMSMIDPPRAAVPDAV
GKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPMSQVNPREAKAC
VVHGSDLKDMTSEQLDEILKNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSP
ALKKADIGIAMGISGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSN
IPEITPFLLFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEAAESDIMKRQPRNSQTDK
LVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPSRLLGIRLDWDDRTMNDLEDSYG
QEWTYEQRKVVEFTCHTAFFASIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLLEETA
LAAFLSYCPGMGVALRMYPLKVTWWFCAFPYSLLIFIYDEVRKLILRRYPGGWVEKETYY
|
| Enzyme 11 Number of Residues |
1020 |
| Enzyme 11 Molecular Weight |
112267 |
| Enzyme 11 Theoretical pI |
5.33 |
| Enzyme 11 GO Classification |
| Function |
- ATP binding
- ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
- adenyl nucleotide binding
- binding
- catalytic activity
- cation transporter activity
- hydrolase activity
- hydrolase activity, acting on acid anhydrides
- hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
- ion transporter activity
- monovalent inorganic cation transporter activity
- nucleotide binding
- purine nucleotide binding
- transporter activity
|
| Process |
- cation transport
- cellular physiological process
- ion transport
- metabolism
- monovalent inorganic cation transport
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 11 General Function |
Inorganic ion transport and metabolism |
| Enzyme 11 Specific Function |
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients |
| Enzyme 11 Pathways |
Not Available |
| Enzyme 11 Reactions |
- ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in)
|
| Enzyme 11 Pfam Domain Function |
|
| Enzyme 11 Signals |
|
| Enzyme 11 Transmembrane Regions |
- 86-106
130-150
287-306
319-336
770-789
800-820
841-863
916-935
949-967
983-1003
|
| Enzyme 11 Essentiality |
Not Available |
| Enzyme 11 GenBank ID Protein |
179165  |
| Enzyme 11 UniProtKB/Swiss-Prot ID |
P50993  |
| Enzyme 11 UniProtKB/Swiss-Prot Entry Name |
AT1A2_HUMAN  |
| Enzyme 11 PDB ID |
Not Available |
| Enzyme 11 Cellular Location |
Not Available |
| Enzyme 11 Gene Sequence |
>3063 bp
ATGGGCCGTGGGGCTGGCCGTGAGTACTCACCTGCCGCCACCACGGCAGAGAATGGGGGC
GGCAAGAAGAAACAGAAGGAGAAGGAACTGGATGAGCTGAAGAAGGAGGTGGCAATGGAT
GACCACAAGCTGTCCTTGGATGAGCTGGGCCGCAAATACCAAGTGGACCTGTCCAAGGGC
CTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCA
CCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATC
CTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAG
GATGAACCATCCAACGACAATCTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTC
ACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAG
AACATGGTACCTCAGCAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCA
GAGGAAGTGGTGGTGGGAGACCTGGTGGAGGTGAAGGGTGGAGACCGCGTCCCTGCTGAC
CTCCGGATCATCTCTTCTCATGGCTGTAAGGTGGATAACTCATCCTTAACAGGAGAGTCG
GAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATC
TGTTTCTTCTCCACCAACTGTGTTGAAGGCACTGCCAGGGGCATTGTGATTGCCACAGGA
GACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACA
CCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTG
GGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATC
TTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTG
TGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAG
GCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACC
CAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACC
ACCGAAGATCAGTCTGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCT
CGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTG
TCTAAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTC
TCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTC
AACTCTACCAACAAGTACCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCAC
GTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTG
CAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATG
GAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGATTCTGTCAACTGAATCTGCCATCTGGA
AAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTT
TGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTG
GGCAAGTGCCGAAGCGCAGGCATCAAGGTGATCATGGTAACCGGGGATCACCCTATCACA
GCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGAC
ATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGAGAAGCCAAGGCATGC
GTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAG
AACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAG
GGATGTCAGAGGCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCT
GCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAG
CAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAG
GAGGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAAC
ATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGC
ACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTCCCTGCCATCTCCTTGGCC
TATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAG
CTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGGATGATCCAGGCACTG
GGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTA
CTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGA
CAGGAGTGGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTT
GCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCA
GTCTTCCAGCAGGGCATGAAGAACAAGATCCTGATTTTTGGGCTCCTGGAGGAGACGGCG
TTGGCTGCCTTTCTCTCTTACTGCCCAGGCATGGGTGTAGCCCTCCGCATGTACCCGCTC
AAAGTCACCTGGTGGTTCTGCGCCTTCCCCTACAGCCTCCTCATCTTCATCTATGATGAG
GTCCGAAAGCTCATCCTGCGGCGGTATCCTGGTGGCTGGGTGGAGAAGGAGACATACTAC
TGA
|
| Enzyme 11 GenBank Gene ID |
J05096  |
| Enzyme 11 GeneCard ID |
ATP1A2  |
| Enzyme 11 GenAtlas ID |
ATP1A2  |
| Enzyme 11 HGNC ID |
HGNC:800  |
| Enzyme 11 Chromosome Location |
1 |
| Enzyme 11 Locus |
1q21-q23 |
| Enzyme 11 SNPs |
SNPJam Report  |
| Enzyme 11 General References |
- Shull MM, Pugh DG, Lingrel JB: Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms. J Biol Chem. 1989 Oct 15;264(29):17532-43. [PubMed
]
- Shull MM, Lingrel JB: Multiple genes encode the human Na+,K+-ATPase catalytic subunit. Proc Natl Acad Sci U S A. 1987 Jun;84(12):4039-43. [PubMed
]
- Sverdlov ED, Monastyrskaya GS, Broude NE, Ushkaryov YuA, Allikmets RL, Melkov AM, Smirnov YuV, Malyshev IV, Dulobova IE, Petrukhin KE, et al.: The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit. FEBS Lett. 1987 Jun 15;217(2):275-8. [PubMed
]
- Sverdlov ED, Bessarab DA, Malyshev IV, Petrukhin KE, Smirnov YuV, Ushkaryov YuA, Monastyrskaya GS, Broude NE, Modyanov NN: Family of human Na+,K+-ATPase genes. Structure of the putative regulatory region of the alpha+-gene. FEBS Lett. 1989 Feb 27;244(2):481-3. [PubMed
]
- Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 1998 Oct 30;5(5):277-86. [PubMed
]
|
| Enzyme 11 Metabolite References |
Not Available |
|
Enzyme 12
[top]
|
| Enzyme 12 ID |
6935 |
| Enzyme 12 Name |
Organic cation/carnitine transporter 2 |
| Enzyme 12 Synonyms |
- Solute carrier family 22 member 5
- High-affinity sodium-dependent carnitine cotransporter
|
| Enzyme 12 Gene Name |
SLC22A5 |
| Enzyme 12 Protein Sequence |
>Organic cation/carnitine transporter 2
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSS
AWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFS
QDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQ
TGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYA
FGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKA
AKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFG
LSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLV
PPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYF
VYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTR
MLKDGQERPTILKSTAF
|
| Enzyme 12 Number of Residues |
557 |
| Enzyme 12 Molecular Weight |
62753 |
| Enzyme 12 Theoretical pI |
8.04 |
| Enzyme 12 GO Classification |
| Function |
- ion transporter activity
- transporter activity
|
| Process |
- cellular physiological process
- ion transport
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 12 General Function |
Carbohydrate transport and metabolism |
| Enzyme 12 Specific Function |
Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also Relative uptake activity ratio of carnitine to TEA is 11.3 |
| Enzyme 12 Pathways |
Not Available |
| Enzyme 12 Reactions |
Not Available |
| Enzyme 12 Pfam Domain Function |
|
| Enzyme 12 Signals |
|
| Enzyme 12 Transmembrane Regions |
- 21-41
143-163
173-193
198-218
233-253
258-278
342-362
374-394
407-427
431-451
463-483
489-509
|
| Enzyme 12 Essentiality |
Not Available |
| Enzyme 12 GenBank ID Protein |
3273741  |
| Enzyme 12 UniProtKB/Swiss-Prot ID |
O76082  |
| Enzyme 12 UniProtKB/Swiss-Prot Entry Name |
S22A5_HUMAN  |
| Enzyme 12 PDB ID |
Not Available |
| Enzyme 12 Cellular Location |
Not Available |
| Enzyme 12 Gene Sequence |
>1674 bp
ATGCGGGACTACGACGAGGTGACCGCCTTCCTGGGCGAGTGGGGGCCCTTCCAGCGCCTC
ATCTTCTTCCTGCTCAGCGCCAGCATCATCCCCAATGGCTTCACCGGCCTGTCCTCCGTG
TTCCTGATAGCGACCCCGGAGCACCGCTGCCGGGTGCCGGACGCCGCGAACCTGAGCAGC
GCCTGGCGCAACCACACTGTCCCACTGCGGCTGCGGGACGGCCGCGAGGTGCCCCACAGC
TGCCGCCGCTACCGGCTCGCCACCATCGCCAACTTCTCGGCGCTCGGGCTGGAGCCGGGG
CGCGACGTGGACCTGGGGCAGCTGGAGCAGGAGAGCTGTCTGGATGGCTGGGAGTTCAGT
CAGGACGTCTACCTGTCCACCATTGTGACCGAGTGGAACCTGGTGTGTGAGGACGACTGG
AAGGCCCCACTCACAATCTCCTTGTTCTTCGTGGGTGTGCTGTTGGGCTCCTTCATTTCA
GGGCAGCTGTCAGACAGGTTTGGCCGGAAGAATGTGCTGTTCGTGACCATGGGCATGCAG
ACAGGCTTCAGCTTCCTGCAGATCTTCTCGAAGAATTTTGAGATGTTTGTCGTGCTGTTT
GTCCTTGTAGGCATGGGCCAGATCTCCAACTATGTGGCAGCATTTGTCCTGGGGACAGAA
ATTCTTGGCAAGTCAGTTCGTATAATATTCTCTACGTTAGGAGTGTGCATATTTTATGCA
TTTGGCTACATGGTGCTGCCACTGTTTGCTTACTTCATCCGAGACTGGCGGATGCTGCTG
GTGGCGCTGACGATGCCGGGGGTGCTGTGCGTGGCACTCTGGTGGTTCATCCCTGAGTCC
CCCCGATGGCTCATCTCTCAGGGACGATTTGAAGAGGCAGAGGTGATCATCCGCAAGGCT
GCCAAAGCCAATGGGATTGTTGTGCCTTCCACTATCTTTGACCCGAGTGAGTTACAAGAC
CTAAGTTCCAAGAAGCAACAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATC
CGGATGGTCACCATCATGTCCATAATGCTGTGGATGACCATATCAGTGGGCTATTTTGGG
CTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTTCAGCG
ATGGTTGAAGTCCCAGCATATGTGTTGGCCTGGCTGCTGCTGCAATATTTGCCCCGGCGC
TATTCCATGGCCACTGCCCTCTTCCTGGGTGGCAGTGTCCTTCTCTTCATGCAGCTGGTA
CCCCCAGACTTGTATTATTTGGCTACAGTCCTGGTGATGGTGGGCAAGTTTGGAGTCACG
GCTGCCTTTTCCATGGTCTACGTGTACACAGCCGAGCTGTATCCCACAGTGGTGAGAAAC
ATGGGTGTGGGAGTCAGCTCCACAGCATCCCGCCTGGGCAGCATCCTGTCTCCCTACTTC
GTTTACCTTGGTGCCTACGACCGCTTCCTGCCCTACATTCTCATGGGAAGTCTGACCATC
CTGACAGCCATCCTCACCTTGTTTCTCCCAGAGAGCTTCGGTACCCCACTCCCAGACACC
ATTGACCAGATGCTAAGAGTCAAAGGAATGAAACACAGAAAAACTCCAAGTCACACAAGG
ATGTTAAAAGATGGTCAAGAAAGGCCCACAATCCTTAAAAGCACAGCCTTCTAA
|
| Enzyme 12 GenBank Gene ID |
AF057164  |
| Enzyme 12 GeneCard ID |
SLC22A5  |
| Enzyme 12 GenAtlas ID |
SLC22A5  |
| Enzyme 12 HGNC ID |
HGNC:10969  |
| Enzyme 12 Chromosome Location |
5 |
| Enzyme 12 Locus |
5q31 |
| Enzyme 12 SNPs |
SNPJam Report  |
| Enzyme 12 General References |
- Wu X, Prasad PD, Leibach FH, Ganapathy V: cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. Biochem Biophys Res Commun. 1998 May 29;246(3):589-95. [PubMed
]
- Tamai I, Ohashi R, Nezu J, Yabuuchi H, Oku A, Shimane M, Sai Y, Tsuji A: Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. J Biol Chem. 1998 Aug 7;273(32):20378-82. [PubMed
]
- Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A: Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet. 1999 Jan;21(1):91-4. [PubMed
]
- Wu X, Huang W, Prasad PD, Seth P, Rajan DP, Leibach FH, Chen J, Conway SJ, Ganapathy V: Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter. J Pharmacol Exp Ther. 1999 Sep;290(3):1482-92. [PubMed
]
- Burwinkel B, Kreuder J, Schweitzer S, Vorgerd M, Gempel K, Gerbitz KD, Kilimann MW: Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. Biochem Biophys Res Commun. 1999 Aug 2;261(2):484-7. [PubMed
]
- Vaz FM, Scholte HR, Ruiter J, Hussaarts-Odijk LM, Pereira RR, Schweitzer S, de Klerk JB, Waterham HR, Wanders RJ: Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. Hum Genet. 1999 Jul-Aug;105(1-2):157-61. [PubMed
]
- Tang NL, Ganapathy V, Wu X, Hui J, Seth P, Yuen PM, Wanders RJ, Fok TF, Hjelm NM: Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. Hum Mol Genet. 1999 Apr;8(4):655-60. [PubMed
]
- Koizumi A, Nozaki J, Ohura T, Kayo T, Wada Y, Nezu J, Ohashi R, Tamai I, Shoji Y, Takada G, Kibira S, Matsuishi T, Tsuji A: Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. Hum Mol Genet. 1999 Nov;8(12):2247-54. [PubMed
]
- Seth P, Wu X, Huang W, Leibach FH, Ganapathy V: Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function. J Biol Chem. 1999 Nov 19;274(47):33388-92. [PubMed
]
- Mayatepek E, Nezu J, Tamai I, Oku A, Katsura M, Shimane M, Tsuji A: Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency. Hum Mutat. 2000 Jan;15(1):118. [PubMed
]
- Wang Y, Kelly MA, Cowan TM, Longo N: A missense mutation in the OCTN2 gene associated with residual carnitine transport activity. Hum Mutat. 2000;15(3):238-45. [PubMed
]
|
| Enzyme 12 Metabolite References |
Not Available |
|
Enzyme 13
[top]
|
| Enzyme 13 ID |
7119 |
| Enzyme 13 Name |
Beta-1-syntrophin |
| Enzyme 13 Synonyms |
- 59 kDa dystrophin-associated protein A1 basic component 1
- DAPA1B
- Tax interaction protein 43
- TIP-43
- Syntrophin 2
- BSYN2
|
| Enzyme 13 Gene Name |
SNTB1 |
| Enzyme 13 Protein Sequence |
>Beta-1-syntrophin
MAVAAAAAAAGPAGAGGGRAQRSGLLEVLVRDRWHKVLVNLSEDALVLSSEEGAAAYNGI
GTATNGSFCRGAGAGHPGAGGAQPPDSPAGVRTAFTDLPEQVPESISNQKRGVKVLKQEL
GGLGISIKGGKENKMPILISKIFKGLAADQTQALYVGDAILSVNGADLRDATHDEAVQAL
KRAGKEVLLEVKYMREATPYVKKGSPVSEIGWETPPPESPRLGGSTSDPPSSQSFSFHRD
RKSIPLKMCYVTRSMALADPENRQLEIHSPDAKHTVILRSKDSATAQAWFSAIHSNVNDL
LTRVIAEVREQLGKTGIAGSREIRHLGWLAEKVPGESKKQWKPALVVLTEKDLLIYDSMP
RRKEAWFSPVHTYPLLATRLVHSGPGKGSPQAGVDLSFATRTGTRQGIETHLFRAETSRD
LSHWTRSIVQGCHNSAELIAEISTACTYKNQECRLTIHYENGFSITTEPQEGAFPKTIIQ
SPYEKLKMSSDDGIRMLYLDFGGKDGEIQLDLHSCPKPIVFIIHSFLSAKITRLGLVA
|
| Enzyme 13 Number of Residues |
538 |
| Enzyme 13 Molecular Weight |
58062 |
| Enzyme 13 Theoretical pI |
8.91 |
| Enzyme 13 GO Classification |
| Function |
|
| Process |
| — |
| Component |
| — |
|
| Enzyme 13 General Function |
Not Available |
| Enzyme 13 Specific Function |
Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex |
| Enzyme 13 Pathways |
Not Available |
| Enzyme 13 Reactions |
Not Available |
| Enzyme 13 Pfam Domain Function |
|
| Enzyme 13 Signals |
|
| Enzyme 13 Transmembrane Regions |
|
| Enzyme 13 Essentiality |
Not Available |
| Enzyme 13 GenBank ID Protein |
1066340  |
| Enzyme 13 UniProtKB/Swiss-Prot ID |
Q13884  |
| Enzyme 13 UniProtKB/Swiss-Prot Entry Name |
SNTB1_HUMAN  |
| Enzyme 13 PDB ID |
Not Available |
| Enzyme 13 Cellular Location |
Not Available |
| Enzyme 13 Gene Sequence |
>1617 bp
ATGGCGGTAGCGGCGGCGGCGGCGGCGGCTGGGCCGGCTGGCGCGGGAGGCGGCCGGGCG
CAGCGGAGCGGGCTGCTGGAAGTTTTGGTGCGGGATCGCTGGCACAAAGTTCTGGTGAAC
TTGAGCGAGGACGCCCTGGTTCTGAGCAGCGAGGAGGGCGCTGCGGCGTACAACGGCATC
GGGACCGCCACCAATGGCTCGTTCTGCAGGGGCGCCGGGGCTGGGCACCCGGGCGCGGGC
GGCGCGCAGCCCCCGGACTCGCCCGCCGGGGTCCGCACCGCTTTCACCGACCTGCCCGAG
CAGGTGCCCGAGTCCATCTCGAACCAGAAGCGTGGCGTGAAGGTGCTGAAGCAGGAGCTG
GGCGGGCTGGGGATCAGCATCAAGGGGGGCAAGGAGAACAAGATGCCCATCCTCATCAGC
AAGATCTTCAAGGGGCTGGCGGCGGACCAGACCCAAGCCCTGTACGTGGGCGACGCCATC
CTGTCGGTGAACGGAGCCGACCTGCGGGACGCCACCCACGACGAGGCGGTGCAGGCGTTG
AAGCGCGCGGGCAAGGAAGTGCTGCTGGAAGTGAAGTACATGCGAGAAGCCACGCCCTAT
GTGAAGAAAGGATCCCCAGTATCCGAGATTGGGTGGGAAACACCTCCGCCTGAATCCCCT
CGGTTAGGGGGCAGCACCTCAGACCCCCCGTCATCGCAGTCCTTCTCCTTCCACAGAGAC
CGGAAAAGCATCCCCCTCAAAATGTGCTACGTCACTCGGAGTATGGCCTTGGCCGACCCT
GAGAACAGGCAGCTTGAAATCCACTCTCCAGATGCTAAGCACACGGTGATCCTAAGGAGC
AAGGACTCAGCCACGGCCCAGGCATGGTTCAGTGCCATCCATTCCAACGTTAATGACCTG
CTGACCCGAGTGATTGCTGAGGTCAGAGAGCAGCTGGGGAAAACAGGCATTGCTGGGAGC
CGAGAGATTAGGCATCTTGGCTGGCTTGCAGAAAAGGTGCCAGGGGAGAGCAAGAAACAG
TGGAAACCAGCCCTGGTTGTGCTGACTGAGAAAGACCTTTTAATCTATGACAGCATGCCA
CGGAGGAAGGAAGCCTGGTTCAGCCCAGTTCACACATACCCTCTTCTTGCCACCAGGCTG
GTCCATTCAGGTCCAGGAAAGGGATCACCCCAGGCTGGTGTGGATCTGTCCTTTGCAACG
CGAACTGGTACCAGGCAAGGGATTGAAACACATCTCTTCAGAGCAGAGACCAGCAGGGAC
CTCTCCCACTGGACAAGGAGCATAGTACAGGGTTGCCACAATTCTGCTGAACTCATTGCT
GAAATCAGCACTGCTTGCACCTACAAAAACCAGGAGTGCCGTTTGACCATACATTATGAG
AATGGATTTTCTATTACCACTGAACCACAGGAGGGTGCCTTTCCCAAGACCATCATACAG
TCTCCTTATGAAAAGCTCAAAATGTCTTCAGATGATGGAATCAGGATGCTGTATTTAGAT
TTTGGAGGCAAAGATGGAGAGATTCAACTGGACCTTCATTCCTGCCCCAAGCCAATTGTT
TTCATCATTCATTCCTTCCTGTCAGCTAAGATTACAAGACTGGGCTTGGTGGCCTGA
|
| Enzyme 13 GenBank Gene ID |
L31529  |
| Enzyme 13 GeneCard ID |
SNTB1  |
| Enzyme 13 GenAtlas ID |
SNTB1  |
| Enzyme 13 HGNC ID |
HGNC:11168  |
| Enzyme 13 Chromosome Location |
8 |
| Enzyme 13 Locus |
8q23-q24 |
| Enzyme 13 SNPs |
SNPJam Report  |
| Enzyme 13 General References |
- Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM: Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. Proc Natl Acad Sci U S A. 1994 May 10;91(10):4446-50. [PubMed
]
- Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. Nat Biotechnol. 2003 May;21(5):566-9. Epub 2003 Mar 31. [PubMed
]
- Rousset R, Fabre S, Desbois C, Bantignies F, Jalinot P: The C-terminus of the HTLV-1 Tax oncoprotein mediates interaction with the PDZ domain of cellular proteins. Oncogene. 1998 Feb 5;16(5):643-54. [PubMed
]
- Ahn AH, Kunkel LM: Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol. 1995 Feb;128(3):363-71. [PubMed
]
|
| Enzyme 13 Metabolite References |
Not Available |
|
Enzyme 14
[top]
|
| Enzyme 14 ID |
7166 |
| Enzyme 14 Name |
Phosphate-regulating neutral endopeptidase |
| Enzyme 14 Synonyms |
- Metalloendopeptidase homolog PEX
- X-linked hypophosphatemia protein
- HYP
- Vitamin D-resistant hypophosphatemic rickets protein
|
| Enzyme 14 Gene Name |
PHEX |
| Enzyme 14 Protein Sequence |
>Phosphate-regulating neutral endopeptidase
MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSLQAKQEYCLKPECI
EAAAAILSKVNLSVDPCDNFFRFACDGWISNNPIPEDMPSYGVYPWLRHNVDLKLKELLE
KSISRRRDTEAIQKAKILYSSCMNEKAIEKADAKPLLHILRHSPFRWPVLESNIGPEGVW
SERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEHILKLDQATLSLAVREDYLDNST
EAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIKIAEIMIPHENRTSEAMYNKM
NISELSAMIPQFDWLGYIKKVIDTRLYPHLKDISPSENVVVRVPQYFKDLFRILGSERKK
TIANYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQGTTTLLPQWDKCVNFIESALPYVVGK
MFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKENEWMDAGTKRKAKEKARAVLAKVGYPE
FIMNDTHVNEDLKAIKFSEADYFGNVLQTRKYLAQSDFFWLRKAVPKTEWFTNPTTVNAF
YSASTNQIRFPAGELQKPFFWGTEYPRSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLD
PWWSTESEEKFKEKTKCMINQYSNYYWKKAGLNVKGKRTLGENIADNGGLREAFRAYRKW
INDRRQGLEEPLLPGITFTNNQLFFLSYAHVRCNSYRPEAAREQVQIGAHSPPQFRVNGA
ISNFEEFQKAFNCPPNSTMNRGMDSCRLW
|
| Enzyme 14 Number of Residues |
749 |
| Enzyme 14 Molecular Weight |
86475 |
| Enzyme 14 Theoretical pI |
9.05 |
| Enzyme 14 GO Classification |
| Function |
- binding
- catalytic activity
- cation binding
- endopeptidase activity
- hydrolase activity
- ion binding
- metalloendopeptidase activity
- metallopeptidase activity
- neprilysin activity
- peptidase activity
- transition metal ion binding
- zinc ion binding
|
| Process |
- cellular protein metabolism
- macromolecule metabolism
- metabolism
- physiological process
- protein metabolism
- proteolysis
|
| Component |
|
|
| Enzyme 14 General Function |
Posttranslational modification, protein turnover, chaperones |
| Enzyme 14 Specific Function |
Probably involved in bone and dentin mineralization and renal phosphate reabsorption |
| Enzyme 14 Pathways |
Not Available |
| Enzyme 14 Reactions |
Not Available |
| Enzyme 14 Pfam Domain Function |
|
| Enzyme 14 Signals |
|
| Enzyme 14 Transmembrane Regions |
Not Available |
| Enzyme 14 Essentiality |
Not Available |
| Enzyme 14 GenBank ID Protein |
1707524  |
| Enzyme 14 UniProtKB/Swiss-Prot ID |
P78562  |
| Enzyme 14 UniProtKB/Swiss-Prot Entry Name |
PHEX_HUMAN  |
| Enzyme 14 PDB ID |
Not Available |
| Enzyme 14 Cellular Location |
Not Available |
| Enzyme 14 Gene Sequence |
>118 bp
ATGGAAGCAGAAACAGGGAGCAGCGTGGAGACTGGAAAGAAGGCCAACAGAGGCACTCGA
ATTGCCCTGGTCGTGTTTGTCGGTGGCACCCTAGTTCTGGGCACGATCCTCTTTCTAG
|
| Enzyme 14 GenBank Gene ID |
Y08111  |
| Enzyme 14 GeneCard ID |
PHEX  |
| Enzyme 14 GenAtlas ID |
PHEX  |
| Enzyme 14 HGNC ID |
HGNC:8918  |
| Enzyme 14 Chromosome Location |
X |
| Enzyme 14 Locus |
Xp22.2-p22.1 |
| Enzyme 14 SNPs |
SNPJam Report  |
| Enzyme 14 General References |
- Francis F, Strom TM, Hennig S, Boddrich A, Lorenz B, Brandau O, Mohnike KL, Cagnoli M, Steffens C, Klages S, Borzym K, Pohl T, Oudet C, Econs MJ, Rowe PS, Reinhardt R, Meitinger T, Lehrach H: Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. Genome Res. 1997 Jun;7(6):573-85. [PubMed
]
- Beck L, Soumounou Y, Martel J, Krishnamurthy G, Gauthier C, Goodyer CG, Tenenhouse HS: Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice. J Clin Invest. 1997 Mar 15;99(6):1200-9. [PubMed
]
- Guo R, Quarles LD: Cloning and sequencing of human PEX from a bone cDNA library: evidence for its developmental stage-specific regulation in osteoblasts. J Bone Miner Res. 1997 Jul;12(7):1009-17. [PubMed
]
- Grieff M, Mumm S, Waeltz P, Mazzarella R, Whyte MP, Thakker RV, Schlessinger D: Expression and cloning of the human X-linked hypophosphatemia gene cDNA. Biochem Biophys Res Commun. 1997 Feb 24;231(3):635-9. [PubMed
]
- Holm IA, Huang X, Kunkel LM: Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet. 1997 Apr;60(4):790-7. [PubMed
]
- A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet. 1995 Oct;11(2):130-6. [PubMed
]
- Rowe PS, Oudet CL, Francis F, Sinding C, Pannetier S, Econs MJ, Strom TM, Meitinger T, Garabedian M, David A, Macher MA, Questiaux E, Popowska E, Pronicka E, Read AP, Mokrzycki A, Glorieux FH, Drezner MK, Hanauer A, Lehrach H, Goulding JN, O'Riordan JL: Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Hum Mol Genet. 1997 Apr;6(4):539-49. [PubMed
]
- Econs MJ, Friedman NE, Rowe PS, Speer MC, Francis F, Strom TM, Oudet C, Smith JA, Ninomiya JT, Lee BE, Bergen H: A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 1998 Oct;83(10):3459-62. [PubMed
]
- Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner JM, Schmidtke J, Shah B, Shaw N, Smith C, Tau C, Schlessinger D, Whyte MP, Thakker RV: Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab. 1998 Oct;83(10):3615-23. [PubMed
]
- Filisetti D, Ostermann G, von Bredow M, Strom T, Filler G, Ehrich J, Pannetier S, Garnier JM, Rowe P, Francis F, Julienne A, Hanauer A, Econs MJ, Oudet C: Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. Eur J Hum Genet. 1999 Jul;7(5):615-9. [PubMed
]
- Tyynismaa H, Kaitila I, Nanto-Salonen K, Ala-Houhala M, Alitalo T: Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. Hum Mutat. 2000 Apr;15(4):383-4. [PubMed
]
- Sato K, Tajima T, Nakae J, Adachi M, Asakura Y, Tachibana K, Suwa S, Katsumata N, Tanaka T, Hayashi Y, Abe S, Murashita M, Okuhara K, Shinohara N, Fujieda K: Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. Pediatr Res. 2000 Oct;48(4):536-40. [PubMed
]
|
| Enzyme 14 Metabolite References |
Not Available |
|
Enzyme 15
[top]
|
| Enzyme 15 ID |
7172 |
| Enzyme 15 Name |
Neutral and basic amino acid transport protein rBAT |
| Enzyme 15 Synonyms |
- B(0,+-type amino acid transport protein
- NBAT
- D2H
|
| Enzyme 15 Gene Name |
SLC3A1 |
| Enzyme 15 Protein Sequence |
>Neutral and basic amino acid transport protein rBAT
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFK
GVQPYAGMPKEVLFQFSGQARYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQE
GPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTVWITSFYKSSLKDFRYGVEDF
REVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWH
DCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEIL
RFWLTKGVDGFSLDAVKFLLEAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDI
VRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLPFIQEADFPFNNYLSMLDTVS
GNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYY
GEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDV
QKTQPRSALKLYQDLSLLHANELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFG
ESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFLDKGEGLIFEHNTKNLLHRQT
AFRDRCFVSNRACYSSVLNILYTSC
|
| Enzyme 15 Number of Residues |
685 |
| Enzyme 15 Molecular Weight |
78853 |
| Enzyme 15 Theoretical pI |
5.81 |
| Enzyme 15 GO Classification |
| Function |
- alpha-amylase activity
- amylase activity
- catalytic activity
- hydrolase activity
- hydrolase activity, acting on glycosyl bonds
- hydrolase activity, hydrolyzing O-glycosyl compounds
|
| Process |
- carbohydrate metabolism
- macromolecule metabolism
- metabolism
- physiological process
|
| Component |
| — |
|
| Enzyme 15 General Function |
Carbohydrate transport and metabolism |
| Enzyme 15 Specific Function |
Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule |
| Enzyme 15 Pathways |
Not Available |
| Enzyme 15 Reactions |
Not Available |
| Enzyme 15 Pfam Domain Function |
|
| Enzyme 15 Signals |
|
| Enzyme 15 Transmembrane Regions |
|
| Enzyme 15 Essentiality |
Not Available |
| Enzyme 15 GenBank ID Protein |
306442  |
| Enzyme 15 UniProtKB/Swiss-Prot ID |
Q07837  |
| Enzyme 15 UniProtKB/Swiss-Prot Entry Name |
SLC31_HUMAN  |
| Enzyme 15 PDB ID |
Not Available |
| Enzyme 15 Cellular Location |
Not Available |
| Enzyme 15 Gene Sequence |
>2058 bp
ATGGCTGAAGATAAAAGCAAGAGAGACTCCATCGAGATGAGTATGAAGGGATGCCAGACA
AACAACGGGTTTGTCCATAATGAAGACATTCTGGAGCAGACCCCGGATCCAGGCAGCTCA
ACAGACAACCTGAAGCACAGCACCAGGGGCATCCTTGGCTCCCAGGAGCCCGACTTCAAG
GGCGTCCAGCCCTATGCGGGGATGCCCAAGGAGGTGCTGTTCCAGTTCTCTGGCCAGGCC
CGCTACCGCATACCTCGGGAGATCCTCTTCTGGCTCACAGTGGCTTCTGTGCTGGTGCTC
ATCGCGGCCACCATAGCCATCATTGCCCTCTCTCCAAAGTGCCTAGACTGGTGGCAGGAG
GGGCCCATGTACCAGATCTACCCAAGGTCTTTCAAGGACAGTAACAAGGATGGGAACGGA
GATCTGAAAGGTATTCAAGATAAACTGGACTACATCACAGCTTTAAATATAAAAACTGTT
TGGATTACTTCATTTTATAAATCGTCCCTTAAAGATTTCAGATATGGTGTTGAAGATTTC
CGGGAAGTTGATCCCATTTTTGGAACGATGGAAGATTTTGAGAATCTGGTTGCAGCCATA
CATGATAAAGGTTTAAAATTAATCATCGATTTCATACCAAACCACACGAGTGATAAACAT
ATTTGGTTTCAATTGAGTCGGACACGGACAGGAAAATATACTGATTATTATATCTGGCAT
GACTGTACCCATGAAAATGGCAAAACCATTCCACCCAACAACTGGTTAAGTGTGTATGGA
AACTCCAGTTGGCACTTTGACGAAGTGCGAAACCAATGTTATTTTCATCAGTTTATGAAA
GAGCAACCTGATTTAAATTTCCGCAATCCTGATGTTCAAGAAGAAATAAAAGAAATTTTA
CGGTTCTGGCTCACAAAGGGTGTTGATGGTTTTAGTTTGGATGCTGTTAAATTCCTCCTA
GAAGCAAAGCACCTGAGAGATGAGATCCAAGTAAATAAGACCCAAATCCCGGACACGGTC
ACACAATACTCGGAGCTGTACCATGACTTCACCACCACGCAGGTGGGAATGCACGACATT
GTCCGCAGCTTCCGGCAGACCATGGACCAATACAGCACGGAGCCCGGCAGATACAGGTTC
ATGGGGACTGAAGCCTATGCAGAGAGTATTGACAGGACCGTGATGTACTATGGATTGCCA
TTTATCCAAGAAGCTGATTTTCCCTTCAACAATTACCTCAGCATGCTAGACACTGTTTCT
GGGAACAGCGTGTATGAGGTTATCACATCCTGGATGGAAAACATGCCAGAAGGAAAATGG
CCTAACTGGATGATTGGTGGACCAGACAGTTCACGGCTGACTTCGCGTTTGGGGAATCAG
TATGTCAACGTGATGAACATGCTTCTTTTCACACTCCCTGGAACTCCTATAACTTACTAT
GGAGAAGAAATTGGAATGGGAAATATTGTAGCCGCAAATCTCAATGAAAGCTATGATATT
AATACCCTTCGCTCAAAGTCACCAATGCAGTGGGACAATAGTTCAAATGCTGGTTTTTCT
GAAGCTAGTAACACCTGGTTACCTACCAATTCAGATTACCACACTGTGAATGTTGATGTC
CAAAAGACTCAGCCCAGATCGGCTTTGAAGTTATATCAAGATTTAAGTCTACTTCATGCC
AATGAGCTACTCCTCAACAGGGGCTGGTTTTGCCATTTGAGGAATGACAGCCACTATGTT
GTGTACACAAGAGAGCTGGATGGCATCGACAGAATCTTTATCGTGGTTCTGAATTTTGGA
GAATCAACACTGTTAAATCTACATAATATGATTTCGGGCCTTCCCGCTAAAATAAGAATA
AGGTTAAGTACCAATTCTGCCGACAAAGGCAGTAAAGTTGATACAAGTGGCATTTTTCTG
GACAAGGGAGAGGGACTCATCTTTGAACACAACACGAAGAATCTCCTTCATCGCCAAACA
GCTTTCAGAGATAGATGCTTTGTTTCCAATCGAGCATGCTATTCCAGTGTACTGAACATA
CTGTATACCTCGTGTTAG
|
| Enzyme 15 GenBank Gene ID |
M95548  |
| Enzyme 15 GeneCard ID |
SLC3A1  |
| Enzyme 15 GenAtlas ID |
SLC3A1  |
| Enzyme 15 HGNC ID |
HGNC:11025  |
| Enzyme 15 Chromosome Location |
2 |
| Enzyme 15 Locus |
2p16.3 |
| Enzyme 15 SNPs |
SNPJam Report  |
| Enzyme 15 General References |
- Lee WS, Wells RG, Sabbag RV, Mohandas TK, Hediger MA: Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. J Clin Invest. 1993 May;91(5):1959-63. [PubMed
]
- Bertran J, Werner A, Chillaron J, Nunes V, Biber J, Testar X, Zorzano A, Estivill X, Murer H, Palacin M: Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes. J Biol Chem. 1993 Jul 15;268(20):14842-9. [PubMed
]
- Miyamoto K, Segawa H, Tatsumi S, Katai K, Yamamoto H, Taketani Y, Haga H, Morita K, Takeda E: Effects of truncation of the COOH-terminal region of a Na+-independent neutral and basic amino acid transporter on amino acid transport in Xenopus oocytes. J Biol Chem. 1996 Jul 12;271(28):16758-63. [PubMed
]
- Endsley JK, Phillips JA 3rd, Hruska KA, Denneberg T, Carlson J, George AL Jr: Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. Kidney Int. 1997 Jun;51(6):1893-9. [PubMed
]
- Mizoguchi K, Cha SH, Chairoungdua A, Kim DK, Shigeta Y, Matsuo H, Fukushima J, Awa Y, Akakura K, Goya T, Ito H, Endou H, Kanai Y: Human cystinuria-related transporter: localization and functional characterization. Kidney Int. 2001 May;59(5):1821-33. [PubMed
]
- Pfeiffer R, Loffing J, Rossier G, Bauch C, Meier C, Eggermann T, Loffing-Cueni D, Kuhn LC, Verrey F: Luminal heterodimeric amino acid transporter defective in cystinuria. Mol Biol Cell. 1999 Dec;10(12):4135-47. [PubMed
]
- Calonge MJ, Volpini V, Bisceglia L, Rousaud F, de Sanctis L, Beccia E, Zelante L, Testar X, Zorzano A, Estivill X, et al.: Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. Proc Natl Acad Sci U S A. 1995 Oct 10;92(21):9667-71. [PubMed
]
- Calonge MJ, Gasparini P, Chillaron J, Chillon M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F, et al.: Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet. 1994 Apr;6(4):420-5. [PubMed
]
- Pras E, Raben N, Golomb E, Arber N, Aksentijevich I, Schapiro JM, Harel D, Katz G, Liberman U, Pras M, et al.: Mutations in the SLC3A1 transporter gene in cystinuria. Am J Hum Genet. 1995 Jun;56(6):1297-303. [PubMed
]
- Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A, et al.: Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. Am J Hum Genet. 1995 Oct;57(4):781-8. [PubMed
]
- Miyamoto K, Katai K, Tatsumi S, Sone K, Segawa H, Yamamoto H, Taketani Y, Takada K, Morita K, Kanayama H, et al.: Mutations of the basic amino acid transporter gene associated with cystinuria. Biochem J. 1995 Sep 15;310 ( Pt 3):951-5. [PubMed
]
|
| Enzyme 15 Metabolite References |
Not Available |
|
Enzyme 16
[top]
|
| Enzyme 16 ID |
7176 |
| Enzyme 16 Name |
B(0,+)-type amino acid transporter 1 |
| Enzyme 16 Synonyms |
- B(0,+AT
- Glycoprotein- associated amino acid transporter b0,+AT1
|
| Enzyme 16 Gene Name |
SLC7A9 |
| Enzyme 16 Protein Sequence |
>B(0,+)-type amino acid transporter 1
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTE
AVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVI
KPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIF
TAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNY
ITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYP
ASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGI
IATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLI
SVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVV
PPEEDPE
|
| Enzyme 16 Number of Residues |
487 |
| Enzyme 16 Molecular Weight |
53482 |
| Enzyme 16 Theoretical pI |
8.21 |
| Enzyme 16 GO Classification |
| Function |
- amine transporter activity
- amino acid transporter activity
- amino acid-polyamine transporter activity
- transporter activity
|
| Process |
- amine transport
- amino acid transport
- cellular physiological process
- physiological process
- transport
|
| Component |
|
|
| Enzyme 16 General Function |
Amino acid transport and metabolism |
| Enzyme 16 Specific Function |
Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high- affinity reabsorption of cystine in the kidney tubule |
| Enzyme 16 Pathways |
Not Available |
| Enzyme 16 Reactions |
Not Available |
| Enzyme 16 Pfam Domain Function |
|
| Enzyme 16 Signals |
|
| Enzyme 16 Transmembrane Regions |
- 30-50
61-81
100-120
149-169
179-199
211-231
252-272
297-317
349-369
375-395
410-430
435-455
|
| Enzyme 16 Essentiality |
Not Available |
| Enzyme 16 GenBank ID Protein |
5916108  |
| Enzyme 16 UniProtKB/Swiss-Prot ID |
P82251  |
| Enzyme 16 UniProtKB/Swiss-Prot Entry Name |
BAT1_HUMAN  |
| Enzyme 16 PDB ID |
Not Available |
| Enzyme 16 Cellular Location |
Not Available |
| Enzyme 16 Gene Sequence |
>1464 bp
ATGGGGGATACTGGCCTGAGAAAGCGGAGAGAGGATGAGAAGTCGATCCAGAGCCAAGAG
CCTAAGACCACCAGTCTCCAAAAGGAGCTGGGCCTCATCAGTGGCATCTCCATCATCGTG
GGCACCATCATTGGCTCTGGGATCTTCGTTTCCCCCAAGTCTGTGCTCAGCAACACGGAA
GCTGTGGGGCCCTGCCTCATCATATGGGCGGCTTGCGGGGTCCTCGCGACGCTGGGTGCC
CTGTGCTTTGCGGAGCTTGGCACAATGATCACCAAGTCAGGGGGAGAGTATCCCTACCTG
ATGGAGGCCTACGGGCCCATCCCCGCCTACCTCTTCTCCTGGGCCAGCCTGATCGTCATT
AAGCCCACGTCCTTCGCCATCATCTGCCTCAGCTTCTCCGAGTATGTGTGTGCGCCCTTC
TATGTGGGCTGCAAGCCTCCTCAAATCGTTGTGAAATGCCTGGCCGCCGCCGCCATCTTG
TTCATCTCGACAGTGAACTCACTGAGCGTGCGGCTGGGAAGCTACGTCCAGAACATCTTC
ACCGCGGCCAAGCTGGTGATCGTGGCCATCATCATCATCAGCGGGCTGGTGCTCCTGGCC
CAAGGAAACACAAAGAATTTTGATAATTCTTTCGAGGGCGCCCAGCTGTCTGTGGGAGCC
ATCAGCCTGGCGTTTTACAATGGACTCTGGGCCTATGATGGATGGAATCAACTCAATTAC
ATCACAGAAGAACTTAGAAACCCTTACAGAAACCTGCCTTTGGCCATTATCATCGGGATC
CCCCTGGTGACGGCGTGCTACATCCTCATGAACGTGTCCTACTTCACCGTGATGACTGCC
ACCGAACTCCTGCAGTCCCAGGCGGTGGCTGTGACATTTGGTGACCGTGTTCTCTATCCT
GCTTCTTGGATCGTTCCACTTTTTGTGGCATTTTCAACCATCGGTGCTGCTAACGGGACC
TGCTTCACAGCGGGCAGACTCATTTACGTGGCGGGCCGGGAGGGTCACATGCTCAAAGTG
CTTTCTTACATCAGCGTCAGGCGCCTCACTCCAGCCCCCGCCATCATCTTTTATGGTATC
ATAGCAACGATTTATATCATCCCTGGTGACATAAACTCGTTAGTCAATTATTTCAGCTTT
GCTGCATGGCTGTTTTATGGCCTGACGATTCTAGGACTCATCGTGATGAGATTTACAAGG
AAAGAGCTGGAAAGGCCTATCAAGGTGCCCGTAGTCATTCCCGTCTTGATGACACTCATC
TCTGTGTTTTTGGTTCTGGCTCCAATCATCAGCAAGCCCACCTGGGAGTACCTCTACTGT
GTGCTGTTTATATTAAGCGGCCTTTTATTTTACTTCCTGTTTGTCCACTACAAGTTTGGA
TGGGCTCAGAAAATCTCAAAGCCGATTACCATGCACCTTCAGATGCTAATGGAAGTGGTC
CCACCGGAGGAAGACCCTGAGTAA
|
| Enzyme 16 GenBank Gene ID |
AF141289  |
| Enzyme 16 GeneCard ID |
SLC7A9  |
| Enzyme 16 GenAtlas ID |
SLC7A9  |
| Enzyme 16 HGNC ID |
HGNC:11067  |
| Enzyme 16 Chromosome Location |
19 |
| Enzyme 16 Locus |
19q13.1 |
| Enzyme 16 SNPs |
SNPJam Report  |
| Enzyme 16 General References |
- Feliubadalo L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernandez E, Estevez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacin M: Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nat Genet. 1999 Sep;23(1):52-7. [PubMed
]
- Pfeiffer R, Loffing J, Rossier G, Bauch C, Meier C, Eggermann T, Loffing-Cueni D, Kuhn LC, Verrey F: Luminal heterodimeric amino acid transporter defective in cystinuria. Mol Biol Cell. 1999 Dec;10(12):4135-47. [PubMed
]
- Mizoguchi K, Cha SH, Chairoungdua A, Kim DK, Shigeta Y, Matsuo H, Fukushima J, Awa Y, Akakura K, Goya T, Ito H, Endou H, Kanai Y: Human cystinuria-related transporter: localization and functional characterization. Kidney Int. 2001 May;59(5):1821-33. [PubMed
]
- Leclerc D, Boutros M, Suh D, Wu Q, Palacin M, Ellis JR, Goodyer P, Rozen R: SLC7A9 mutations in all three cystinuria subtypes. Kidney Int. 2002 Nov;62(5):1550-9. [PubMed
]
- Harnevik L, Fjellstedt E, Molbaek A, Denneberg T, Soderkvist P: Mutation analysis of SLC7A9 in cystinuria patients in Sweden. Genet Test. 2003 Spring;7(1):13-20. [PubMed
]
|
| Enzyme 16 Metabolite References |
Not Available |
|
Enzyme 17
[top]
|
| Enzyme 17 ID |
7215 |
| Enzyme 17 Name |
Sodium/nucleoside cotransporter 1 |
| Enzyme 17 Synonyms |
- Na(+/nucleoside cotransporter 1
- Sodium-coupled nucleoside transporter 1
- Concentrative nucleoside transporter 1
- CNT 1
- hCNT1
|
| Enzyme 17 Gene Name |
SLC28A1 |
| Enzyme 17 Protein Sequence |
>Sodium/nucleoside cotransporter 1
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFS
RWRNLQPALRARSFCREHMQLFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVL
TFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAAFLGLVLWLSLDTSQRPEQLV
SFAGICVFIALLFACSKHHCAVSWRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI
FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVT
MGTTATETLSVAGNIFVSQTEAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISF
GIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGVKLTYGDAQNLIEAASTGAAI
SVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE
DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGNRKQWISVRAEVLTTFALCG
FANFSSIGIMLGGLTSMVPQRKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDC
MSLLNTTLSSSSFEIYQCCREAFQSVNPEFSPEALDNCCRFYNHTICAQ
|
| Enzyme 17 Number of Residues |
649 |
| Enzyme 17 Molecular Weight |
71598 |
| Enzyme 17 Theoretical pI |
7.78 |
| Enzyme 17 GO Classification |
| Function |
- binding
- nucleobase, nucleoside, nucleotide and nucleic acid transporter activity
- nucleoside binding
- nucleoside transporter activity
- nucleoside:sodium symporter activity
- transporter activity
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
|
|
| Enzyme 17 General Function |
Nucleotide transport and metabolism |
| Enzyme 17 Specific Function |
Sodium-dependent and pyrimidine-selective. Exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). It also transports the antiviral pyrimidine nucleoside analogs 3'-azido-3'-deoxythymidine (AZT) and 2',3'-dideoxycytidine (ddC). It may be involved in the intestinal absorption and renal handling of pyrimidine nucleoside analogs used to treat acquired immunodeficiency syndrome (AIDS). It has the following selective inhibition:adenosine, thymidine, cytidine, uridine >> guanosine, inosine |
| Enzyme 17 Pathways |
Not Available |
| Enzyme 17 Reactions |
Not Available |
| Enzyme 17 Pfam Domain Function |
|
| Enzyme 17 Signals |
|
| Enzyme 17 Transmembrane Regions |
- 85-105
109-128
153-171
177-197
205-225
261-281
361-381
428-448
532-552
572-592
|
| Enzyme 17 Essentiality |
Not Available |
| Enzyme 17 GenBank ID Protein |
2072786  |
| Enzyme 17 UniProtKB/Swiss-Prot ID |
O00337  |
| Enzyme 17 UniProtKB/Swiss-Prot Entry Name |
S28A1_HUMAN  |
| Enzyme 17 PDB ID |
Not Available |
| Enzyme 17 Cellular Location |
Not Available |
| Enzyme 17 Gene Sequence |
>1950 bp
ATGGAGAACGACCCCTCGAGACGAAGAGAGTCCATCTCTCTCACACCTGTGGCCAAGGGT
CTGGAGAACATGGGGGCTGATTTCTTGGAAAGCCTGGAGGAAGGCCAGCTCCCTAGGAGT
GACTTGAGCCCCGCAGAGATCAGGAGCAGCTGGAGCGAGGCGGCGCCGAAGCCCTTCTCC
AGATGGAGGAACCTGCAGCCAGCCCTGAGAGCCAGAAGCTTCTGCAGGGAGCACATGCAG
CTGTTTCGATGGATCGGCACAGGCCTGCTCTGCACTGGGCTCTCTGCCTTCCTGCTGGTG
GCCTGCCTCCTGGATTTCCAGAGGGCCCTGGCTCTGTTTGTCCTCACCTGTGTGGTCCTC
ACCTTCCTGGGCCACCGCCTGCTGAAACGGCTTCTGGGGCCAAAGCTGAGGAGGTTTCTC
AAGCCTCAGGGCCATCCCCGCCTGCTGCTCTGGTTTAAGAGGGGTCTAGCTCTTGCTGCT
TTCCTGGGCCTGGTCCTGTGGCTGTCTCTGGACACCTCCCAGCGGCCTGAGCAACTGGTG
TCCTTCGCAGGAATCTGCGTGTTCATCGCTCTCCTCTTTGCCTGCTCAAAGCATCATTGC
GCAGTGTCCTGGAGGGCCGTGTCTTGGGGACTTGGACTGCAGTTTGTACTTGGACTCCTC
GTCATCAGAACAGAACCAGGATTCATTGCGTTCGAGTGGCTGGGCGAGCAGATCCGGATC
TTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGAT
GTCTTTGCCTTTCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTC
TACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGATTGCCTGGCTGATGCAAGTCACC
ATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGACC
GAGGCTCCATTACTGATCCGGCCCTACTTGGCAGACATGACACTCTCTGAAGTCCACGTT
GTCATGACCGGAGGTTACGCCACCATTGCTGGCAGCCTGCTGGGTGCCTACATCTCCTTT
GGGATCGATGCCACCTCGTTGATTGCAGCCTCTGTGATGGCTGCCCCTTGTGCCTTGGCC
CTCTCCAAGCTGGTCTACCCGGAGGTGGAGGAGTCCAAGTTTAGGAGGGAGGAAGGAGTG
AAACTGACCTATGGAGATGCTCAGAACCTCATAGAAGCAGCCAGCACTGGGGCCGCCATC
TCCGTGAAGGTGGTCGCCAACATCGCTGCCAACCTGATTGCGTTCCTGGCTGTGCTGGAC
TTTATCAATGCTGCCCTCTCCTGGCTGGGAGACATGGTGGACATCCAGGGGCTCAGCTTC
CAGCTCATCTGCTCCTACATCCTGCGGCCTGTAGCCTTCTTGATGGGTGTGGCGTGGGAG
GACTGCCCAGTGGTAGCTGAGCTGCTGGGGATCAAGCTGTTTCTGAACGAGTTTGTGGCC
TATCAAGACCTCTCCAAGTACAAGCAACGCCGCCTGGCAGGGGCCGAGGAGTGGGTCGGC
AACAGGAAGCAGTGGATCTCCGTCAGAGCTGAAGTCCTCACGACGTTTGCCCTCTGTGGA
TTTGCCAATTTCAGCTCCATTGGGATCATGCTGGGAGGCTTGACCTCCATGGTCCCCCAA
CGGAAGAGCGACTTCTCCCAGATAGTGCTCCGGGCGCTCTTCACGGGAGCCTGTGTGTCC
CTGGTGAACGCCTGTATGGCAGGGATCCTCTACATGCCCAGGGGGGCTGAAGTTGACTGC
ATGTCCCTCTTGAACACGACCCTCAGCAGCAGTAGCTTTGAGATTTACCAGTGCTGCCGT
GAGGCCTTCCAGAGCGTCAATCCAGAGTTCAGCCCAGAGGCCCTGGACAACTGCTGTCGG
TTTTACAACCACACGATCTGTGCACAGTGA
|
| Enzyme 17 GenBank Gene ID |
U62968  |
| Enzyme 17 GeneCard ID |
SLC28A1  |
| Enzyme 17 GenAtlas ID |
SLC28A1  |
| Enzyme 17 HGNC ID |
HGNC:11001  |
| Enzyme 17 Chromosome Location |
15 |
| Enzyme 17 Locus |
15q25-26 |
| Enzyme 17 SNPs |
SNPJam Report  |
| Enzyme 17 General References |
- Ritzel MW, Yao SY, Huang MY, Elliott JF, Cass CE, Young JD: Molecular cloning and functional expression of cDNAs encoding a human Na+-nucleoside cotransporter (hCNT1). Am J Physiol. 1997 Feb;272(2 Pt 1):C707-14. [PubMed
]
- Loewen SK, Ng AM, Yao SY, Cass CE, Baldwin SA, Young JD: Identification of amino acid residues responsible for the pyrimidine and purine nucleoside specificities of human concentrative Na(+) nucleoside cotransporters hCNT1 and hCNT2. J Biol Chem. 1999 Aug 27;274(35):24475-84. [PubMed
]
|
| Enzyme 17 Metabolite References |
Not Available |
|
Enzyme 18
[top]
|
| Enzyme 18 ID |
7373 |
| Enzyme 18 Name |
Neutral amino acid transporter B(0) |
| Enzyme 18 Synonyms |
- ATB(0
- Solute carrier family 1 member 5
- Sodium-dependent neutral amino acid transporter type 2
- RD114/simian type D retrovirus receptor
- Baboon M7 virus receptor
|
| Enzyme 18 Gene Name |
SLC1A5 |
| Enzyme 18 Protein Sequence |
>Neutral amino acid transporter B(0)
MVADPPRDSKGLAAAEPTANGGLALASIEDQGAAAGGYCGSRDQVRRCLRANLLVLLTVV
AVVAGVALGLGVSGAGGALALGPERLSAFVFPGELLLRLLRMIILPLVVCSLIGGAASLD
PGALGRLGAWALLFFLVTTLLASALGVGLALALQPGAASAAINASVGAAGSAENAPSKEV
LDSFLDLARNIFPSNLVSAAFRSYSTTYEERNITGTRVKVPVGQEVEGMNILGLVVFAIV
FGVALRKLGPEGELLIRFFNSFNEATMVLVSWIMWYAPVGIMFLVAGKIVEMEDVGLLFA
RLGKYILCCLLGHAIHGLLVLPLIYFLFTRKNPYRFLWGIVTPLATAFGTSSSSATLPLM
MKCVEENNGVAKHISRFILPIGATVNMDGAALFQCVAAVFIAQLSQQSLDFVKIITILVT
ATASSVGAAGIPAGGVLTLAIILEAVNLPVDHISLILAVDWLVDRSCTVLNVEGDALGAG
LLQNYVDRTESRSTEPELIQVKSELPLDPLPVPTEEGNPLLKHYRGPAGDATVASEKESV
M
|
| Enzyme 18 Number of Residues |
541 |
| Enzyme 18 Molecular Weight |
56599 |
| Enzyme 18 Theoretical pI |
5.14 |
| Enzyme 18 GO Classification |
| Function |
- carboxylic acid transporter activity
- dicarboxylic acid transporter activity
- organic acid transporter activity
- sodium:dicarboxylate symporter activity
- transporter activity
|
| Process |
- carboxylic acid transport
- cellular physiological process
- dicarboxylic acid transport
- organic acid transport
- physiological process
- transport
|
| Component |
|
|
| Enzyme 18 General Function |
Energy production and conversion |
| Enzyme 18 Specific Function |
Has a broad substrate specificity, a preference for zwitterionic amino acids, and a sodium-dependence. It accepts as substrates all neutral amino acids, including glutamine, asparagine, and branched-chain and aromatic amino acids, and excludes methylated amino acids, anionic amino acids, and cationic amino acids. Act as a cell surface receptor for feline endogenous virus RD114, baboon M7 endogenous virus and type D simian retroviruses |
| Enzyme 18 Pathways |
Not Available |
| Enzyme 18 Reactions |
Not Available |
| Enzyme 18 Pfam Domain Function |
|
| Enzyme 18 Signals |
|
| Enzyme 18 Transmembrane Regions |
- 53-73
99-119
133-153
225-245
266-286
306-326
336-356
377-397
399-419
426-446
|
| Enzyme 18 Essentiality |
Not Available |
| Enzyme 18 GenBank ID Protein |
1478281  |
| Enzyme 18 UniProtKB/Swiss-Prot ID |
Q15758  |
| Enzyme 18 UniProtKB/Swiss-Prot Entry Name |
AAAT_HUMAN  |
| Enzyme 18 PDB ID |
Not Available |
| Enzyme 18 Cellular Location |
Not Available |
| Enzyme 18 Gene Sequence |
>1626 bp
ATGGTGGCCGATCCTCCTCGAGACTCCAAGGGGCTCGCAGCGGCGGAGCCACCGCCAACG
GGGGCCTGGCAGCTGGCCTCCATCGAGGACCAAGGCGCGGCAGCAGGCGGCTACTGCGGT
TCCCGGGACCTGGTGCGCCGCTGCCTTCGAGCCAACCTGCTTGTGCTGCTGACAGTGGTG
GCCGTGGTGGCCGGCGTGGCGCTGGGACTGGGGGTGTCGGGGGCCGGGGGTGCGCTGGCG
TTGGGCCCGGGAGCGCTTGAGGCCTTCGTCTTCCCGGGCGAGCTGCTGCTGCGTCTGCTG
CGGATGATCATCTTGCCGCTGGTGGTGTGCAGCTTGATCGGCGGCGCCGCCAGCCTGGAC
CCCGGCGCGCTCGGCCGTCTGGGCGCCTGGGCGCTGCTCTTTTTCCTGGTCACCACGCTG
CTGGCGTCGGCGCTCGGAGTGGGCTTGGCGCTGGCTCTGCAGCCGGGCGCCGCCTCCGCC
GCCATCAACGCCTCCGTGGGAGCCGCGGGCAGTGCCGAAAATGCCCCCAGCAAGGAGGTG
CTCGATTCGTTCCTGGATCTTGCGAGAAATATCTTCCCTTCCAACCTGGTGTCAGCAGCC
TTTCGCTCATACTCTACCACCTATGAAGAGAGGAATATCACCGGAACCAGGGTGAAGGTG
CCCGTGGGGCAGGAGGTGGAGGGGATGAACATCCTGGGCTTGGTAGTGTTTGCCATCGTC
TTTGGTGTGGCGCTGCGGAAGCTGGGGCCTGAAGGGGAGCTGCTTATCCGCTTCTTCAAC
TCCTTCAATGAGGCCACCATGGTTCTGGTCTCCTGGATCATGTGGTACGCCCCTGTGGGC
ATCATGTTCCTGGTGGCTGGCAAGATCGTGGAGATGGAGGATGTGGGTTTACTCTTTGCC
CGCCTTGGCAAGTACATTCTGTGCTGCCTGCTGGGTCACGCCATCCATGGGCTCCTGGTA
CTGCCCCTCATCTACTTCCTCTTCACCCGCAAAAACCCCTACCGCTTCCTGTGGGGCATC
GTGACGCCGCTGGCCACTGCCTTTGGGACCTCTTCCAGTTCCGCCACGCTGCCGCTGATG
ATGAAGTGCGTGGAGGAGAATAATGGCGTGGCCAAGCACATCAGCCGTTTCATCCTGCCC
ATCGGCGCCACCGTCAACATGGACGGTGCCGCGCTCTTCCAGTGCGTGGCCGCAGTGTTC
ATTGCACAGCTCAGCCAGCAGTCCTTGGACTTCGTAAAGATCATCACCATCCTGGTCACG
GCCACAGCGTCCAGCGTGGGGGCAGCGGGCATCCCTGCTGGAGGTGTCCTCACTCTGGCC
ATCATCCTCGAAGCAGTCAACCTCCCGGTCGACCATATCTCCTTGATCCTGGCTGTGGAC
TGGCTAGTCGACCGGTCCTGTACCGTCCTCAATGTAGAAGGTGACGCTCTGGGGGCAGGA
CTCCTCCAAAATTATGTGGACCGTACGGAGTCGAGAAGCACAGAGCCTGAGTTGATACAA
GTGAAGAGTGAGCTGCCCCTGGATCCGCTGCCAGTCCCCACTGAGGAAGGAAACCCCCTC
CTCAAACACTATCGGGGGCCCGCAGGGGATGCCACGGTCGCCTCTGAGAAGGAATCAGTC
ATGTAA
|
| Enzyme 18 GenBank Gene ID |
U53347  |
| Enzyme 18 GeneCard ID |
SLC1A5  |
| Enzyme 18 GenAtlas ID |
SLC1A5  |
| Enzyme 18 HGNC ID |
HGNC:10943  |
| Enzyme 18 Chromosome Location |
19 |
| Enzyme 18 Locus |
19q13.3 |
| Enzyme 18 SNPs |
SNPJam Report  |
| Enzyme 18 General References |
- Kekuda R, Prasad PD, Fei YJ, Torres-Zamorano V, Sinha S, Yang-Feng TL, Leibach FH, Ganapathy V: Cloning of the sodium-dependent, broad-scope, neutral amino acid transporter Bo from a human placental choriocarcinoma cell line. J Biol Chem. 1996 Aug 2;271(31):18657-61. [PubMed
]
- Rasko JE, Battini JL, Gottschalk RJ, Mazo I, Miller AD: The RD114/simian type D retrovirus receptor is a neutral amino acid transporter. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2129-34. [PubMed
]
- Tailor CS, Nouri A, Zhao Y, Takeuchi Y, Kabat D: A sodium-dependent neutral-amino-acid transporter mediates infections of feline and baboon endogenous retroviruses and simian type D retroviruses. J Virol. 1999 May;73(5):4470-4. [PubMed
]
- Tailor CS, Marin M, Nouri A, Kavanaugh MP, Kabat D: Truncated forms of the dual function human ASCT2 neutral amino acid transporter/retroviral receptor are translationally initiated at multiple alternative CUG and GUG codons. J Biol Chem. 2001 Jul 20;276(29):27221-30. Epub 2001 May 11. [PubMed
]
|
| Enzyme 18 Metabolite References |
Not Available |
|
Enzyme 19
[top]
|
| Enzyme 19 ID |
7412 |
| Enzyme 19 Name |
Tenascin-R precursor |
| Enzyme 19 Synonyms |
- TN-R
- Restrictin
- Janusin
|
| Enzyme 19 Gene Name |
TNR |
| Enzyme 19 Protein Sequence |
>Tenascin-R precursor
MGADGETVVLKNMLIGVNLILLGSMIKPSECQLEVTTERVQRQSVEEEGGIANYNTSSKE
QPVVFNHVYNINVPLDNLCSSGLEASAEQEVSAEDETLAEYMGQTSDHESQVTFTHRINF
PKKACPCASSAQVLQELLSRIEMLEREVSVLRDQCNANCCQESAATGQLDYIPHCSGHGN
FSFESCGCICNEGWFGKNCSEPYCPLGCSSRGVCVDGQCICDSEYSGDDCSELRCPTDCS
SRGLCVDGECVCEEPYTGEDCRELRCPGDCSGKGRCANGTCLCEEGYVGEDCGQRQCLNA
CSGRGQCEEGLCVCEEGYQGPDCSAVAPPEDLRVAGISDRSIELEWDGPMAVTEYVISYQ
PTALGGLQLQQRVPGDWSGVTITELEPGLTYNISVYAVISNILSLPITAKVATHLSTPQG
LQFKTITETTVEVQWEPFSFSFDGWEISFIPKNNEGGVIAQVPSDVTSFNQTGLKPGEEY
IVNVVALKEQARSPPTSASVSTVIDGPTQILVRDVSDTVAFVEWIPPRAKVDFILLKYGL
VGGEGGRTTFRLQPPLSQYSVQALRPGSRYEVSVSAVRGTNESDSATTQFTTEIDAPKNL
RVGSRTATSLDLEWDNSEAEVQEYKVVYSTLAGEQYHEVLVPRGIGPTTRATLTDLVPGT
EYGVGISAVMNSQQSVPATMNARTELDSPRDLMVTASSETSISLIWTKASGPIDHYRITF
TPSSGIASEVTVPKDRTSYTLTDLEPGAEYIISVTAERGRQQSLESTVDAFTGFRPISHL
HFSHVTSSSVNITWSDPSPPADRLILNYSPRDEEEEMMEVSLDATKRHAVLMGLQPATEY
IVNLVAVHGTVTSEPIVGSITTGIDPPKDITISNVTKDSVMVSWSPPVASFDYYRVSYRP
TQVGRLDSSVVPNTVTEFTITRLNPATEYEISLNSVRGREESERICTLVHTAMDNPVDLI
ATNITPTEALLQWKAPVGEVENYVIVLTHFAVAGETILVDGVSEEFRLVDLLPSTHYTAT
MYATNGPLTSGTISTNFSTLLDPPANLTASEVTRQSALISWQPPRAEIENYVLTYKSTDG
SRKELIVDAEDTWIRLEGLLENTDYTVLLQAAQDTTWSSITSTAFTTGGRVFPHPQDCAQ
HLMNGDTLSGVYPIFLNGELSQKLQVYCDMTTDGGGWIVFQRRQNGQTDFFRKWADYRVG
FGNVEDEFWLGLDNIHRITSQGRYELRVDMRDGQEAAFASYDRFSVEDSRNLYKLRIGSY
NGTAGDSLSYHQGRPFSTEDRDNDVAVTNCAMSYKGAWWYKNCHRTNLNGKYGESRHSQG
INWYHWKGHEFSIPFVEMKMRPYNHRLMAGRKRQSLQF
|
| Enzyme 19 Number of Residues |
1358 |
| Enzyme 19 Molecular Weight |
149549 |
| Enzyme 19 Theoretical pI |
4.44 |
| Enzyme 19 GO Classification |
Not Available |
| Enzyme 19 General Function |
Not Available |
| Enzyme 19 Specific Function |
Neural extracellular matrix (ECM) protein involved in interactions with different cells and matrix components. These interactions can influence cellular behavior by either evoking a stable adhesion and differentiation, or repulsion and inhibition of neurite growth. Binding to cell surface gangliosides inhibits RGD-dependent integrin-mediated cell adhesion and results in an inhibition of PTK2 (FAK) phosphorylation and cell detachment. Binding to membrane surface sulfatides results in a oligodendrocyte adhesion and differentiation. Interaction with CNTN1 induces a repulsion of neurons and an inhibition of neurite outgrowth. Interacts with SCN2B may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier. TNR-linked chondroitin sulfate glycosaminoglycans are involved in the interaction with FN1 and mediate inhibition of cell adhesion and neurite outgrowth. The highly regulated addition of sulfated carbohydrate structure may modulate the adhesive properties of TNR over the course of development and during synapse maintenance |
| Enzyme 19 Pathways |
Not Available |
| Enzyme 19 Reactions |
Not Available |
| Enzyme 19 Pfam Domain Function |
|
| Enzyme 19 Signals |
|
| Enzyme 19 Transmembrane Regions |
Not Available |
| Enzyme 19 Essentiality |
Not Available |
| Enzyme 19 GenBank ID Protein |
4379056  |
| Enzyme 19 UniProtKB/Swiss-Prot ID |
Q92752  |
| Enzyme 19 UniProtKB/Swiss-Prot Entry Name |
TENR_HUMAN  |
| Enzyme 19 PDB ID |
Not Available |
| Enzyme 19 Cellular Location |
Not Available |
| Enzyme 19 Gene Sequence |
>4077 bp
ATGGGGGCAGATGGGGAAACAGTGGTTCTGAAGAACATGCTCATTGGCGTCAACCTGATC
CTTCTGGGCTCCATGATCAAGCCTTCAGAGTGTCAGCTGGAGGTCACCACAGAAAGGGTC
CAGAGACAGTCAGTGGAGGAGGAGGGAGGCATTGCCAACTACAACACGTCCAGCAAAGAG
CAGCCTGTGGTCTTCAACCACGTGTACAACATTAACGTGCCCTTGGACAACCTCTGCTCC
TCAGGGCTAGAGGCCTCTGCTGAGCAGGAGGTGAGTGCAGAAGACGAGACTCTGGCAGAG
TACATGGGCCAGACCTCAGACCACGAGAGCCAGGTCACCTTTACACACAGGATCAACTTC
CCCAAAAAGGCCTGTCCATGTGCCAGTTCAGCCCAGGTGCTGCAGGAGCTGCTGAGCCGG
ATCGAGATGCTGGAGAGGGAGGTGTCGGTGCTGCGAGACCAGTGCAACGCCAACTGCTGC
CAAGAAAGTGCTGCCACAGGACAACTGGACTATATCCCTCACTGCAGTGGCCACGGCAAC
TTTAGCTTTGAGTCCTGTGGCTGCATCTGCAACGAAGGCTGGTTTGGCAAGAATTGCTCG
GAGCCCTACTGCCCGCTGGGTTGCTCCAGCCGGGGGGTGTGTGTGGATGGCCAGTGCATC
TGTGACAGCGAATACAGCGGGGATGACTGTTCCGAACTCCGGTGCCCAACAGACTGCAGC
TCCCGGGGGCTCTGCGTGGACGGGGAGTGTGTCTGTGAAGAGCCCTACACTGGCGAGGAC
TGCAGGGAACTGAGGTGCCCTGGGGACTGTTCGGGGAAGGGGAGATGTGCCAACGGTACC
TGTTTATGCGAGGAGGGCTACGTTGGTGAGGACTGCGGCCAGCGGCAGTGTCTGAATGCC
TGCAGTGGGCGAGGACAATGTGAGGAGGGGCTCTGCGTCTGTGAAGAGGGCTACCAGGGC
CCTGACTGCTCAGCAGTTGCCCCTCCAGAGGACTTGCGAGTGGCTGGTATCAGCGACAGG
TCCATTGAGCTGGAATGGGACGGGCCGATGGCAGTGACGGAATATGTGATCTCTTACCAG
CCGACGGCCCTGGGGGGCCTCCAGCTCCAGCAGCGGGTGCCTGGAGATTGGAGTGGTGTC
ACCATCACGGAGCTGGAGCCAGGTCTCACCTACAACATCAGCGTCTACGCTGTCATTAGC
AACATCCTCAGCCTTCCCATCACTGCCAAGGTGGCCACCCATCTCTCCACTCCTCAAGGG
CTACAATTTAAGACGATCACAGAGACCACCGTGGAGGTGCAGTGGGAGCCCTTCTCATTT
TCCTTCGATGGGTGGGAAATCAGCTTCATTCCAAAGAACAATGAAGGGGGAGTGATTGCT
CAGGTCCCCAGCGATGTTACGTCCTTTAACCAGACAGGACTAAAGCCTGGGGAGGAATAC
ATTGTCAATGTGGTGGCTCTGAAAGAACAGGCCCGCAGCCCCCCTACCTCGGCCAGCGTC
TCCACAGTCATTGACGGCCCCACGCAGATCCTGGTTCGCGATGTCTCGGACACCGTGGCT
TTTGTGGAGTGGATTCCCCCTCGAGCCAAAGTCGATTTCATTCTTTTGAAATATGGCCTG
GTGGGCGGGGAAGGTGGGAGGACCACCTTCCGGCTGCAGCCTCCCCTGAGCCAATACTCA
GTGCAGGCCCTGCGGCCTGGCTCCCGATACGAGGTGTCAGTCAGTGCCGTCCGAGGGACC
AACGAGAGCGATTCTGCCACCACTCAGTTCACAACAGAGATCGATGCCCCCAAGAACTTG
CGAGTTGGTTCTCGCACAGCAACCAGCCTTGACCTCGAGTGGGATAACAGTGAAGCCGAA
GTTCAGGAGTACAAGGTTGTGTACAGCACCCTGGCGGGTGAGCAATATCATGAGGTACTG
GTCCCCAGGGGCATTGGTCCAACCACCAGGGCCACCCTGACAGATCTGGTACCTGGCACT
GAGTATGGAGTTGGAATATCTGCCGTCATGAACTCACAGCAAAGCGTGCCAGCCACCATG
AATGCCAGGACTGAACTTGACAGTCCCCGAGACCTCATGGTGACAGCCTCCTCGGAGACC
TCCATCTCCCTCATCTGGACCAAGGCCAGTGGCCCCATTGACCACTACCGAATTACCTTT
ACCCCATCCTCTGGGATTGCCTCAGAAGTCACCGTACCCAAGGACAGGACCTCATACACA
CTAACAGATCTAGAGCCTGGGGCAGAGTACATCATTTCCGTCACTGCTGAGAGGGGTCGG
CAGCAGAGCTTGGAGTCCACTGTGGATGCTTTCACAGGCTTCCGTCCCATCTCTCATCTG
CACTTTTCTCATGTGACCTCCTCCAGTGTGAACATCACTTGGAGTGATCCATCTCCCCCA
GCAGACAGACTCATTCTTAACTACAGCCCCAGGGATGAGGAGGAAGAGATGATGGAGGTC
TCCCTGGATGCCACCAAGAGGCATGCTGTCCTGATGGGCCTGCAACCAGCCACAGAGTAT
ATTGTGAACCTTGTGGCTGTCCATGGCACAGTGACCTCTGAGCCCATTGTGGGCTCCATC
ACCACAGGAATTGATCCCCCAAAAGACATCACAATTAGCAATGTGACCAAGGACTCAGTG
ATGGTCTCCTGGAGCCCTCCTGTTGCATCTTTCGATTACTACCGAGTATCATATCGACCC
ACCCAAGTGGGACGACTAGACAGCTCAGTGGTGCCCAACACTGTGACAGAATTCACCATC
ACCAGACTGAACCCAGCTACCGAATACGAAATCAGCCTCAACAGCGTGCGGGGCAGGGAG
GAAAGCGAGCGCATCTGTACTCTTGTGCACACAGCCATGGACAACCCTGTGGATCTGATT
GCTACCAATATCACTCCAACAGAAGCCCTGCTGCAGTGGAAGGCACCAGTGGGTGAGGTG
GAGAACTACGTCATTGTTCTTACACACTTTGCAGTCGCTGGAGAGACCATCCTTGTTGAC
GGAGTCAGTGAGGAATTTCGGCTTGTTGACCTGCTTCCTAGCACCCACTATACTGCCACC
ATGTATGCCACCAATGGACCTCTCACCAGTGGCACCATCAGCACCAACTTTTCTACTCTC
CTGGACCCTCCGGCAAACCTGACAGCCAGTGAAGTCACCAGACAAAGTGCCCTGATCTCC
TGGCAGCCTCCCAGGGCAGAGATTGAAAATTATGTCTTGACCTACAAATCCACCGACGGA
AGCCGCAAGGAGCTGATTGTGGATGCAGAAGACACCTGGATTCGACTGGAGGGCCTGTTG
GAGAACACAGACTACACGGTGCTCCTGCAGGCAGCACAGGACACCACGTGGAGCAGCATC
ACCTCCACCGCTTTCACCACAGGAGGCCGGGTGTTCCCTCATCCCCAAGACTGTGCCCAG
CATTTGATGAATGGAGACACTTTGAGTGGGGTTTACCCCATCTTCCTCAATGGGGAGCTG
AGCCAGAAATTACAAGTGTACTGTGATATGACCACCGACGGGGGCGGCTGGATTGTATTC
CAGAGGCGGCAGAATGGCCAAACTGATTTTTTCCGGAAATGGGCTGATTACCGTGTTGGC
TTCGGGAACGTGGAGGATGAGTTCTGGCTGGGGCTGGACAATATACACAGGATCACATCC
CAGGGCCGCTATGAGCTGCGCGTGGACATGCGGGATGGCCAGGAGGCCGCCTTCGCCTCC
TACGACAGGTTCTCTGTCGAGGACAGCAGAAACCTGTACAAACTCCGCATAGGAAGCTAC
AACGGCACTGCGGGGGACTCCCTCAGCTATCATCAAGGACGCCCTTTCTCCACAGAGGAT
AGAGACAATGATGTTGCAGTGACTAACTGTGCCATGTCGTACAAGGGAGCATGGTGGTAT
AAGAACTGCCACCGGACCAACCTCAATGGGAAGTACGGGGAGTCCAGGCACAGTCAGGGC
ATCAACTGGTACCATTGGAAAGGCCATGAGTTCTCCATCCCCTTTGTGGAAATGAAGATG
CGCCCCTACAACCACCGTCTCATGGCAGGGAGAAAACGGCAGTCCTTACAGTTCTGA
|
| Enzyme 19 GenBank Gene ID |
Z67996  |
| Enzyme 19 GeneCard ID |
TNR  |
| Enzyme 19 GenAtlas ID |
TNR  |
| Enzyme 19 HGNC ID |
HGNC:11953  |
| Enzyme 19 Chromosome Location |
1 |
| Enzyme 19 Locus |
1q24 |
| Enzyme 19 SNPs |
SNPJam Report  |
| Enzyme 19 General References |
- Carnemolla B, Leprini A, Borsi L, Querze G, Urbini S, Zardi L: Human tenascin-R. Complete primary structure, pre-mRNA alternative splicing and gene localization on chromosome 1q23-q24. J Biol Chem. 1996 Apr 5;271(14):8157-60. [PubMed
]
|
| Enzyme 19 Metabolite References |
Not Available |
|
Enzyme 20
[top]
|
| Enzyme 20 ID |
7437 |
| Enzyme 20 Name |
Transient receptor potential cation channel subfamily M member 2 |
| Enzyme 20 Synonyms |
- Long transient receptor potential channel 2
- LTrpC2
- LTrpC-2
- Transient receptor potential channel 7
- TrpC7
- Estrogen- responsive element-associated gene 1 protein
|
| Enzyme 20 Gene Name |
TRPM2 |
| Enzyme 20 Protein Sequence |
>Transient receptor potential cation channel subfamily M member 2
MEPSALRKAGSEQEEGFEGLPRRVTDLGMVSNLRRSNSSLFKSWRLQCPFGNNDKQESLS
SWIPENIKKKECVYFVESSKLSDAGKVVCQCGYTHEQHLEEATKPHTFQGTQWDPKKHVQ
EMPTDAFGDIVFTGLSQKVKKYVRVSQDTPSSVIYHLMTQHWGLDVPNLLISVTGGAKNF
NMKPRLKSIFRRGLVKVAQTTGAWIITGGSHTGVMKQVGEAVRDFSLSSSYKEGELITIG
VATWGTVHRREGLIHPTGSFPAEYILDEDGQGNLTCLDSNHSHFILVDDGTHGQYGVEIP
LRTRLEKFISEQTKERGGVAIKIPIVCVVLEGGPGTLHTIDNATTNGTPCVVVEGSGRVA
DVIAQVANLPVSDITISLIQQKLSVFFQEMFETFTESRIVEWTKKIQDIVRRRQLLTVFR
EGKDGQQDVDVAILQALLKASRSQDHFGHENWDHQLKLAVAWNRVDIARSEIFMDEWQWK
PSDLHPTMTAALISNKPEFVKLFLENGVQLKEFVTWDTLLYLYENLDPSCLFHSKLQKVL
VEDPERPACAPAAPRLQMHHVAQVLRELLGDFTQPLYPRPRHNDRLRLLLPVPHVKLNVQ
GVSLRSLYKRSSGHVTFTMDPIRDLLIWAIVQNRRELAGIIWAQSQDCIAAALACSKILK
ELSKEEEDTDSSEEMLALAEEYEHRAIGVFTECYRKDEERAQKLLTRVSEAWGKTTCLQL
ALEAKDMKFVSHGGIQAFLTKVWWGQLSVDNGLWRVTLCMLAFPLLLTGLISFREKRLQD
VGTPAARARAFFTAPVVVFHLNILSYFAFLCLFAYVLMVDFQPVPSWCECAIYLWLFSLV
CEEMRQLFYDPDECGLMKKAALYFSDFWNKLDVGAILLFVAGLTCRLIPATLYPGRVILS
LDFILFCLRLMHIFTISKTLGPKIIIVKRMMKDVFFFLFLLAVWVVSFGVAKQAILIHNE
RRVDWLFRGAVYHSYLTIFGQIPGYIDGVNFNPEHCSPNGTDPYKPKCPESDATQQRPAF
PEWLTVLLLCLYLLFTNILLLNLLIAMFNYTFQQVQEHTDQIWKFQRHDLIEEYHGRPAA
PPPFILLSHLQLFIKRVVLKTPAKRHKQLKNKLEKNEEAALLSWEIYLKENYLQNRQFQQ
KQRPEQKIEDISNKVDAMVDLLDLDPLKRSGSMEQRLASLEEQVAQTARALHWIVRTLRA
SGFSSEADVPTLASQKAAEEPDAEPGGRKKTEEPGDSYHVNARHLLYPNCPVTRFPVPNE
KVPWETEFLIYDPPFYTAERKDAAAMDPMGDTLEPLSTIQYNVVDGLRDRRSFHGPYTVQ
AGLPLNPMGRTGLRGRGSLSCFGPNHTLYPMVTRWRRNEDGAICRKSIKKMLEVLVVKLP
LSEHWALPGGSREPGEMLPRKLKRILRQEHWPSFENLLKCGMEVYKGYMDDPRNTDNAWI
ETVAVSVHFQDQNDVELNRLNSNLHACDSGASIRWQVVDRRIPLYANHKTLLQKAAAEFG
AHY
|
| Enzyme 20 Number of Residues |
1503 |
| Enzyme 20 Molecular Weight |
171228 |
| Enzyme 20 Theoretical pI |
7.59 |
| Enzyme 20 GO Classification |
| Function |
- ion channel activity
- ion transporter activity
- transporter activity
|
| Process |
- cellular physiological process
- ion transport
- physiological process
- transport
|
| Component |
|
|
| Enzyme 20 General Function |
Not Available |
| Enzyme 20 Specific Function |
Nonselective, voltage-independent cation channel mediating sodium and calcium ion influx in response to oxidative stress. Extracellular calcium passes through the channel and acts from the intracellular side as a positive regulator in channel activation. Activated by ADP-ribose, nicotinamide adenine dinucleotide (NAD(+)), reactive nitrogen species and arachidonic acid. Inactivated by intracellular ATP. Confers susceptibility to cell death following oxidative stress. Isoform 2 does not seem to be regulated by ADPR. Has ADP-ribose pyrophosphatase activity |
| Enzyme 20 Pathways |
|
| Enzyme 20 Reactions |
- ADP-ribose + H2O = AMP + D-ribose 5-phosphate
|
| Enzyme 20 Pfam Domain Function |
|
| Enzyme 20 Signals |
|
| Enzyme 20 Transmembrane Regions |
- 753-773
796-816
873-893
897-917
937-957
1026-1046
|
| Enzyme 20 Essentiality |
Not Available |
| Enzyme 20 GenBank ID Protein |
3928756  |
| Enzyme 20 UniProtKB/Swiss-Prot ID |
O94759  |
| Enzyme 20 UniProtKB/Swiss-Prot Entry Name |
TRPM2_HUMAN  |
| Enzyme 20 PDB ID |
Not Available |
| Enzyme 20 Cellular Location |
Not Available |
| Enzyme 20 Gene Sequence |
>4512 bp
ATGGAGCCCTCAGCCCTGAGGAAAGCTGGCTCGGAGCAGGAGGAGGGCTTTGAGGGGCTG
CCCAGAAGGGTCACTGACCTGGGGATGGTCTCCAATCTCCGGCGCAGCAACAGCAGCCTC
TTCAAGAGCTGGAGGCTACAGTGCCCCTTCGGCAACAATGACAAGCAAGAAAGCCTCAGT
TCGTGGATTCCTGAAAACATCAAGAAGAAAGAATGCGTGTATTTTGTGGAAAGTTCCAAA
CTGTCTGATGCTGGGAAGGTGGTGTGTCAGTGTGGCTACACGCATGAGCAGCACTTGGAG
GAGGCTACCAAGCCCCACACCTTCCAGGGCACACAGTGGGACCCAAAGAAACATGTCCAG
GAGATGCCAACCGATGCCTTTGGCGACATCGTCTTCACGGGCCTGAGCCAGAAGGTGAAA
AAGTACGTCCGAGTCTCCCAGGACACGCCCTCCAGCGTGATCTACCACCTCATGACCCAG
CACTGGGGGCTGGACGTCCCCAATCTCTTGATCTCGGTGACCGGGGGGGCCAAGAACTTC
AACATGAAGCCGCGGCTGAAGAGCATTTTCCGCAGAGGCCTGGTCAAGGTGGCTCAGACC
ACAGGGGCCTGGATCATCACAGGGGGGTCCCACACCGGCGTCATGAAGCAGGTAGGCGAG
GCGGTGCGGGACTTCAGCCTGAGCAGCAGCTACAAGGAAGGCGAGCTCATCACCATCGGA
GTCGCCACCTGGGGCACTGTCCACCGCCGCGAGGGCCTGATCCATCCCACGGGCAGCTTC
CCCGCCGAGTACATACTGGATGAGGATGGCCAAGGGAACCTGACCTGCCTAGACAGCAAC
CACTCTCACTTCATCCTCGTGGACGACGGGACCCACGGCCAGTACGGGGTGGAGATTCCT
CTGAGGACCAGGCTGGAGAAGTTCATATCGGAGCAGACCAAGGAAAGAGGAGGTGTGGCC
ATCAAGATCCCCATCGTGTGCGTGGTGCTGGAGGGCGGCCCGGGCACGTTGCACACCATC
GACAACGCCACCACCAACGGCACCCCCTGTGTGGTTGTGGAGGGCTCGGGCCGCGTGGCC
GACGTCATTGCCCAGGTGGCCAACCTGCCTGTCTCGGACATCACTATCTCCCTGATCCAG
CAGAAACTGAGCGTGTTCTTCCAGGAGATGTTTGAGACCTTCACGGAAAGCAGGATTGTC
GAGTGGACCAAAAAGATCCAAGATATTGTCCGGAGGCGGCAGCTGCTGACTGTCTTCCGG
GAAGGCAAGGATGGTCAGCAGGACGTGGATGTGGCCATCTTGCAGGCCTTGCTGAAAGCC
TCACGGAGCCAAGACCACTTTGGCCACGAGAACTGGGACCACCAGCTGAAACTGGCAGTG
GCATGGAATCGCGTGGACATTGCCCGCAGTGAGATCTTCATGGATGAGTGGCAGTGGAAG
CCTTCAGATCTGCACCCCACGATGACAGCTGCACTCATCTCCAACAAGCCTGAGTTTGTG
AAGCTCTTCCTGGAAAACGGGGTGCAGCTGAAGGAGTTTGTCACCTGGGACACCTTGCTC
TACCTGTACGAGAACCTGGACCCCTCCTGCCTGTTCCACAGCAAGCTGCAAAAGGTGCTG
GTGGAGGATCCCGAGCGCCCGGCTTGCGCGCCCGCGGCGCCCCGCCTGCAGATGCACCAC
GTGGCCCAGGTGCTGCGGGAGCTGCTGGGGGACTTCACGCAGCCGCTTTATCCCCGGCCC
CGGCACAACGACCGGCTGCGGCTCCTGCTGCCCGTTCCCCACGTCAAGCTCAACGTGCAG
GGAGTGAGCCTCCGGTCCCTCTACAAGCGTTCCTCAGGCCATGTGACCTTCACCATGGAC
CCCATCCGTGACCTTCTCATTTGGGCCATTGTCCAGAACCGTCGGGAGCTGGCAGGAATC
ATCTGGGCTCAGAGCCAGGACTGCATCGCAGCGGCCTTGGCCTGCAGCAAGATCCTGAAG
GAACTGTCCAAGGAGGAGGAGGACACGGACAGCTCGGAGGAGATGCTGGCGCTGGCGGAG
GAGTATGAGCACAGAGCCATCGGGGTCTTCACCGAGTGCTACCGGAAGGACGAAGAGAGA
GCCCAGAAACTGCTCACCCGCGTGTCCGAGGCCTGGGGGAAGACCACCTGCCTGCAGCTC
GCCCTGGAGGCCAAGGACATGAAGTTTGTGTCTCACGGGGGCATCCAGGCCTTCCTGACC
AAGGTGTGGTGGGGCCAGCTCTCCGTGGACAATGGGCTGTGGCGTGTGACCCTGTGCATG
CTGGCCTTCCCGCTGCTCCTCACCGGCCTCATCTCCTTCAGGGAGAAGAGGCTGCAGGAT
GTGGGCACCCCCGCGGCCCGCGCCCGTGCCTTCTTCACCGCACCCGTGGTGGTCTTCCAC
CTGAACATCCTCTCCTACTTCGCCTTCCTCTGCCTGTTCGCCTACGTGCTCATGGTGGAC
TTCCAGCCTGTGCCCTCCTGGTGCGAGTGTGCCATCTACCTCTGGCTCTTCTCCTTGGTG
TGCGAGGAGATGCGGCAGCTCTTCTATGACCCTGACGAGTGCGGGCTGATGAAGAAGGCA
GCCTTGTACTTCAGTGACTTCTGGAATAAGCTGGACGTCGGCGCAATCTTGCTCTTCGTG
GCAGGGCTGACCTGCAGGCTCATCCCGGCGACGCTGTACCCCGGGCGCGTCATCCTCTCT
CTGGACTTCATCCTGTTCTGCCTCCGGCTCATGCACATTTTTACCATCAGTAAGACGCTG
GGGCCCAAGATCATCATTGTGAAGCGGATGATGAAGGACGTCTTCTTCTTCCTCTTCCTG
CTGGCTGTGTGGGTGGTGTCCTTCGGGGTGGCCAAGCAGGCCATCCTCATCCACAACGAG
CGCCGGGTGGACTGGCTGTTCCGAGGGGCCGTCTACCACTCCTACCTCACCATCTTCGGG
CAGATCCCGGGCTACATCGACGGTGTGAACTTCAACCCGGAGCACTGCAGCCCCAATGGC
ACCGACCCCTACAAGCCTAAGTGCCCCGAGAGCGACGCGACGCAGCAGAGGCCGGCCTTC
CCTGAGTGGCTGACGGTCCTCCTACTCTGCCTCTACCTGCTCTTCACCAACATCCTGCTG
CTCAACCTCCTCATCGCCATGTTCAACTACACCTTCCAGCAGGTGCAGGAGCACACGGAC
CAGATTTGGAAGTTCCAGCGCCATGACCTGATCGAGGAGTACCACGGCCGCCCCGCCGCG
CCGCCCCCCTTCATCCTCCTCAGCCACCTGCAGCTCTTCATCAAGAGGGTGGTCCTGAAG
ACTCCGGCCAAGAGGCACAAGCAGCTCAAGAACAAGCTGGAGAAGAACGAGGAGGCGGCC
CTGCTATCCTGGGAGATCTACCTGAAGGAGAACTACCTCCAGAACCGACAGTTCCAGCAA
AAGCAGCGGCCCGAGCAGAAGATCGAGGACATCAGCAATAAGGTTGACGCCATGGTGGAC
CTGCTGGACCTGGACCCACTGAAGAGGTCGGGCTCCATGGAGCAGAGGTTGGCCTCCCTG
GAGGAGCAGGTGGCCCAGACAGCCCGAGCCCTGCACTGGATCGTGAGGACGCTGCGGGCC
AGCGGCTTCAGCTCGGAGGCGGACGTCCCCACTCTGGCCTCCCAGAAGGCCGCGGAGGAG
CCGGATGCTGAGCCGGGAGGCAGGAAGAAGACGGAGGAGCCGGGCGACAGCTACCACGTG
AATGCCCGGCACCTCCTCTACCCCAACTGCCCTGTCACGCGCTTCCCCGTGCCCAACGAG
AAGGTGCCCTGGGAGACGGAGTTCCTGATCTATGACCCACCCTTTTACACGGCAGAGAGG
AAGGACGCGGCCGCCATGGACCCCATGGGAGACACCCTGGAGCCACTGTCCACGATCCAG
TACAACGTGGTGGATGGCCTGAGGGACCGCCGGAGCTTCCACGGGCCGTACACAGTGCAG
GCCGGGTTGCCCCTGAACCCCATGGGCCGCACAGGACTGCGTGGGCGCGGGAGCCTCAGC
TGCTTCGGACCCAACCACACGCTGTACCCCATGGTCACGCGGTGGAGGCGGAACGAGGAT
GGAGCCATCTGCAGGAAGAGCATAAAGAAGATGCTGGAAGTGCTGGTGGTGAAGCTCCCT
CTCTCCGAGCACTGGGCCCTGCCTGGGGGCTCCCGGGAGCCAGGGGAGATGCTACCTCGG
AAGCTGAAGCGGATCCTCCGGCAGGAGCACTGGCCGTCTTTTGAAAACTTGCTGAAGTGC
GGCATGGAGGTGTACAAAGGCTACATGGATGACCCGAGGAACACGGACAATGCCTGGATC
GAGACGGTGGCCGTCAGCGTCCACTTCCAGGACCAGAATGACGTGGAGCTGAACAGGCTG
AACTCTAACCTGCACGCCTGCGACTCGGGGGCCTCCATCCGATGGCAGGTGGTGGACAGG
CGCATCCCACTCTATGCGAACCACAAGACCCTCCTCCAGAAGGCAGCCGCTGAGTTCGGG
GCTCACTACTGA
|
| Enzyme 20 GenBank Gene ID |
AB001535  |
| Enzyme 20 GeneCard ID |
TRPM2  |
| Enzyme 20 GenAtlas ID |
TRPM2  |
| Enzyme 20 HGNC ID |
HGNC:12339  |
| Enzyme 20 Chromosome Location |
21 |
| Enzyme 20 Locus |
21q22.3 |
| Enzyme 20 SNPs |
SNPJam Report  |
| Enzyme 20 General References |
- Nagamine K, Kudoh J, Minoshima S, Kawasaki K, Asakawa S, Ito F, Shimizu N: Molecular cloning of a novel putative Ca2+ channel protein (TRPC7) highly expressed in brain. Genomics. 1998 Nov 15;54(1):124-31. [PubMed
]
- Wehage E, Eisfeld J, Heiner I, Jungling E, Zitt C, Luckhoff A: Activation of the cation channel long transient receptor potential channel 2 (LTRPC2) by hydrogen peroxide. A splice variant reveals a mode of activation independent of ADP-ribose. J Biol Chem. 2002 Jun 28;277(26):23150-6. Epub 2002 Apr 17. [PubMed
]
- Zhang W, Chu X, Tong Q, Cheung JY, Conrad K, Masker K, Miller BA: A novel TRPM2 isoform inhibits calcium influx and susceptibility to cell death. J Biol Chem. 2003 May 2;278(18):16222-9. Epub 2003 Feb 19. [PubMed
]
- Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML: The DNA sequence of human chromosome 21. Nature. 2000 May 18;405(6784):311-9. [PubMed
]
- Perraud AL, Fleig A, Dunn CA, Bagley LA, Launay P, Schmitz C, Stokes AJ, Zhu Q, Bessman MJ, Penner R, Kinet JP, Scharenberg AM: ADP-ribose gating of the calcium-permeable LTRPC2 channel revealed by Nudix motif homology. Nature. 2001 May 31;411(6837):595-9. [PubMed
]
- Sano Y, Inamura K, Miyake A, Mochizuki S, Yokoi H, Matsushime H, Furuichi K: Immunocyte Ca2+ influx system mediated by LTRPC2. Science. 2001 Aug 17;293(5533):1327-30. [PubMed
]
- Hara Y, Wakamori M, Ishii M, Maeno E, Nishida M, Yoshida T, Yamada H, Shimizu S, Mori E, Kudoh J, Shimizu N, Kurose H, Okada Y, Imoto K, Mori Y: LTRPC2 Ca2+-permeable channel activated by changes in redox status confers susceptibility to cell death. Mol Cell. 2002 Jan;9(1):163-73. [PubMed
]
|
| Enzyme 20 Metabolite References |
Not Available |
|
Enzyme 21
[top]
|
| Enzyme 21 ID |
7522 |
| Enzyme 21 Name |
Sodium/nucleoside cotransporter 2 |
| Enzyme 21 Synonyms |
- Na(+/nucleoside cotransporter 2
- Sodium-coupled nucleoside transporter 2
- Concentrative nucleoside transporter 2
- CNT 2
- hCNT2
- Sodium/purine nucleoside co- transporter
- SPNT
|
| Enzyme 21 Gene Name |
SLC28A2 |
| Enzyme 21 Protein Sequence |
>Sodium/nucleoside cotransporter 2
MEKASGRQSIALSTVETGTVNPGLELMEKEVEPEGSKRTDAQGHSLGDGLGPSTYQRRSR
WPFSKARSFCKTHASLFKKILLGLLCLAYAAYLLAACILNFQRALALFVITCLVIFVLVH
SFLKKLLGKKLTRCLKPFENSRLRLWTKWVFAGVSLVGLILWLALDTAQRPEQLIPFAGI
CMFILILFACSKHHSAVSWRTVFSGLGLQFVFGILVIRTDLGYTVFQWLGEQVQIFLNYT
VAGSSFVFGDTLVKDVFAFQALPIIIFFGCVVSILYYLGLVQWVVQKVAWFLQITMGTTA
TETLAVAGNIFVGMTEAPLLIRPYLGDMTLSEIHAVMTGGFATISGTVLGAFIAFGVDAS
SLISASVMAAPCALASSKLAYPEVEESKFKSEEGVKLPRGKERNVLEAASNGAVDAIGLA
TNVAANLIAFLAVLAFINAALSWLGELVDIQGLTFQVICSYLLRPMVFMMGVEWTDCPMV
AEMVGIKFFINEFVAYQQLSQYKNKRLSGMEEWIEGEKQWISVRAEIITTFSLCGFANLS
SIGITLGGLTSIVPHRKSDLSKVVVRALFTGACVSLISACMAGILYVPRGAEADCVSFPN
TSFTNRTYETYMCCRGLFQSTSLNGTNPPSFSGPWEDKEFSAMALTNCCGFYNNTVCA
|
| Enzyme 21 Number of Residues |
658 |
| Enzyme 21 Molecular Weight |
71927 |
| Enzyme 21 Theoretical pI |
8.00 |
| Enzyme 21 GO Classification |
| Function |
- binding
- nucleobase, nucleoside, nucleotide and nucleic acid transporter activity
- nucleoside binding
- nucleoside transporter activity
- nucleoside:sodium symporter activity
- transporter activity
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
|
|
| Enzyme 21 General Function |
Nucleotide transport and metabolism |
| Enzyme 21 Specific Function |
Sodium-dependent and purine-selective transporter. Exhibits the transport characteristics of the nucleoside transport system cif or N1 subtype (N1/cif) (selective for purine nucleosides and uridine). Plays a critical role in specific uptake and salvage of purine nucleosides in kidney and other tissues |
| Enzyme 21 Pathways |
Not Available |
| Enzyme 21 Reactions |
Not Available |
| Enzyme 21 Pfam Domain Function |
|
| Enzyme 21 Signals |
|
| Enzyme 21 Transmembrane Regions |
- 80-100
104-123
148-166
172-192
200-220
233-253
260-280
295-314
336-355
362-381
423-443
454-474
529-549
567-587
|
| Enzyme 21 Essentiality |
Not Available |
| Enzyme 21 GenBank ID Protein |
2731439  |
| Enzyme 21 UniProtKB/Swiss-Prot ID |
O43868  |
| Enzyme 21 UniProtKB/Swiss-Prot Entry Name |
S28A2_HUMAN  |
| Enzyme 21 PDB ID |
Not Available |
| Enzyme 21 Cellular Location |
Not Available |
| Enzyme 21 Gene Sequence |
>1977 bp
ATGGAGAAAGCAAGTGGAAGACAGTCCATTGCTCTGTCCACAGTGGAGACTGGCACAGTG
AACCCGGGGCTGGAGCTCATGGAAAAAGAAGTAGAGCCTGAGGGAAGCAAGAGGACTGAC
GCACAAGGACACAGCCTGGGGGATGGACTGGGCCCTTCCACTTACCAGAGGAGGAGTCGG
TGGCCTTTCAGCAAAGCAAGAAGTTTCTGCAAAACACACGCCAGATTGTTCAAGAAGATC
CTGTTGGGCCTGTTGTGTTTGGCCTATGCTGCCTATCTCCTGGCAGCTTGCATCTTGAAT
TTCCAGAGGGCACTGGCCTTGTTTGTCATCACCTGCTTGGTGATCTTTGTCCTGGTTCAC
TCGTTTTTGAAAAAGCTCCTGGGCAAAAAATTAACAAGATGTCTGAAGCCCTTTGAAAAC
TCCCGCCTGAGGCTTTGGACGAAATGGGTGTTTGCAGGAGTCTCCTTGGTTGGCCTTATA
CTGTGGTTGGCTTTAGACACAGCCCAAAGGCCAGAGCAGCTGATCCCCTTTGCAGGAATC
TGCATGTTCATCCTTATCCTCTTTGCCTGCTCCAAACACCACAGCGCAGTGTCCTGGAGG
ACAGTGTTTTCGGGCCTAGGTCTTCAATTTGTCTTTGGGATCTTGGTCATCAGAACTGAT
CTTGGATATACTGTATTTCAGTGGCTGGGAGAGCAGGTCCAGATTTTCCTGAACTACACT
GTGGCCGGCTCCAGTTTTGTCTTTGGGGATACACTGGTCAAGGATGTCTTTGCTTTTCAG
GCCTTACCAATCATCATTTTCTTTGGATGTGTGGTGTCCATTCTCTACTACCTGGGCCTG
GTGCAATGGGTAGTTCAGAAGGTCGCCTGGTTTTTACAAATCACTATGGGCACCACTGCT
ACAGAGACCCTGGCTGTGGCAGGAAACATCTTTGTGGGTATGACAGAGGCACCTCTGCTC
ATCCGTCCCTACCTTGGGGACATGACACTCTCTGAAATCCATGCGGTGATGACTGGAGGG
TTTGCCACCATTTCTGGCACTGTGCTGGGAGCCTTCATAGCCTTTGGGGTTGATGCATCA
TCCCTGATTTCTGCCTCTGTGATGGCCGCCCCTTGTGCTCTCGCCTCATCAAAGCTAGCG
TATCCGGAAGTGGAGGAGTCCAAGTTCAAGAGTGAGGAGGGGGTAAAGCTGCCCCGTGGG
AAGGAGAGGAATGTCCTGGAAGCTGCCAGCAACGGAGCCGTAGATGCCATAGGCCTTGCT
ACTAATGTAGCAGCCAACCTGATTGCCTTTTTGGCTGTGTTGGCCTTCATCAATGCTGCC
CTCTCCTGGCTGGGGGAATTGGTGGACATACAGGGGCTCACTTTCCAGGTCATCTGCTCC
TATCTCCTAAGGCCCATGGTTTTCATGATGGGTGTAGAGTGGACAGACTGTCCAATGGTG
GCTGAGATGGTGGGAATCAAGTTCTTCATAAATGAGTTTGTGGCTTATCAGCAACTGTCT
CAATACAAGAACAAACGTCTCTCTGGAATGGAGGAGTGGATTGAGGGAGAGAAACAGTGG
ATTTCTGTGAGAGCTGAAATCATTACAACATTTTCACTCTGTGGATTTGCCAATCTTAGT
TCCATAGGAATCACACTTGGAGGCTTGACATCAATAGTACCTCACCGGAAGAGTGACTTG
TCCAAGGTTGTGGTCAGGGCCCTCTTCACAGGGGCCTGTGTATCCCTTATCAGTGCCTGT
ATGGCAGGAATCCTCTATGTCCCCAGGGGAGCTGAAGCTGACTGTGTCTCCTTCCCAAAC
ACAAGTTTCACCAATAGAACCTATGAGACCTACATGTGCTGCAGAGGGCTCTTTCAGAGT
ACTTCTCTGAATGGCACCAACCCTCCTTCTTTTTCTGGTCCCTGGGAAGATAAGGAGTTC
AGTGCTATGGCCCTTACTAACTGCTGTGGATTCTACAACAATACCGTCTGTGCCTAA
|
| Enzyme 21 GenBank Gene ID |
U84392  |
| Enzyme 21 GeneCard ID |
SLC28A2  |
| Enzyme 21 GenAtlas ID |
SLC28A2  |
| Enzyme 21 HGNC ID |
HGNC:11002  |
| Enzyme 21 Chromosome Location |
15 |
| Enzyme 21 Locus |
15q15 |
| Enzyme 21 SNPs |
SNPJam Report  |
| Enzyme 21 General References |
- Wang J, Su SF, Dresser MJ, Schaner ME, Washington CB, Giacomini KM: Na(+)-dependent purine nucleoside transporter from human kidney: cloning and functional characterization. Am J Physiol. 1997 Dec;273(6 Pt 2):F1058-65. [PubMed
]
- Ritzel MW, Yao SY, Ng AM, Mackey JR, Cass CE, Young JD: Molecular cloning, functional expression and chromosomal localization of a cDNA encoding a human Na+/nucleoside cotransporter (hCNT2) selective for purine nucleosides and uridine. Mol Membr Biol. 1998 Oct-Dec;15(4):203-11. [PubMed
]
- Loewen SK, Ng AM, Yao SY, Cass CE, Baldwin SA, Young JD: Identification of amino acid residues responsible for the pyrimidine and purine nucleoside specificities of human concentrative Na(+) nucleoside cotransporters hCNT1 and hCNT2. J Biol Chem. 1999 Aug 27;274(35):24475-84. [PubMed
]
|
| Enzyme 21 Metabolite References |
Not Available |
|
Enzyme 22
[top]
|
| Enzyme 22 ID |
7637 |
| Enzyme 22 Name |
Sodium-dependent noradrenaline transporter |
| Enzyme 22 Synonyms |
- Norepinephrine transporter
- NET
|
| Enzyme 22 Gene Name |
SLC6A2 |
| Enzyme 22 Protein Sequence |
>Sodium-dependent noradrenaline transporter
MLLARMNPQVQPENNGADTGPEQPLRARKTAELLVVKERNGVQCLLAPRDGDAQPRETWG
KKIDFLLSVVGFAVDLANVWRFPYLCYKNGGGAFLIPYTLFLIIAGMPLFYMELALGQYN
REGAATVWKICPFFKGVGYAVILIALYVGFYYNVIIAWSLYYLFSSFTLNLPWTDCGHTW
NSPNCTDPKLLNGSVLGNHTKYSKYKFTPAAEFYERGVLHLHESSGIHDIGLPQWQLLLC
LMVVVIVLYFSLWKGVKTSGKVVWITATLPYFVLFVLLVHGVTLPGASNGINAYLHIDFY
RLKEATVWIDAATQIFFSLGAGFGVLIAFASYNKFDNNCYRDALLTSSINCITSFVSGFA
IFSILGYMAHEHKVNIEDVATEGAGLVFILYPEAISTLSGSTFWAVVFFVMLLALGLDSS
MGGMEAVITGLADDFQVLKRHRKLFTFGVTFSTFLLALFCITKGGIYVLTLLDTFAAGTS
ILFAVLMEAIGVSWFYGVDRFSNDIQQMMGFRPGLYWRLCWKFVSPAFLLFVVVVSIINF
KPLTYDDYIFPPWANWVGWGIALSSMVLVPIYVIYKFLSTQGSLWERLAYGITPENEHHL
VAQRDIRQFQLQHWLAI
|
| Enzyme 22 Number of Residues |
617 |
| Enzyme 22 Molecular Weight |
69333 |
| Enzyme 22 Theoretical pI |
7.53 |
| Enzyme 22 GO Classification |
| Function |
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- transporter activity
|
| Process |
- cellular physiological process
- neurotransmitter transport
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 22 General Function |
Not Available |
| Enzyme 22 Specific Function |
Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals |
| Enzyme 22 Pathways |
Not Available |
| Enzyme 22 Reactions |
Not Available |
| Enzyme 22 Pfam Domain Function |
|
| Enzyme 22 Signals |
|
| Enzyme 22 Transmembrane Regions |
- 65-85
93-112
136-156
235-253
262-279
315-332
344-365
398-417
444-462
478-498
519-538
557-575
|
| Enzyme 22 Essentiality |
Not Available |
| Enzyme 22 GenBank ID Protein |
189258  |
| Enzyme 22 UniProtKB/Swiss-Prot ID |
P23975  |
| Enzyme 22 UniProtKB/Swiss-Prot Entry Name |
SC6A2_HUMAN  |
| Enzyme 22 PDB ID |
Not Available |
| Enzyme 22 Cellular Location |
Not Available |
| Enzyme 22 Gene Sequence |
>1854 bp
ATGCTTCTGGCGCGGATGAACCCGCAGGTGCAGCCCGAGAACAACGGGGCGGACACGGGT
CCAGAGCAGCCCCTTCGGGCGCGCAAAACTGCGGAGCTGCTGGTGGTGAAGGAGCGCAAC
GGCGTCCAGTGCCTGCTGGCGCCCCGCGACGGCGACGCGCAGCCCCGGGAGACCTGGGGC
AAGAAGATCGACTTCCTGCTGTCCGTAGTCGGCTTCGCAGTGGACCTGGCCAACGTGTGG
CGCTTCCCCTACCTCTGCTACAAGAACGGCGGCGGTGCCTTCTTGATCCCGTACACACTG
TTCCTTATCATCGCGGGGATGCCCCTGTTCTACATGGAGCTGGCTCTGGGACAGTACAAC
CGGGAGGGGGCTGCCACCGTTTGGAAAATCTGCCCATTCTTCAAAGGCGTTGGCTATGCT
GTCATCCTGATCGCCCTGTACGTTGGCTTCTACTACAACGTCATCATCGCCTGGTCACTC
TACTACCTCTTCTCCTCCTTCACCCTCAACCTGCCCTGGACCGACTGTGGCCACACCTGG
AACAGCCCCAACTGTACCGACCCCAAGCTCCTCAATGGCTCCGTGCTTGGCAACCACACC
AAGTACTCCAAGTACAAGTTCACGCCGGCAGCCGAGTTTTATGAGCGTGGTGTCCTGCAC
CTTCACGAGAGCAGCGGGATTCATGACATCGGCCTGCCCCAGTGGCAGCTCTTGCTCTGT
CTGATGGTCGTCGTCATCGTCTTGTATTTTAGCCTCTGGAAAGGGGTGAAGACATCAGGA
AAGGTGGTGTGGATCACAGCCACGCTGCCTTACTTCGTGCTGTTCGTGCTCCTGGTCCAT
GGCGTCACGCTGCCCGGAGCCTCCAATGGCATCAATGCCTACCTGCACATCGACTTCTAC
CGCTTGAAAGAGGCCACGGTATGGATTGATGCCGCAACTCAGATATTTTTTTCCTTGGGG
GCTGGATTTGGAGTATTGATTGCATTTGCCAGTTACAACAAATTTGACAACAACTGTTAC
AGGGATGCCCTGCTGACCAGCAGCATCAACTGTATCACCAGCTTCGTCTCTGGGTTCGCC
ATCTTCTCCATCCTTGGTTACATGGCCCATGAACACAAGGTCAACATTGAGGATGTGGCC
ACAGAAGGAGCTGGCCTAGTGTTCATCCTGTATCCAGAGGCCATTTCTACCCTGTCTGGA
TCTACATTCTGGGCTGTTGTGTTTTTCGTCATGCTCCTGGCGCTGGGCCTTGACAGCTCA
ATGGGAGGCATGGAGGCTGTCATCACGGGCCTGGCAGATGACTTCCAGGTCCTGAAGCGA
CACCGGAAACTCTTCACATTTGGCGTCACCTTCAGCACTTTCCTTCTCGCCCTGTTCTGC
ATAACCAAGGGTGGAATTTACGTCTTGACCCTCCTGGACACCTTTGCTGCGGGCACCTCC
ATCCTTTTTGCTGTCCTCATGGAAGCCATCGGAGTTTCCTGGTTTTATGGAGTGGACAGG
TTCAGCAACGACATCCAGCAGATGATGGGGTTCAGGCCGGGTCTATACTGGAGACTGTGC
TGGAAGTTCGTCAGTCCTGCCTTCCTCCTGTTCGTGGTTGTGGTCAGCATCATCAACTTC
AAGCCACTCACCTACGACGACTACATCTTCCCGCCCTGGGCCAACTGGGTGGGGTGGGGC
ATCGCCCTGTCCTCCATGGTCCTGGTGCCCATCTACGTCATCTATAAGTTCCTCAGCACG
CAGGGCTCTCTTTGGGAGAGACTGGCCTATGGCATCACGCCAGAGAACGAGCACCACCTG
GTGGCTCAGAGGGACATCAGACAGTTCCAGTTGCAACACTGGCTGGCCATCTGA
|
| Enzyme 22 GenBank Gene ID |
M65105  |
| Enzyme 22 GeneCard ID |
SLC6A2  |
| Enzyme 22 GenAtlas ID |
SLC6A2  |
| Enzyme 22 HGNC ID |
HGNC:11048  |
| Enzyme 22 Chromosome Location |
16 |
| Enzyme 22 Locus |
16q12.2 |
| Enzyme 22 SNPs |
SNPJam Report  |
| Enzyme 22 General References |
- Pacholczyk T, Blakely RD, Amara SG: Expression cloning of a cocaine- and antidepressant-sensitive human noradrenaline transporter. Nature. 1991 Mar 28;350(6316):350-4. [PubMed
]
- Porzgen P, Bonisch H, Bruss M: Molecular cloning and organization of the coding region of the human norepinephrine transporter gene. Biochem Biophys Res Commun. 1995 Oct 24;215(3):1145-50. [PubMed
]
- Torres GE, Yao WD, Mohn AR, Quan H, Kim KM, Levey AI, Staudinger J, Caron MG: Functional interaction between monoamine plasma membrane transporters and the synaptic PDZ domain-containing protein PICK1. Neuron. 2001 Apr;30(1):121-34. [PubMed
]
- Shannon JR, Flattem NL, Jordan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D: Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. N Engl J Med. 2000 Feb 24;342(8):541-9. [PubMed
]
|
| Enzyme 22 Metabolite References |
Not Available |
|
Enzyme 23
[top]
|
| Enzyme 23 ID |
7649 |
| Enzyme 23 Name |
Sodium-dependent serotonin transporter |
| Enzyme 23 Synonyms |
- 5HT transporter
- 5HTT
|
| Enzyme 23 Gene Name |
SLC6A4 |
| Enzyme 23 Protein Sequence |
>Sodium-dependent serotonin transporter
METTPLNSQKQLSACEDGEDCQENGVLQKVVPTPGDKVESGQISNGYSAVPSPGAGDDTR
HSIPATTTTLVAELHQGERETWGKKVDFLLSVIGYAVDLGNVWRFPYICYQNGGGAFLLP
YTIMAIFGGIPLFYMELALGQYHRNGCISIWRKICPIFKGIGYAICIIAFYIASYYNTIM
AWALYYLISSFTDQLPWTSCKNSWNTGNCTNYFSEDNITWTLHSTSPAEEFYTRHVLQIH
RSKGLQDLGGISWQLALCIMLIFTVIYFSIWKGVKTSGKVVWVTATFPYIILSVLLVRGA
TLPGAWRGVLFYLKPNWQKLLETGVWIDAAAQIFFSLGPGFGVLLAFASYNKFNNNCYQD
ALVTSVVNCMTSFVSGFVIFTVLGYMAEMRNEDVSEVAKDAGPSLLFITYAEAIANMPAS
TFFAIIFFLMLITLGLDSTFAGLEGVITAVLDEFPHVWAKRRERFVLAVVITCFFGSLVT
LTFGGAYVVKLLEEYATGPAVLTVALIEAVAVSWFYGITQFCRDVKEMLGFSPGWFWRIC
WVAISPLFLLFIICSFLMSPPQLRLFQYNYPYWSIILGYCIGTSSFICIPTYIAYRLIIT
PGTFKERIIKSITPETPTEIPCGDIRLNAV
|
| Enzyme 23 Number of Residues |
630 |
| Enzyme 23 Molecular Weight |
70325 |
| Enzyme 23 Theoretical pI |
6.17 |
| Enzyme 23 GO Classification |
| Function |
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- transporter activity
|
| Process |
- cellular physiological process
- neurotransmitter transport
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 23 General Function |
Not Available |
| Enzyme 23 Specific Function |
Terminates the action of serotonin by its high affinity sodium-dependent reuptake into presynaptic terminals |
| Enzyme 23 Pathways |
Not Available |
| Enzyme 23 Reactions |
Not Available |
| Enzyme 23 Pfam Domain Function |
|
| Enzyme 23 Signals |
|
| Enzyme 23 Transmembrane Regions |
- 88-108
116-135
160-180
253-271
280-297
333-350
362-383
417-436
464-482
498-518
539-558
577-595
|
| Enzyme 23 Essentiality |
Not Available |
| Enzyme 23 GenBank ID Protein |
36433  |
| Enzyme 23 UniProtKB/Swiss-Prot ID |
P31645  |
| Enzyme 23 UniProtKB/Swiss-Prot Entry Name |
SC6A4_HUMAN  |
| Enzyme 23 PDB ID |
Not Available |
| Enzyme 23 Cellular Location |
Not Available |
| Enzyme 23 Gene Sequence |
>1893 bp
ATGGAGACGACGCCCTTGAATTCTCAGAAGCAGCTATCAGCGTGTGAAGATGGAGAAGAT
TGTCAGGAAAACGGAGTTCTACAGAAGGTTGTTCCCACCCCAGGGGACAAAGTGGAGTCC
GGGCAAATATCCAATGGGTACTCAGCAGTTCCAAGTCCTGGTGCGGGAGATGACACACGG
CACTCTATCCCAGCGACCACCACCACCCTAGTGGCTGAGCTTCATCAAGGGGAACGGGAG
ACCTGGGGCAAGAAGGTGGATTTCCTTCTCTCAGTGATTGGCTATGCTGTGGACCTGGGC
AATGTCTGGCGCTTCCCCTACATATGTTACCAGAATGGAGGGGGGGCATTCCTCCTCCCC
TACACCATCATGGCCATTTTTGGGGGAATCCCGCTCTTTTACATGGAGCTCGCACTGGGA
CAGTACCACCGAAATGGATGCATTTCAATATGGAGGAAAATCTGCCCGATTTTCAAAGGG
ATTGGTTATGCCATCTGCATCATTGCCTTTTACATTGCTTCCTACTACAACACCATCATG
GCCTGGGCGCTATACTACCTCATCTCCTCCTTCACGGACCAGCTGCCCTGGACCAGCTGC
AAGAACTCCTGGAACACTGGCAACTGCACCAATTACTTCTCCGAGGACAACATCACCTGG
ACCCTCCATTCCACGTCCCCTGCTGAAGAATTTTACACGCGCCACGTCCTGCAGATCCAC
CGGTCTAAGGGGCTCCAGGACCTGGGGGGCATCAGCTGGCAGCTGGCCCTCTGCATCATG
CTGATCTTCACTGTTATCTACTTCAGCATCTGGAAAGGCGTCAAGACCTCTGGCAAGGTG
GTGTGGGTGACAGCCACCTTCCCTTATATCATCCTTTCTGTCCTGCTGGTGAGGGGTGCC
ACCCTCCCTGGAGCCTGGAGGGGTGTTCTCTTCTACTTGAAACCCAATTGGCAGAAACTC
CTGGAGACAGGGGTGTGGATAGATGCAGCCGCTCAGATCTTCTTCTCTCTTGGTCCGGGC
TTTGGGGTCCTGCTGGCTTTTGCTAGCTACAACAAGTTCAACAACAACTGCTACCAAGAT
GCCCTGGTGACCAGCGTGGTGAACTGCATGACGAGCTTCGTTTCGGGATTTGTCATCTTC
ACAGTGCTCGGTTACATGGCTGAGATGAGGAATGAAGATGTGTCTGAGGTGGCCAAAGAC
GCAGGTCCCAGCCTCCTCTTCATCACGTATGCAGAAGCGATAGCCAACATGCCAGCGTCC
ACTTTCTTTGCCATCATCTTCTTTCTGATGTTAATCACGCTGGGCTTGGACAGCACGTTT
GCAGGCTTGGAGGGGGTGATCACGGCTGTGCTGGATGAGTTCCCACACGTCTGGGCCAAG
CGCCGGGAGCGGTTCGTGCTCGCCGTGGTCATCACCTGCTTCTTTGGATCCCTGGTCACC
CTGACTTTTGGAGGGGCCTACGTGGTGAAGCTGCTGGAGGAGTATGCCACGGGGCCCGCA
GTGCTCACTGTCGCGCTGATCGAAGCAGTCGCTGTGTCTTGGTTCTATGGCATCACTCAG
TTCTGCAGGGACGTGAAGGAAATGCTCGGCTTCAGCCCGGGGTGGTTCTGGAGGATCTGC
TGGGTGGCCATCAGCCCTCTGTTTCTCCTGTTCATCATTTGCAGTTTTCTGATGAGCCCG
CCACAACTACGACTTTTCCAATATAATTATCCTTACTGGAGTATCATCTTGGGTTACTGC
ATAGGAACCTCATCTTTCATTTGCATCCCCACATATATAGCTTATCGGTTGATCATCACT
CCAGGGACATTTAAAGAGCGTATTATTAAAAGTATTACCCCGGAGACACCAACAGAAATT
CCTTGTGGGGACATCCGCTTGAATGCTGTGTAA
|
| Enzyme 23 GenBank Gene ID |
X70697  |
| Enzyme 23 GeneCard ID |
SLC6A4  |
| Enzyme 23 GenAtlas ID |
SLC6A4  |
| Enzyme 23 HGNC ID |
HGNC:11050  |
| Enzyme 23 Chromosome Location |
17 |
| Enzyme 23 Locus |
17q11.1-q12 |
| Enzyme 23 SNPs |
SNPJam Report  |
| Enzyme 23 General References |
- Lesch KP, Wolozin BL, Estler HC, Murphy DL, Riederer P: Isolation of a cDNA encoding the human brain serotonin transporter. J Neural Transm Gen Sect. 1993;91(1):67-72. [PubMed
]
- Ramamoorthy S, Bauman AL, Moore KR, Han H, Yang-Feng T, Chang AS, Ganapathy V, Blakely RD: Antidepressant- and cocaine-sensitive human serotonin transporter: molecular cloning, expression, and chromosomal localization. Proc Natl Acad Sci U S A. 1993 Mar 15;90(6):2542-6. [PubMed
]
- Lesch KP, Wolozin BL, Murphy DL, Reiderer P: Primary structure of the human platelet serotonin uptake site: identity with the brain serotonin transporter. J Neurochem. 1993 Jun;60(6):2319-22. [PubMed
]
- Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 1999 Jul;22(3):231-8. [PubMed
]
- Caspi A, Sugden K, Moffitt TE, Taylor A, Craig IW, Harrington H, McClay J, Mill J, Martin J, Braithwaite A, Poulton R: Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene. Science. 2003 Jul 18;301(5631):386-9. [PubMed
]
|
| Enzyme 23 Metabolite References |
Not Available |
|
Enzyme 24
[top]
|
| Enzyme 24 ID |
7717 |
| Enzyme 24 Name |
Transient receptor potential cation channel subfamily M member 8 |
| Enzyme 24 Synonyms |
- Transient receptor potential-p8
- Trp-p8
- Long transient receptor potential channel 6
- LTrpC6
|
| Enzyme 24 Gene Name |
TRPM8 |
| Enzyme 24 Protein Sequence |
>Transient receptor potential cation channel subfamily M member 8
MSFRAARLSMRNRRNDTLDSTRTLYSSASRSTDLSYSESDLVNFIQANFKKRECVFFTKD
SKATENVCKCGYAQSQHMEGTQINQSEKWNYKKHTKEFPTDAFGDIQFETLGKKGKYIRL
SCDTDAEILYELLTQHWHLKTPNLVISVTGGAKNFALKPRMRKIFSRLIYIAQSKGAWIL
TGGTHYGLMKYIGEVVRDNTISRSSEENIVAIGIAAWGMVSNRDTLIRNCDAEGYFLAQY
LMDDFTRDPLYILDNNHTHLLLVDNGCHGHPTVEAKLRNQLEKYISERTIQDSNYGGKIP
IVCFAQGGGKETLKAINTSIKNKIPCVVVEGSGQIADVIASLVEVEDALTSSAVKEKLVR
FLPRTVSRLPEEETESWIKWLKEILECSHLLTVIKMEEAGDEIVSNAISYALYKAFSTSE
QDKDNWNGQLKLLLEWNQLDLANDEIFTNDRRWESADLQEVMFTALIKDRPKFVRLFLEN
GLNLRKFLTHDVLTELFSNHFSTLVYRNLQIAKNSYNDALLTFVWKLVANFRRGFRKEDR
NGRDEMDIELHDVSPITRHPLQALFIWAILQNKKELSKVIWEQTRGCTLAALGASKLLKT
LAKVKNDINAAGESEELANEYETRAVELFTECYSSDEDLAEQLLVYSCEAWGGSNCLELA
VEATDQHFIAQPGVQNFLSKQWYGEISRDTKNWKIILCLFIIPLVGCGFVSFRKKPVDKH
KKLLWYYVAFFTSPFVVFSWNVVFYIAFLLLFAYVLLMDFHSVPHPPELVLYSLVFVLFC
DEVRQWYVNGVNYFTDLWNVMDTLGLFYFIAGIVFRLHSSNKSSLYSGRVIFCLDYIIFT
LRLIHIFTVSRNLGPKIIMLQRMLIDVFFFLFLFAVWMVAFGVARQGILRQNEQRWRWIF
RSVIYEPYLAMFGQVPSDVDGTTYDFAHCTFTGNESKPLCVELDEHNLPRFPEWITIPLV
CIYMLSTNILLVNLLVAMFGYTVGTVQENNDQVWKFQRYFLVQEYCSRLNIPFPFIVFAY
FYMVVKKCFKCCCKEKNMESSVCCFKNEDNETLAWEGVMKENYLVKINTKANDTSEEMRH
RFRQLDTKLNDLKGLLKEIANKIK
|
| Enzyme 24 Number of Residues |
1104 |
| Enzyme 24 Molecular Weight |
127686 |
| Enzyme 24 Theoretical pI |
7.25 |
| Enzyme 24 GO Classification |
Not Available |
| Enzyme 24 General Function |
Not Available |
| Enzyme 24 Specific Function |
Receptor-activated non-selective cation channel involved in detection of sensations such as coolness, by being activated by cold temperature below 25 degrees Celsius. Activated by icilin, eucalyptol, menthol, cold and modulation of intracellular pH. Involved in menthol sensation. Permeable for monovalent cations sodium, potassium, and cesium and divalent cation calcium. Temperature sensing is tightly linked to voltage-dependent gating. Activated upon depolarization, changes in temperature resulting in graded shifts of its voltage-dependent activation curves. The chemical agonists menthol functions as a gating modifier, shifting activation curves towards physiological membrane potentials. Temperature sensitivity arises from a tenfold difference in the activation energies associated with voltage-dependent opening and closing |
| Enzyme 24 Pathways |
Not Available |
| Enzyme 24 Reactions |
Not Available |
| Enzyme 24 Pfam Domain Function |
Not Available |
| Enzyme 24 Signals |
|
| Enzyme 24 Transmembrane Regions |
- 692-712
735-755
760-780
795-815
830-850
959-979
|
| Enzyme 24 Essentiality |
Not Available |
| Enzyme 24 GenBank ID Protein |
20147036  |
| Enzyme 24 UniProtKB/Swiss-Prot ID |
Q7Z2W7  |
| Enzyme 24 UniProtKB/Swiss-Prot Entry Name |
TRPM8_HUMAN  |
| Enzyme 24 PDB ID |
Not Available |
| Enzyme 24 Cellular Location |
Not Available |
| Enzyme 24 Gene Sequence |
>3315 bp
ATGTCCTTTCGGGCAGCCAGGCTCAGCATGAGGAACAGAAGGAATGACACTCTGGACAGC
ACCCGGACCCTGTACTCCAGCGCGTCTCGGAGCACAGACTTGTCTTACAGTGAAAGCGAC
TTGGTGAATTTTATTCAAGCAAATTTTAAGAAACGAGAATGTGTCTTCTTTATCAAAGAT
TCCAAGGCCACGGAGAATGTGTGCAAGTGTGGCTATGCCCAGAGCCAGCACATGGAAGGC
ACCCAGATCAACCAAAGTGAGAAATGGAACTACAAGAAACACACCAAGGAATTTCCTACC
GACGCCTTTGGGGATATTCAGTTTGAGACACTGGGGAAGAAAGGGAAGTATATACGTCTG
TCCTGCGACACGGACGCGGAAATCCTTTACGAGCTGCTGACCCAGCACTGGCACCTGAAA
ACACCCAACCTGGTCATTTCTGTGACCGGGGGCGCCAAGAACTTCGCCCTGAAGCCGCGC
ATGCGCAAGATCTTCAGCCGGCTCATCTACATCGCGCAGTCCAAAGGTGCTTGGATTCTC
ACGGGAGGCACCCATTATGGCCTGATGAAGTACATCGGGGAGGTGGTGAGAGATAACACC
ATCAGCAGGAGTTCAGAGGAGAATATTGTGGCCATTGGCATAGCAGCTTGGGGCATGGTC
TCCAACCGGGACACCCTCATCAGGAATTGCGATGCTGAGGGCTATTTTTTAGCCCAGTAC
CTTATGGATGACTTCACAAGAGATCCACTGTATATCCTGGACAACAACCACACACATTTG
CTGCTCGTGGACAATGGCTGTCATGGACATCCCACTGTCGAAGCAAAGCTCCGGAATCAG
CTAGAGAAGTATATCTCTGAGCGCACTATTCAAGATTCCAACTATGGTGGCAAGATCCCC
ATTGTGTGTTTTGCCCAAGGAGGTGGAAAAGAGACTTTGAAAGCCATCAATACCTCCATC
AAAAATAAAATTCCTTGTGTGGTGGTGGAAGGCTCGGGCCAGATCGCTGATGTGATCGCT
AGCCTGGTGGAGGTGGAGGATGCCCTGACATCTTCTGCCGTCAAGGAGAAGCTGGTGCGC
TTTTTACCCCGCACGGTGTCCCGGCTGCCTGAGGAGGAGACTGAGAGTTGGATCAAATGG
CTCAAAGAAATTCTCGAATGTTCTCACCTATTAACAGTTATTAAAATGGAAGAAGCTGGG
GATGAAATTGTGAGCAATGCCATCTCCTACGCTCTATACAAAGCCTTCAGCACCAGTGAG
CAAGACAAGGATAACTGGAATGGGCAGCTGAAGCTTCTGCTGGAGTGGAACCAGCTGGAC
TTAGCCAATGATGAGATTTTCACCAATGACCGCCGATGGGAGTCTGCTGACCTTCAAGAA
GTCATGTTTACGGCTCTCATAAAGGACAGACCCAAGTTTGTCCGCCTCTTTCTGGAGAAT
GGCTTGAACCTACGGAAGTTTCTCACCCATGATGTCCTCACTGAACTCTTCTCCAACCAC
TTCAGCACGCTTGTGTACCGGAATCTGCAGATCGCCAAGAATTCCTATAATGATGCCCTC
CTCACGTTTGTCTGGAAACTGGTTGCGAACTTCCGAAGAGGCTTCCGGAAGGAAGACAGA
AATGGCCGGGACGAGATGGACATAGAACTCCACGACGTGTCTCCTATTACTCGGCACCCC
CTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATT
TGGGAGCAGACCAGGGGCTGCACTCTGGCAGCCCTGGGAGCCAGCAAGCTTCTGAAGACT
CTGGCCAAAGTGAAGAACGACATCAATGCTGCTGGGGAGTCCGAGGAGCTGGCTAATGAG
TACGAGACCCGGGCTGTTGAGCTGTTCACTGAGTGTTACAGCAGCGATGAAGACTTGGCA
GAACAGCTGCTGGTCTATTCCTGTGAAGCTTGGGGTGGAAGCAACTGTCTGGAGCTGGCG
GTGGAGGCCACAGACCAGCATTTCATCGCCCAGCCTGGGGTCCAGAATTTTCTTTCTAAG
CAATGGTATGGAGAGATTTCCCGAGACACCAAGAACTGGAAGATTATCCTGTGTCTGTTT
ATTATACCCTTGGTGGGCTGTGGCTTTGTATCATTTAGGAAGAAACCTGTCGACAAGCAC
AAGAAGCTGCTTTGGTACTATGTGGCGTTCTTCACCTCCCCCTTCGTGGTCTTCTCCTGG
AATGTGGTCTTCTACATCGCCTTCCTCCTGCTGTTTGCCTACGTGCTGCTCATGGATTTC
CATTCGGTGCCACACCCCCCCGAGCTGGTCCTGTACTCGCTGGTCTTTGTCCTCTTCTGT
GATGAAGTGAGACAGTGGTACGTAAATGGGGTGAATTATTTTACTGACCTGTGGAATGTG
ATGGACACGCTGGGGCTTTTTTACTTCATAGCAGGAATTGTATTTCGGCTCCACTCTTCT
AATAAAAGCTCTTTGTATTCTGGACGAGTCATTTTCTGTCTGGACTACATTATTTTCACT
CTAAGATTGATCCACATTTTTACTGTAAGCAGAAACTTAGGACCCAAGATTATAATGCTG
CAGAGGATGCTGATCGATGTGTTCTTCTTCCTGTTCCTCTTTGCGGTGTGGATGGTGGCC
TTTGGCGTGGCCAGGCAAGGGATCCTTAGGCAGAATGAGCAGCGCTGGAGGTGGATATTC
CGTTCGGTCATCTACGAGCCCTACCTGGCCATGTTCGGCCAGGTGCCCAGTGACGTGGAT
GGTACCACGTATGACTTTGCCCACTGCACCTTCACTGGGAATGAGTCCAAGCCACTGTGT
GTGGAGCTGGATGAGCACAACCTGCCCCGGTTCCCCGAGTGGATCACCATCCCCCTGGTG
TGCATCTACATGTTATCCACCAACATCCTGCTGGTCAACCTGCTGGTCGCCATGTTTGGC
TACACGGTGGGCACCGTCCAGGAGAACAATGACCAGGTCTGGAAGTTCCAGAGGTACTTC
CTGGTGCAGGAGTACTGCAGCCGCCTCAATATCCCCTTCCCCTTCATCGTCTTCGCTTAC
TTCTACATGGTGGTGAAGAAGTGCTTCAAGTGTTGCTGCAAGGAGAAAAACATGGAGTCT
TCTGTCTGCTGTTTCAAAAATGAAGACAATGAGACTCTGGCATGGGAGGGTGTCATGAAG
GAAAACTACCTTGTCAAGATCAACACAAAAGCCAACGACACCTCAGAGGAAATGAGGCAT
CGATTTAGACAACTGGATACAAAGCTTAATGATCTCAAGGGTCTTCTGAAAGAGATTGCT
AATAAAATCAAATAA
|
| Enzyme 24 GenBank Gene ID |
AY090109  |
| Enzyme 24 GeneCard ID |
TRPM8  |
| Enzyme 24 GenAtlas ID |
TRPM8  |
| Enzyme 24 HGNC ID |
HGNC:17961  |
| Enzyme 24 Chromosome Location |
2 |
| Enzyme 24 Locus |
2q37.1 |
| Enzyme 24 SNPs |
SNPJam Report  |
| Enzyme 24 General References |
- Tsavaler L, Shapero MH, Morkowski S, Laus R: Trp-p8, a novel prostate-specific gene, is up-regulated in prostate cancer and other malignancies and shares high homology with transient receptor potential calcium channel proteins. Cancer Res. 2001 May 1;61(9):3760-9. [PubMed
]
|
| Enzyme 24 Metabolite References |
Not Available |
|
Enzyme 25
[top]
|
| Enzyme 25 ID |
7752 |
| Enzyme 25 Name |
Amiloride-sensitive sodium channel subunit alpha |
| Enzyme 25 Synonyms |
- Epithelial Na(+channel subunit alpha
- Alpha ENaC
- Nonvoltage-gated sodium channel 1 subunit alpha
- SCNEA
- Alpha NaCH
|
| Enzyme 25 Gene Name |
SCNN1A |
| Enzyme 25 Protein Sequence |
>Amiloride-sensitive sodium channel subunit alpha
MEGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAEEEALIEFHRSYRELFE
FFCNNTTIHGAIRLVCSQHNRMKTAFWAVLWLCTFGMMYWQFGLLFGEYFSYPVSLNINL
NSDKLVFPAVTICTLNPYRYPEIKEELEELDRITEQTLFDLYKYSSFTTLVAGSRSRRDL
RGTLPHPLQRLRVPPPPHGARRARSVASSLRDNNPQVDWKDWKIGFQLCNQNKSDCFYQT
YSSGVDAVREWYRFHYINILSRLPETLPSLEEDTLGNFIFACRFNQVSCNQANYSHFHHP
MYGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRAEQNDFIPLLSTVTGARVMVHGQDEPA
FMDDGGFNLRPGVETSISMRKETLDRLGGDYGDCTKNGSDVPVENLYPSKYTQQVCIHSC
FQESMIKECGCAYIFYPRPQNVEYCDYRKHSSWGYCYYKLQVDFSSDHLGCFTKCRKPCS
VTSYQLSAGYSRWPSVTSQEWVFQMLSRQNNYTVNNKRNGVAKVNIFFKELNYKTNSESP
SVTMVTLLSNLGSQWSLWFGSSVLSVVEMAELVFDLLVIMFLMLLRRFRSRYWSPGRGGR
GAQEVASTLASSPPSHFCPHPMSLSLSQPGPAPSPALTAPPPAYATLGPRPSPGGSAGAS
SSTCPLGGP
|
| Enzyme 25 Number of Residues |
669 |
| Enzyme 25 Molecular Weight |
75704 |
| Enzyme 25 Theoretical pI |
7.54 |
| Enzyme 25 GO Classification |
| Function |
- amiloride-sensitive sodium channel activity
- cation channel activity
- ion channel activity
- ion transporter activity
- sodium channel activity
- transporter activity
|
| Process |
- cation transport
- cellular physiological process
- ion transport
- monovalent inorganic cation transport
- physiological process
- sodium ion transport
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 25 General Function |
Not Available |
| Enzyme 25 Specific Function |
Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception |
| Enzyme 25 Pathways |
Not Available |
| Enzyme 25 Reactions |
Not Available |
| Enzyme 25 Pfam Domain Function |
|
| Enzyme 25 Signals |
|
| Enzyme 25 Transmembrane Regions |
|
| Enzyme 25 Essentiality |
Not Available |
| Enzyme 25 GenBank ID Protein |
452650  |
| Enzyme 25 UniProtKB/Swiss-Prot ID |
P37088  |
| Enzyme 25 UniProtKB/Swiss-Prot Entry Name |
SCNNA_HUMAN  |
| Enzyme 25 PDB ID |
Not Available |
| Enzyme 25 Cellular Location |
Not Available |
| Enzyme 25 Gene Sequence |
>2010 bp
ATGGAGGGGAACAAGCTGGAGGAGCAGGACTCTAGCCCTCCACAGTCCACTCCAGGGCTC
ATGAAGGGGAACAAGCGTGAGGAGCAGGGGCTGGGCCCCGAACCTGCGGCGCCCCAGCAG
CCCACGGCGGAGGAGGAGGCCCTGATCGAGTTCCACCGCTCCTACCGAGAGCTCTTCGAG
TTCTTCTGCAACAACACCACCATCCACGGCGCCATCCGCCTGGTGTGCTCCCAGCACAAC
CGCATGAAGACGGCCTTCTGGGCAGTGCTGTGGCTCTGCACCTTTGGCATGATGTACTGG
CAATTCGGCCTGCTTTTCGGAGAGTACTTCAGCTACCCCGTCAGCCTCAACATCAACCTC
AACTCGGACAAGCTCGTCTTCCCCGCAGTGACCATCTGCACCCTCAATCCCTACAGGTAC
CCGGAAATTAAAGAGGAGCTGGAGGAGCTGGACCGCATCACAGAGCAGACGCTCTTTGAC
CTGTACAAATACAGCTCCTTCACCACTCTCGTGGCCGGCTCCCGCAGCCGTCGCGACCTG
CGGGGGACTCTGCCGCACCCCTTGCAGCGCCTGAGGGTCCCGCCCCCGCCTCACGGGGCC
CGTCGAGCCCGTAGCGTGGCCTCCAGCTTGCGGGACAACAACCCCCAGGTGGACTGGAAG
GACTGGAAGATCGGCTTCCAGCTGTGCAACCAGAACAAATCGGACTGCTTCTACCAGACA
TACTCATCAGGGGTGGATGCGGTGAGGGAGTGGTACCGCTTCCACTACATCAACATCCTG
TCGAGGCTGCCAGAGACTCTGCCATCCCTGGAGGAGGACACGCTGGGCAACTTCATCTTC
GCCTGCCGCTTCAACCAGGTCTCCTGCAACCAGGCGAATTACTCTCACTTCCACCACCCG
ATGTATGGAAACTGCTATACTTTCAATGACAAGAACAACTCCAACCTCTGGATGTCTTCC
ATGCCTGGAATCAACAACGGTCTGTCCCTGATGCTGCGCGCAGAGCAGAATGACTTCATT
CCCCTGCTGTCCACAGTGACTGGGGCCCGGGTAATGGTGCACGGGCAGGATGAACCTGCC
TTTATGGATGATGGTGGCTTTAACTTGCGGCCTGGCGTGGAGACCTCCATCAGCATGAGG
AAGGAAACCCTGGACAGACTTGGGGGCGATTATGGCGACTGCACCAAGAATGGCAGTGAT
GTTCCTGTTGAGAACCTTTACCCTTCAAAGTACACACAGCAGGTGTGTATTCACTCCTGC
TTCCAGGAGAGCATGATCAAGGAGTGTGGCTGTGCCTACATCTTCTATCCGCGGCCCCAG
AACGTGGAGTACTGTGACTACAGAAAGCACAGTTCCTGGGGGTACTGCTACTATAAGCTC
CAGGTTGACTTCTCCTCAGACCACCTGGGCTGTTTCACCAAGTGCCGGAAGCCATGCAGC
GTGACCAGCTACCAGCTCTCTGCTGGTTACTCACGATGGCCCTCGGTGACATCCCAGGAA
TGGGTCTTCCAGATGCTATCGCGACAGAACAATTACACCGTCAACAACAAGAGAAATGGA
GTGGCCAAAGTCAACATCTTCTTCAAGGAGCTGAACTACAAAACCAATTCTGAGTCTCCC
TCTGTCACGATGGTCACCCTCCTGTCCAACCTGGGCAGCCAGTGGAGCCTGTGGTTCGGC
TCCTCGGTGTTGTCTGTGGTGGAGATGGCTGAGCTCGTCTTTGACCTGCTGGTCATCATG
TTCCTCATGCTGCTCCGAAGGTTCCGAAGCCGATACTGGTCTCCAGGCCGAGGGGGCAGG
GGTGCTCAGGAGGTAGCCTCCACCCTGGCATCCTCCCCTCCTTCCCACTTCTGCCCCCAC
CCCATGTCTCTGTCCTTGTCCCAGCCAGGCCCTGCTCCCTCTCCAGCCTTGACAGCCCCT
CCCCCTGCCTATGCCACCCTGGGCCCCCGCCCATCTCCAGGGGGCTCTGCAGGGGCCAGT
TCCTCCACCTGTCCTCTGGGGGGGCCCTGA
|
| Enzyme 25 GenBank Gene ID |
X76180  |
| Enzyme 25 GeneCard ID |
SCNN1A  |
| Enzyme 25 GenAtlas ID |
SCNN1A  |
| Enzyme 25 HGNC ID |
HGNC:10599  |
| Enzyme 25 Chromosome Location |
12 |
| Enzyme 25 Locus |
12p13 |
| Enzyme 25 SNPs |
SNPJam Report  |
| Enzyme 25 General References |
- Voilley N, Lingueglia E, Champigny G, Mattei MG, Waldmann R, Lazdunski M, Barbry P: The lung amiloride-sensitive Na+ channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning. Proc Natl Acad Sci U S A. 1994 Jan 4;91(1):247-51. [PubMed
]
- McDonald FJ, Snyder PM, McCray PB Jr, Welsh MJ: Cloning, expression, and tissue distribution of a human amiloride-sensitive Na+ channel. Am J Physiol. 1994 Jun;266(6 Pt 1):L728-34. [PubMed
]
- Ludwig M, Bolkenius U, Wickert L, Marynen P, Bidlingmaier F: Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel. Hum Genet. 1998 May;102(5):576-81. [PubMed
]
- Chow YH, Wang Y, Plumb J, O'Brodovich H, Hu J: Hormonal regulation and genomic organization of the human amiloride-sensitive epithelial sodium channel alpha subunit gene. Pediatr Res. 1999 Aug;46(2):208-14. [PubMed
]
- Thomas CP, Auerbach S, Stokes JB, Volk KA: 5' heterogeneity in epithelial sodium channel alpha-subunit mRNA leads to distinct NH2-terminal variant proteins. Am J Physiol. 1998 May;274(5 Pt 1):C1312-23. [PubMed
]
- Mick VE, Itani OA, Loftus RW, Husted RF, Schmidt TJ, Thomas CP: The alpha-subunit of the epithelial sodium channel is an aldosterone-induced transcript in mammalian collecting ducts, and this transcriptional response is mediated via distinct cis-elements in the 5'-flanking region of the gene. Mol Endocrinol. 2001 Apr;15(4):575-88. [PubMed
]
- Tucker JK, Tamba K, Lee YJ, Shen LL, Warnock DG, Oh Y: Cloning and functional studies of splice variants of the alpha-subunit of the amiloride-sensitive Na+ channel. Am J Physiol. 1998 Apr;274(4 Pt 1):C1081-9. [PubMed
]
- Pirozzi G, McConnell SJ, Uveges AJ, Carter JM, Sparks AB, Kay BK, Fowlkes DM: Identification of novel human WW domain-containing proteins by cloning of ligand targets. J Biol Chem. 1997 Jun 6;272(23):14611-6. [PubMed
]
- McDonald FJ, Western AH, McNeil JD, Thomas BC, Olson DR, Snyder PM: Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel. Am J Physiol Renal Physiol. 2002 Sep;283(3):F431-6. [PubMed
]
- Arai K, Zachman K, Shibasaki T, Chrousos GP: Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential? J Clin Endocrinol Metab. 1999 Jul;84(7):2434-7. [PubMed
]
- Schaedel C, Marthinsen L, Kristoffersson AC, Kornfalt R, Nilsson KO, Orlenius B, Holmberg L: Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. J Pediatr. 1999 Dec;135(6):739-45. [PubMed
]
|
| Enzyme 25 Metabolite References |
Not Available |
|
Enzyme 26
[top]
|
| Enzyme 26 ID |
7764 |
| Enzyme 26 Name |
Sodium- and chloride-dependent GABA transporter 3 |
| Enzyme 26 Synonyms |
Not Available |
| Enzyme 26 Gene Name |
SLC6A11 |
| Enzyme 26 Protein Sequence |
>Sodium- and chloride-dependent GABA transporter 3
MTAEKALPLGNGKAAEEARESEAPGGGCSSGGAAPARHPRVKRDKAVHERGHWNNKVEFV
LSVAGEIIGLGNVWRFPYLCYKNGGGAFLIPYVVFFICCGIPVFFLETALGQFTSEGGIT
CWRKVCPLFEGIGYATQVIEAHLNVYYIIILAWAIFYLSNCFTTELPWATCGHEWNTENC
VEFQKLNVSNYSHVSLQNATSPVMEFWEHRVLAISDGIEHIGNLRWELALCLLAAWTICY
FCIWKGTKSTGKVVYVTATFPYIMLLILLIRGVTLPGASEGIKFYLYPDLSRLSDPQVWV
DAGTQIFFSYAICLGCLTALGSYNNYNNNCYRDCIMLCCLNSGTSFVAGFAIFSVLGFMA
YEQGVPIAEVAESGPGLAFIAYPKAVTMMPLSPLWATLFFMMLIFLGLDSQFVCVESLVT
AVVDMYPKVFRRGYRRELLILALSVISYFLGLVMLTEGGMYIFQLFDSYAASGMCLLFVA
IFECICIGWVYGSNRFYDNIEDMIGYRPPSLIKWCWMIMTPGICAGIFIFFLIKYKPLKY
NNIYTYPAWGYGIGWLMALSSMLCIPLWICITVWKTEGTLPEKLQKLTTPSTDLKMRGKL
GVSPRMVTVNDCDAKLKSDGTIAAITEKETHF
|
| Enzyme 26 Number of Residues |
632 |
| Enzyme 26 Molecular Weight |
70607 |
| Enzyme 26 Theoretical pI |
6.89 |
| Enzyme 26 GO Classification |
| Function |
- gamma-aminobutyric acid:sodium symporter activity
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- organic acid transporter activity
- organic acid:sodium symporter activity
- sodium:amino acid symporter activity
- transporter activity
|
| Process |
- cellular physiological process
- neurotransmitter transport
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 26 General Function |
Not Available |
| Enzyme 26 Specific Function |
Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals |
| Enzyme 26 Pathways |
Not Available |
| Enzyme 26 Reactions |
Not Available |
| Enzyme 26 Pfam Domain Function |
|
| Enzyme 26 Signals |
|
| Enzyme 26 Transmembrane Regions |
- 59-79
87-106
131-151
226-244
253-270
306-323
335-356
389-408
438-456
473-493
514-533
553-571
|
| Enzyme 26 Essentiality |
Not Available |
| Enzyme 26 GenBank ID Protein |
913242  |
| Enzyme 26 UniProtKB/Swiss-Prot ID |
P48066  |
| Enzyme 26 UniProtKB/Swiss-Prot Entry Name |
S6A11_HUMAN  |
| Enzyme 26 PDB ID |
Not Available |
| Enzyme 26 Cellular Location |
Not Available |
| Enzyme 26 Gene Sequence |
>1899 bp
ATGACGGCGGAGAAGGCGCTGCCCCTGGGCAATGGGAAGGCTGCTGAGGAGGCGCGGGAG
TCCGAGGCGCCGGGTGGCGGCTGCAGCAGCGGGGGCGCGGCGCCCGCGCGCCACCCGCGC
GTCAAGCGCGACAAGGCGGTCCACGAGCGCGGCCACTGGAACAACAAGGTGGAGTTCGTG
CTGAGCGTGGCCGGGGAGATCATTGGGCTGGGCAACGTGTGGCGCTTCCCCTACCTGTGC
TACAAGAACGGAGGAGGGGCATTCCTGATTCCCTACGTGGTGTTTTTTATTTGCTGTGGA
ATTCCTGTTTTTTTCCTGGAGACAGCTCTGGGGCAGTTCACAAGTGAAGGTGGCATTACG
TGTTGGAGGAAAGTTTGCCCTTTATTTGAAGGCATTGGCTATGCAACACAGGTGATTGAG
GCCCATCTGAATGTGTACTACATCATCATCCTGGCATGGGCCATTTTTTACCTGAGCAAC
TGCTTCACTACTGAGCTACCCTGGGCTACCTGTGGGCATGAGTGGAACACAGAGAATTGT
GTGGAGTTCCAGAAACTGAATGTGAGCAACTACAGCCATGTGTCTCTGCAGAATGCCACC
TCCCCTGTCATGGAGTTTTGGGAGCACCGGGTCCTGGCCATCTCTGACGGGATCGAGCAC
ATCGGGAACCTTCGCTGGGAGCTGGCCTTGTGTCTCTTGGCAGCCTGGACCATCTGTTAC
TTCTGTATCTGGAAGGGGACCAAGTCTACAGGAAAGGTTGTATACGTGACTGCGACATTC
CCCTACATCATGCTGCTGATCCTCCTGATACGAGGGGTCACGTTGCCCGGGGCCTCAGAG
GGCATCAAGTTCTACTTGTACCCTGACCTCTCCCGGCTCTCCGACCCCCAGGTCTGGGTA
GATGCTGGAACGCAGATCTTTTTCTCCTATGCCATTTGCCTGGGCTGTCTGACCGCTCTG
GGAAGTTATAACAATTATAACAACAACTGCTACAGGGACTGCATCATGCTCTGTTGCCTG
AACAGCGGCACCAGCTTCGTGGCTGGGTTTGCCATCTTCTCAGTCCTGGGTTTTATGGCG
TACGAGCAGGGGGTACCCATTGCTGAGGTGGCAGAGTCAGGCCCCGGCCTGGCCTTTATT
GCGTACCCCAAGGCGGTCACCATGATGCCTCTCTCCCCGCTGTGGGCCACCTTGTTCTTC
ATGATGCTCATCTTCCTGGGCCTGGACAGCCAGTTTGTGTGTGTGGAAAGCCTGGTGACC
GCCGTGGTGGACATGTACCCCAAGGTTTTCCGGAGGGGTTACCGGCGGGAGCTGCTCATC
CTAGCCTTGTCTGTTATCTCCTATTTTCTGGGCCTCGTGATGTTAACAGAGGGTGGCATG
TACATCTTCCAGCTCTTTGACTCCTATGCCGCCAGTGGGATGTGCCTTCTCTTCGTGGCC
ATCTTTGAGTGCATCTGCATCGGCTGGGTGTATGGAAGCAACCGGTTCTATGATAACATT
GAAGACATGATTGGCTACCGGCCACCGTCGCTCATTAAGTGGTGCTGGATGATCATGACC
CCTGGGATCTGCGCGGGGATCTTCATCTTCTTCTTGATCAAGTACAAGCCACTCAAGTAC
AACAACATCTACACCTACCCAGCCTGGGGCTATGGCATTGGCTGGCTCATGGCCCTGTCC
TCCATGCTCTGCATCCCGCTCTGGATCTGCATCACAGTGTGGAAGACGGAGGGGACACTG
CCCGAGAAACTCCAGAAGTTGACGACCCCCAGCACAGATCTGAAAATGCGGGGCAAGCTT
GGGGTGAGCCCACGGATGGTGACAGTTAATGACTGTGATGCCAAACTCAAGAGTGACGGG
ACCATCGCAGCCATCACAGAGAAGGAGACGCACTTCTGA
|
| Enzyme 26 GenBank Gene ID |
S75989  |
| Enzyme 26 GeneCard ID |
SLC6A11  |
| Enzyme 26 GenAtlas ID |
SLC6A11  |
| Enzyme 26 HGNC ID |
HGNC:11044  |
| Enzyme 26 Chromosome Location |
3 |
| Enzyme 26 Locus |
3p25.3 |
| Enzyme 26 SNPs |
SNPJam Report  |
| Enzyme 26 General References |
- Borden LA, Dhar TG, Smith KE, Branchek TA, Gluchowski C, Weinshank RL: Cloning of the human homologue of the GABA transporter GAT-3 and identification of a novel inhibitor with selectivity for this site. Receptors Channels. 1994;2(3):207-13. [PubMed
]
|
| Enzyme 26 Metabolite References |
Not Available |
|
Enzyme 27
[top]
|
| Enzyme 27 ID |
7822 |
| Enzyme 27 Name |
P3 protein |
| Enzyme 27 Synonyms |
- Solute carrier family 10 member 3
|
| Enzyme 27 Gene Name |
SLC10A3 |
| Enzyme 27 Protein Sequence |
>P3 protein
MVLMQDKGSSQQWPGLGGEGGGTGPLSMLRAALLLISLPWGAQGTASTSLSTAGGHTVPP
TGGRYLSIGDGSVMEFEFPEDSEGIIVISSQYPGQANRTAPGPMLRVTSLDTEVLTIKNV
SAITWGGGGGFVVSIHSGLAGLAPLHIQLVDAHEAPPTLIEERRDFCIKVSPAEDTPATL
SADLAHFSENPILYLLLPLIFVNKCSFGCKVELEVLKGLMQSPQPMLLGLLGQFLVMPLY
AFLMAKVFMLPKALALGLIITCSSPGGGGSYLFSLLLGGDVTLAISMTFLSTVAATGFLP
LSSAIYSRLLSIHETLHVPISKILGTLLFIAIPIAVGVLIKSKLPKFSQLLLQVVKPFSF
VLLLGGLFLAYRMGVFILAGIRLPIVLVGITVPLVGLLVGYCLATCLKLPVAQRRTVSIE
VGVQNSLLALAMLQLSLRRLQADYASQAPFIVALSGTSEMLALVIGHFIYSSLFPVP
|
| Enzyme 27 Number of Residues |
477 |
| Enzyme 27 Molecular Weight |
50334 |
| Enzyme 27 Theoretical pI |
7.86 |
| Enzyme 27 GO Classification |
| Function |
- bile acid:sodium symporter activity
- organic acid transporter activity
- organic acid:sodium symporter activity
- transporter activity
|
| Process |
- anion transport
- cation transport
- cellular physiological process
- ion transport
- monovalent inorganic cation transport
- organic anion transport
- physiological process
- sodium ion transport
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 27 General Function |
Not Available |
| Enzyme 27 Specific Function |
The ubiquitous expression and the conservation of the sequence in distant animal species suggest that the gene codes for a protein with housekeeping functions |
| Enzyme 27 Pathways |
Not Available |
| Enzyme 27 Reactions |
Not Available |
| Enzyme 27 Pfam Domain Function |
|
| Enzyme 27 Signals |
|
| Enzyme 27 Transmembrane Regions |
- 225-245
253-273
281-301
320-340
361-381
383-403
417-437
450-470
|
| Enzyme 27 Essentiality |
Not Available |
| Enzyme 27 GenBank ID Protein |
35188  |
| Enzyme 27 UniProtKB/Swiss-Prot ID |
P09131  |
| Enzyme 27 UniProtKB/Swiss-Prot Entry Name |
P3_HUMAN  |
| Enzyme 27 PDB ID |
Not Available |
| Enzyme 27 Cellular Location |
Not Available |
| Enzyme 27 Gene Sequence |
>1434 bp
ATGGTGTTAATGCAGGACAAGGGCAGCTCTCAGCAGTGGCCTGGTCTGGGGGGCGAGGGT
GGTGGCACAGGTCCCTTAAGCATGCTCAGAGCTGCCCTGCTGCTCATCAGCCTGCCATGG
GGGGCCCAAGGGACAGCCAGCACCAGCCTCAGCACTGCTGGGGGTCACACCGTGCCACCG
ACTGGGGGCCGCTACTTGAGCATTGGAGATGGCTCTGTGATGGAGTTTGAGTTTCCTGAG
GACAGTGAGGGCATCATCGTGATCTCCAGCCAGTACCCAGGCCAGGCCAACAGGACGGCG
CCTGGCCCCATGCTCAGGGTCACCTCCCTGGACACAGAGGTGCTGACCATCAAGAACGTG
AGTGCTATAACCTGGGGAGGCGGGGGTGGCTTTGTGGTGAGCATCCACTCAGGCCTGGCT
GGGCTGGCCCCACTCCACATCCAGCTCGTGGACGCCCATGAGGCCCCGCCCACACTGATT
GAGGAGCGGAGAGACTTCTGCATCAAGGTCTCACCTGCTGAAGACACGCCTGCCACCCTC
AGCGCCGACCTGGCCCACTTCTCGGAAAACCCAATCCTCTACCTGCTCCTGCCTCTTATC
TTTGTCAACAAGTGTTCGTTTGGGTGCAAAGTGGAACTCGAGGTTCTGAAGGGGCTCATG
CAGAGCCCCCAGCCCATGCTGCTGGGCCTCCTGGGCCAGTTTCTGGTCATGCCCTTGTAC
GCTTTCCTCATGGCCAAGGTCTTCATGCTGCCCAAGGCCCTGGCTCTGGGCCTCATCATC
ACCTGCTCGTCGCCTGGCGGCGGGGGGAGCTACCTCTTCAGCCTCCTTCTTGGAGGGGAC
GTCACCCTGGCCATCTCCATGACTTTCCTCTCTACGGTGGCTGCCACTGGCTTCTTGCCT
CTGTCTTCGGCCATCTACAGCCGCCTGCTCAGCATCCATGAGACGCTCCACGTGCCCATC
TCCAAGATCCTGGGGACCCTGCTGTTCATTGCCATCCCCATAGCCGTGGGCGTGCTGATC
AAGTCCAAGCTCCCCAAGTTCTCCCAGCTGCTGCTGCAGGTCGTCAAGCCCTTCAGCTTT
GTGCTCCTCCTGGGCGGCCTCTTCCTGGCCTATCGCATGGGGGTCTTCATCCTGGCAGGC
ATCCGGCTACCCATCGTACTGGTGGGTATCACGGTGCCCCTGGTTGGCCTGTTGGTGGGC
TACTGCCTAGCCACGTGTCTGAAGCTGCCAGTGGCCCAGCGGCGGACGGTCAGCATTGAG
GTAGGGGTGCAGAACAGCCTGCTGGCCTTGGCCATGCTGCAGCTATCCCTCCGCCGCCTT
CAAGCTGACTATGCCTCCCAGGCCCCCTTCATTGTGGCGCTGAGCGGCACCTCCGAGATG
CTGGCCTTGGTCATTGGCCACTTCATCTACAGCAGCCTGTTCCCAGTTCCCTGA
|
| Enzyme 27 GenBank Gene ID |
X12458  |
| Enzyme 27 GeneCard ID |
SLC10A3  |
| Enzyme 27 GenAtlas ID |
SLC10A3  |
| Enzyme 27 HGNC ID |
HGNC:22979  |
| Enzyme 27 Chromosome Location |
X |
| Enzyme 27 Locus |
Xq28 |
| Enzyme 27 SNPs |
SNPJam Report  |
| Enzyme 27 General References |
- Alcalay M, Toniolo D: CpG islands of the X chromosome are gene associated. Nucleic Acids Res. 1988 Oct 25;16(20):9527-43. [PubMed
]
- Chen EY, Zollo M, Mazzarella R, Ciccodicola A, Chen CN, Zuo L, Heiner C, Burough F, Repetto M, Schlessinger D, D'Urso M: Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. Hum Mol Genet. 1996 May;5(5):659-68. [PubMed
]
|
| Enzyme 27 Metabolite References |
Not Available |
|
Enzyme 28
[top]
|
| Enzyme 28 ID |
7854 |
| Enzyme 28 Name |
Equilibrative nucleoside transporter 1 |
| Enzyme 28 Synonyms |
- Equilibrative nitrobenzylmercaptopurine riboside-sensitive nucleoside transporter
- Equilibrative NBMPR-sensitive nucleoside transporter
- Nucleoside transporter, es-type
- Solute carrier family 29 member 1
|
| Enzyme 28 Gene Name |
SLC29A1 |
| Enzyme 28 Protein Sequence |
>Equilibrative nucleoside transporter 1
MTTSHQPQDRYKAVWLIFFMLGLGTLLPWNFFMTATQYFTNRLDMSQNVSLVTAELSKDA
QASAAPAAPLPERNSLSAIFNNVMTLCAMLPLLLFTYLNSFLHQRIPQSVRILGSLVAIL
LVFLITAILVKVQLDALPFFVITMIKIVLINSFGAILQGSLFGLAGLLPASYTAPIMSGQ
GLAGFFASVAMICAIASGSELSESAFGYFITACAVIILTIICYLGLPRLEFYRYYQQLKL
EGPGEQETKLDLISKGEEPRAGKEESGVSVSNSQPTNESHSIKAILKNISVLAFSVCFIF
TITIGMFPAVTVEVKSSIAGSSTWERYFIPVSCFLTFNIFDWLGRSLTAVFMWPGKDSRW
LPSLVLARLVFVPLLLLCNIKPRRYLTVVFEHDAWFIFFMAAFAFSNGYLASLCMCFGPK
KVKPAEAETAGAIMAFFLCLGLALGAVFSFLFRAIV
|
| Enzyme 28 Number of Residues |
456 |
| Enzyme 28 Molecular Weight |
50220 |
| Enzyme 28 Theoretical pI |
8.39 |
| Enzyme 28 GO Classification |
| Function |
- nucleobase, nucleoside, nucleotide and nucleic acid transporter activity
- nucleoside transporter activity
- transporter activity
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
|
|
| Enzyme 28 General Function |
Not Available |
| Enzyme 28 Specific Function |
Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). It is sensitive (ES) to low concentrations of the inhibitor nitrobenzylmercaptopurine riboside (NBMPR) and is sodium-independent. It has a higher affinity for adenosine. Inhibited by dipyridamole and dilazep (anticancer chemotherapeutics drugs) |
| Enzyme 28 Pathways |
Not Available |
| Enzyme 28 Reactions |
Not Available |
| Enzyme 28 Pfam Domain Function |
|
| Enzyme 28 Signals |
|
| Enzyme 28 Transmembrane Regions |
Not Available |
| Enzyme 28 Essentiality |
Not Available |
| Enzyme 28 GenBank ID Protein |
1845345  |
| Enzyme 28 UniProtKB/Swiss-Prot ID |
Q99808  |
| Enzyme 28 UniProtKB/Swiss-Prot Entry Name |
S29A1_HUMAN  |
| Enzyme 28 PDB ID |
Not Available |
| Enzyme 28 Cellular Location |
Not Available |
| Enzyme 28 Gene Sequence |
>1371 bp
ATGACAACCAGTCACCAGCCTCAGGACAGATACAAAGCTGTCTGGCTTATCTTCTTCATG
CTGGGTCTGGGAACGCTGCTCCCGTGGAATTTTTTCATGACGGCCACTCAGTATTTCACA
AACCGCCTGGACATGTCCCAGAATGTGTCCTTGGTCACTGCTGAACTGAGCAAGGACGCC
CAGGCGTCAGCCGCCCCTGCAGCACCCTTGCCTGAGCGGAACTCTCTCAGTGCCATCTTC
AACAATGTCATGACCCTATGTGCCATGCTGCCCCTGCTGTTATTCACCTACCTCAACTCC
TTCCTGCATCAGAGGATCCCCCAGTCCGTACGGATCCTGGGCAGCCTGGTGGCCATCCTG
CTGGTGTTTCTGATCACTGCCATCCTGGTGAAGGTGCAGCTGGATGCTCTGCCCTTCTTT
GTCATCACCATGATCAAGATCGTGCTCATTAATTCATTTGGTGCCATCCTGCAGGGCAGC
CTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGCTACACGGCCCCCATCATGAGTGGCCAG
GGCCTAGCAGGCTTCTTTGCCTCCGTGGCCATGATCTGCGCTATTGCCAGTGGCTCGGAA
CTATCAGAAAGTGCCTTCGGCTACTTTATCACAGCCTGTGCTGTTATCATTTTGACCATC
ATCTGTTACCTGGGCCTGCCCCGCCTGGAATTCTACCGCTACTACCAGCAGCTCAAGCTT
GAAGGACCCGGGGAGCAGGAGACCAAGTTGGACCTCATTAGCAAAGGAGAGGAGCCAAGA
GCAGGCAAAGAGGAATCTGGAGTTTCAGTCTCCAACTCTCAGCCCACCAATGAAAGCCAC
TCTATCAAAGCCATCCTGAAAAATATCTCAGTCCTGGCTTTCTCTGTCTGCTTCATCTTC
ACTATCACCATTGGGATGTTTCCAGCCGTGACTGTTGAGGTCAAGTCCAGCATCGCAGGC
AGCAGCACCTGGGAACGTTACTTCATTCCTGTGTCCTGTTTCTTGACTTTCAATATCTTT
GACTGGTTGGGCCGGAGCCTCACAGCTGTATTCATGTGGCCTGGGAAGGACAGCCGCTGG
CTGCCAAGCCTGGTGCTGGCCCGGCTGGTGTTTGTGCCACTGCTGCTGCTGTGCAACATT
AAGCCCCGCCGCTACCTGACTGTGGTCTTCGAGCACGATGCCTGGTTCATCTTCTTCATG
GCTGCCTTTGCCTTCTCCAACGGCTACCTCGCCAGCCTCTGCATGTGCTTCGGGCCCAAG
AAAGTGAAGCCAGCTGAGGCAGAGACCGCAGGAGCCATCATGGCCTTCTTCCTGTGTCTG
GGTCTGGCACTGGGGGCTGTTTTCTCCTTCCTGTTCCGGGCAATTGTGTGA
|
| Enzyme 28 GenBank Gene ID |
U81375  |
| Enzyme 28 GeneCard ID |
SLC29A1  |
| Enzyme 28 GenAtlas ID |
SLC29A1  |
| Enzyme 28 HGNC ID |
HGNC:11003  |
| Enzyme 28 Chromosome Location |
6 |
| Enzyme 28 Locus |
6p21.2-p21.1 |
| Enzyme 28 SNPs |
SNPJam Report  |
| Enzyme 28 General References |
- Griffiths M, Beaumont N, Yao SY, Sundaram M, Boumah CE, Davies A, Kwong FY, Coe I, Cass CE, Young JD, Baldwin SA: Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs. Nat Med. 1997 Jan;3(1):89-93. [PubMed
]
- Lum PY, Ngo LY, Bakken AH, Unadkat JD: Human intestinal es nucleoside transporter: molecular characterization and nucleoside inhibitory profiles. Cancer Chemother Pharmacol. 2000;45(4):273-8. [PubMed
]
- Sankar N, Machado J, Abdulla P, Hilliker AJ, Coe IR: Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity. Nucleic Acids Res. 2002 Oct 15;30(20):4339-50. [PubMed
]
|
| Enzyme 28 Metabolite References |
Not Available |
|
Enzyme 29
[top]
|
| Enzyme 29 ID |
7869 |
| Enzyme 29 Name |
High-affinity choline transporter 1 |
| Enzyme 29 Synonyms |
- Solute carrier family 5 member 7
- Hemicholinium-3-sensitive choline transporter
- CHT
|
| Enzyme 29 Gene Name |
SLC5A7 |
| Enzyme 29 Protein Sequence |
>High-affinity choline transporter 1
MAFHVEGLIAIIVFYLLILLVGIWAAWRTKNSGSAEERSEAIIVGGRDIGLLVGGFTMTA
TWVGGGYINGTAEAVYVPGYGLAWAQAPIGYSLSLILGGLFFAKPMRSKGYVTMLDPFQQ
IYGKRMGGLLFIPALMGEMFWAAAIFSALGATISVIIDVDMHISVIISALIATLYTLVGG
LYSVAYTDVVQLFCIFVGLWISVPFALSHPAVADIGFTAVHAKYQKPWLGTVDSSEVYSW
LDSFLLLMLGGIPWQAYFQRVLSSSSATYAQVLSFLAAFGCLVMAIPAILIGAIGASTDW
NQTAYGLPDPKTTEEADMILPIVLQYLCPVYISFFGLGAVSAAVMSSADSSILSASSMFA
RNIYQLSFRQNASDKEIVWVMRITVFVFGASATAMALLTKTVYGLWYLSSDLVYIVIFPQ
LLCVLFVKGTNTYGAVAGYVSGLFLRITGGEPYLYLQPLIFYPGYYPDDNGIYNQKFPFK
TLAMVTSFLTNICISYLAKYLFESGTLPPKLDVFDAVVARHSEENMDKTILVKNENIKLD
ELALVKPRQSMTLSSTFTNKEAFLDVDSSPEGSGTEDNLQ
|
| Enzyme 29 Number of Residues |
580 |
| Enzyme 29 Molecular Weight |
63204 |
| Enzyme 29 Theoretical pI |
4.77 |
| Enzyme 29 GO Classification |
| Function |
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
|
|
| Enzyme 29 General Function |
Amino acid transport and metabolism |
| Enzyme 29 Specific Function |
Imports choline from the extracellular space to the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion- dependent |
| Enzyme 29 Pathways |
Not Available |
| Enzyme 29 Reactions |
Not Available |
| Enzyme 29 Pfam Domain Function |
|
| Enzyme 29 Signals |
|
| Enzyme 29 Transmembrane Regions |
Not Available |
| Enzyme 29 Essentiality |
Not Available |
| Enzyme 29 GenBank ID Protein |
10998442  |
| Enzyme 29 UniProtKB/Swiss-Prot ID |
Q9GZV3  |
| Enzyme 29 UniProtKB/Swiss-Prot Entry Name |
SC5A7_HUMAN  |
| Enzyme 29 PDB ID |
Not Available |
| Enzyme 29 Cellular Location |
Not Available |
| Enzyme 29 Gene Sequence |
>1743 bp
ATGGCTTTCCATGTGGAAGGACTGATAGCTATCATCGTGTTCTACCTTCTAATTTTGCTG
GTTGGAATATGGGCTGCCTGGAGAACCAAAAACAGTGGCAGCGCAGAAGAGCGCAGCGAA
GCCATCATAGTTGGTGGCCGAGATATTGGTTTATTGGTTGGTGGATTTACCATGACAGCT
ACCTGGGTCGGAGGAGGGTATATCAATGGCACAGCTGAAGCAGTTTATGTACCAGGTTAT
GGCCTAGCTTGGGCTCAGGCACCAATTGGATATTCTCTTAGTCTGATTTTAGGTGGCCTG
TTCTTTGCAAAACCTATGCGTTCAAAGGGGTATGTGACCATGTTAGACCCGTTTCAGCAA
ATCTATGGAAAACGCATGGGCGGACTCCTGTTTATTCCTGCACTGATGGGAGAAATGTTC
TGGGCTGCAGCAATTTTCTCTGCTTTGGGAGCCACCATCAGCGTGATCATCGATGTGGAT
ATGCACATTTCTGTCATCATCTCTGCACTCATTGCCACTCTGTACACACTGGTGGGAGGG
CTCTATTCTGTGGCCTACACTGATGTCGTTCAGCTCTTTTGCATTTTTGTAGGGCTGTGG
ATCAGCGTCCCCTTTGCATTGTCACATCCTGCAGTCGCAGACATCGGGTTCACTGCTGTG
CATGCCAAATACCAAAAGCCGTGGCTGGGAACTGTTGACTCATCTGAAGTCTACTCTTGG
CTTGATAGTTTTCTGTTGTTGATGCTGGGTGGAATCCCATGGCAAGCATACTTTCAGAGG
GTTCTCTCTTCTTCCTCAGCCACCTATGCTCAAGTGCTGTCCTTCCTGGCAGCTTTCGGG
TGCCTGGTGATGGCCATCCCAGCCATACTCATTGGGGCCATTGGAGCATCAACAGACTGG
AACCAGACTGCATATGGGCTTCCAGATCCCAAGACTACAGAAGAGGCAGACATGATTTTA
CCAATTGTTCTGCAGTATCTCTGCCCTGTGTATATTTCTTTCTTTGGTCTTGGTGCAGTT
TCTGCTGCTGTTATGTCATCAGCAGATTCTTCCATCTTGTCAGCAAGTTCCATGTTTGCA
CGGAACATCTACCAGCTTTCCTTCAGACAAAATGCTTCGGACAAAGAAATCGTTTGGGTT
ATGCGAATCACAGTGTTTGTGTTTGGAGCATCTGCAACAGCCATGGCCTTGCTGACGAAA
ACTGTGTATGGGCTCTGGTACCTCAGTTCTGACCTTGTTTACATCGTTATCTTCCCCCAG
CTGCTTTGTGTACTCTTTGTTAAGGGAACCAACACCTATGGGGCCGTGGCAGGTTATGTT
TCTGGCCTCTTCCTGAGAATAACTGGAGGGGAGCCATATCTGTATCTTCAGCCCTTGATC
TTCTACCCTGGCTATTACCCTGATGATAATGGTATATATAATCAGAAATTTCCATTTAAA
ACACTTGCCATGGTTACATCATTCTTAACCAACATTTGCATCTCCTATCTAGCCAAGTAT
CTATTTGAAAGTGGAACCTTGCCACCTAAATTAGATGTATTTGATGCTGTTGTTGCAAGA
CACAGTGAAGAAAACATGGATAAGACAATTCTTGTCAAAAATGAAAATATTAAATTAGAT
GAACTTGCACTTGTGAAGCCACGACAGAGCATGACCCTCAGCTCAACTTTCACCAATAAA
GAGGCCTTCCTTGATGTTGATTCCAGTCCAGAAGGGTCTGGGACTGAAGATAATTTACAG
TGA
|
| Enzyme 29 GenBank Gene ID |
AF276871  |
| Enzyme 29 GeneCard ID |
SLC5A7  |
| Enzyme 29 GenAtlas ID |
SLC5A7  |
| Enzyme 29 HGNC ID |
HGNC:14025  |
| Enzyme 29 Chromosome Location |
2 |
| Enzyme 29 Locus |
2q12 |
| Enzyme 29 SNPs |
SNPJam Report  |
| Enzyme 29 General References |
- Apparsundaram S, Ferguson SM, George AL Jr, Blakely RD: Molecular cloning of a human, hemicholinium-3-sensitive choline transporter. Biochem Biophys Res Commun. 2000 Oct 5;276(3):862-7. [PubMed
]
- Okuda T, Haga T: Functional characterization of the human high-affinity choline transporter. FEBS Lett. 2000 Nov 3;484(2):92-7. [PubMed
]
|
| Enzyme 29 Metabolite References |
Not Available |
|
Enzyme 30
[top]
|
| Enzyme 30 ID |
7884 |
| Enzyme 30 Name |
Large neutral amino acids transporter small subunit 2 |
| Enzyme 30 Synonyms |
- L-type amino acid transporter 2
- hLAT2
|
| Enzyme 30 Gene Name |
SLC7A8 |
| Enzyme 30 Protein Sequence |
>Large neutral amino acids transporter small subunit 2
MEEGARHRNNTEKKHPGGGESDASPEAGSGGGGVALKKEIGLVSACGIIVGNIIGSGIFV
SPKGVLENAGSVGLALIVWIVTGFITVVGALCYAELGVTIPKSGGDYSYVKDIFGGLAGF
LRLWIAVLVIYPTNQAVIALTFSNYVLQPLFPTCFPPESGLRLLAAICLLLLTWVNCSSV
RWATRVQDIFTAGKLLALALIIIMGIVQICKGEYFWLEPKNAFENFQEPDIGLVALAFLQ
GSFAYGGWNFLNYVTEELVDPYKNLPRAIFISIPLVTFVYVFANVAYVTAMSPQELLASN
AVAVTFGEKLLGVMAWIMPISVALSTFGGVNGSLFTSSRLFFAGAREGHLPSVLAMIHVK
RCTPIPALLFTCISTLLMLVTSDMYTLINYVGFINYLFYGVTVAGQIVLRWKKPDIPRPI
KINLLFPIIYLLFWAFLLVFSLWSEPVVCGIGLAIMLTGVPVYFLGVYWQHKPKCFSDFI
ELLTLVSQKMCVVVYPEVERGSGTEEANEDMEEQQQPMYQPTPTKDKDVAGQPQP
|
| Enzyme 30 Number of Residues |
535 |
| Enzyme 30 Molecular Weight |
58382 |
| Enzyme 30 Theoretical pI |
5.75 |
| Enzyme 30 GO Classification |
| Function |
- amine transporter activity
- amino acid permease activity
- amino acid transporter activity
- amino acid-polyamine transporter activity
- transporter activity
|
| Process |
- amine transport
- amino acid transport
- cellular physiological process
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 30 General Function |
Amino acid transport and metabolism |
| Enzyme 30 Specific Function |
Sodium-independent, high-affinity transport of large neutral amino acids. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of neutral amino acids |
| Enzyme 30 Pathways |
Not Available |
| Enzyme 30 Reactions |
Not Available |
| Enzyme 30 Pfam Domain Function |
|
| Enzyme 30 Signals |
|
| Enzyme 30 Transmembrane Regions |
- 40-60
72-92
113-133
155-175
189-209
231-251
268-288
310-330
362-382
388-408
424-444
447-467
|
| Enzyme 30 Essentiality |
Not Available |
| Enzyme 30 GenBank ID Protein |
6642960  |
| Enzyme 30 UniProtKB/Swiss-Prot ID |
Q9UHI5  |
| Enzyme 30 UniProtKB/Swiss-Prot Entry Name |
LAT2_HUMAN  |
| Enzyme 30 PDB ID |
Not Available |
| Enzyme 30 Cellular Location |
Not Available |
| Enzyme 30 Gene Sequence |
>1608 bp
ATGGAAGAAGGAGCCAGGCACCGAAACAACACCGAAAAGAAACACCCAGGTGGGGGCGAG
TCGGACGCCAGCCCCGAGGCTGGTTCCGGAGGGGGCGGAGTAGCCCTGAAGAAAGAGATC
GGATTGGTCAGTGCCTGTGGTATCATCGTAGGGAACATCATCGGCTCTGGAATCTTTGTC
TCGCCAAAGGGAGTGCTGGAGAATGCTGGTTCTGTGGGCCTTGCTCTCATCGTCTGGATT
GTGACGGGCTTCATCACAGTTGTGGGAGCCCTCTGCTATGCTGAACTCGGGGTCACCATC
CCCAAATCTGGAGGTGACTACTCCTATGTCAAGGACATCTTCGGAGGACTGGCTGGGTTC
CTGAGGCTGTGGATTGCTGTGCTGGTGATCTACCCCACCAACCAGGCTGTCATCGCCCTC
ACCTTCTCCAACTACGTGCTGCAGCCGCTCTTCCCCACCTGCTTCCCCCCAGAGTCTGGC
CTTCGGCTCCTGGCTGCCATCTGCTTATTGCTCCTCACATGGGTCAACTGTTCCAGTGTG
CGGTGGGCCACCCGGGTTCAAGACATCTTCACAGCTGGGAAGCTCCTGGCCTTGGCCCTG
ATTATCATCATGGGGATTGTACAGATATGCAAAGGAGAGTACTTCTGGCTGGAGCCAAAG
AATGCATTTGAGAATTTCCAGGAACCTGACATCGGCCTCGTCGCACTGGCTTTCCTTCAG
GGCTCCTTTGCCTATGGAGGCTGGAACTTTCTGAATTACGTGACTGAGGAGCTTGTTGAT
CCCTACAAGAACCTTCCCAGAGCCATCTTCATCTCCATCCCACTGGTCACATTTGTGTAT
GTCTTTGCCAATGTCGCTTATGTCACTGCAATGTCCCCCCAGGAGCTGCTGGCATCCAAC
GCCGTCGCTGTGACTTTTGGAGAGAAGCTCCTAGGAGTCATGGCCTGGATCATGCCCATT
TCTGTTGCCCTGTCCACATTTGGAGGAGTTAATGGGTCTCTCTTCACCTCCTCTCGGCTG
TTCTTCGCTGGAGCCCGAGAGGGCCACCTTCCCAGTGTGTTGGCCATGATCCACGTGAAG
CGCTGCACCCCAATCCCAGCCCTGCTCTTCACATGCATCTCCACCCTGCTGATGCTGGTC
ACCAGCGACATGTACACACTCATCAACTACGTGGGCTTCATCAACTACCTCTTCTATGGG
GTCACGGTTGCTGGACAGATAGTCCTTCGCTGGAAGAAGCCTGATATCCCCCGCCCCATC
AAGATCAACCTGCTGTTCCCCATCATCTACTTGCTGTTCTGGGCCTTCCTGCTGGTCTTC
AGCCTGTGGTCAGAGCCGGTGGTGTGTGGCATTGGCCTGGCCATCATGCTGACAGGAGTG
CCTGTCTATTTCCTGGGTGTTTACTGGCAACACAAGCCCAAGTGTTTCAGTGACTTCATT
GAGCTGCTAACCCTGGTGAGCCAGAAGATGTGTGTGGTCGTGTACCCCGAGGTGGAGCGG
GGCTCAGGGACAGAGGAGGCTAATGAGGACATGGAGGAGCAGCAGCAGCCCATGTACCAA
CCCACTCCCACGAAGGACAAGGACGTGGCGGGGCAGCCCCAGCCCTGA
|
| Enzyme 30 GenBank Gene ID |
AF171669  |
| Enzyme 30 GeneCard ID |
SLC7A8  |
| Enzyme 30 GenAtlas ID |
SLC7A8  |
| Enzyme 30 HGNC ID |
HGNC:11066  |
| Enzyme 30 Chromosome Location |
14 |
| Enzyme 30 Locus |
14q11.2 |
| Enzyme 30 SNPs |
SNPJam Report  |
| Enzyme 30 General References |
- Rossier G, Meier C, Bauch C, Summa V, Sordat B, Verrey F, Kuhn LC: LAT2, a new basolateral 4F2hc/CD98-associated amino acid transporter of kidney and intestine. J Biol Chem. 1999 Dec 3;274(49):34948-54. [PubMed
]
- Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G: SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet. 1999 Mar;21(3):297-301. [PubMed
]
- Pineda M, Fernandez E, Torrents D, Estevez R, Lopez C, Camps M, Lloberas J, Zorzano A, Palacin M: Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids. J Biol Chem. 1999 Jul 9;274(28):19738-44. [PubMed
]
|
| Enzyme 30 Metabolite References |
Not Available |
|
Enzyme 31
[top]
|
| Enzyme 31 ID |
7892 |
| Enzyme 31 Name |
Sodium- and chloride-dependent glycine transporter 1 |
| Enzyme 31 Synonyms |
- GlyT1
- GlyT-1
- Solute carrier family 6 member 9
|
| Enzyme 31 Gene Name |
SLC6A9 |
| Enzyme 31 Protein Sequence |
>Sodium- and chloride-dependent glycine transporter 1
MAAAHGPVAPSSPEQVTLLPVQRSFFLPPFSGATPSTSLAESVLKVWHGAYNSGLLPQLM
AQHSLAMAQNGAVPSEATKRDQNLKRGNWGNQIEFVLTSVGYAVGLGNVWRFPYLCYRNG
GGAFMFPYFIMLIFCGIPLFFMELSFGQFASQGCLGVWRISPMFKGVGYGMMVVSTYIGI
YYNVVICIAFYYFFSSMTHVLPWAYCNNPWNTHDCAGVLDASNLTNGSRPAALPSNLSHL
LNHSLQRTSPSEEYWRLYVLKLSDDIGNFGEVRLPLLGCLGVSWLVVFLCLIRGVKSSGK
VVYFTATFPYVVLTILFVRGVTLEGAFDGIMYYLTPQWDKILEAKVWGDAASQIFYSLAC
AWGGLITMASYNKFHNNCYRDSVIISITNCATSVYAGFVIFSILGFMANHLGVDVSRVAD
HGPGLAFVAYPEALTLLPISPLWSLLFFFMLILLGLGTQFCLLETLVTAIVDEVGNEWIL
QKKTYVTLGVAVAGFLLGIPLTSQAGIYWLLLMDNYAASFSLVVISCIMCVAIMYIYGHR
NYFQDIQMMLGFPPPLFFQICWRFVSPAIIFFILVFTVIQYQPITYNHYQYPGWAVAIGF
LMALSSVLCIPLYAMFRLCRTDGDTLLQRLKNATKPSRDWGPALLEHRTGRYAPTIAPSP
EDGFEVQSLHPDKAQIPIVGSNGSSRLQDSRI
|
| Enzyme 31 Number of Residues |
692 |
| Enzyme 31 Molecular Weight |
76825 |
| Enzyme 31 Theoretical pI |
7.74 |
| Enzyme 31 GO Classification |
| Function |
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- organic acid transporter activity
- organic acid:sodium symporter activity
- sodium:amino acid symporter activity
- transporter activity
|
| Process |
- cellular physiological process
- neurotransmitter transport
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 31 General Function |
Not Available |
| Enzyme 31 Specific Function |
Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May play a role in regulation of glycine levels in NMDA receptor-mediated neurotransmission |
| Enzyme 31 Pathways |
Not Available |
| Enzyme 31 Reactions |
Not Available |
| Enzyme 31 Pfam Domain Function |
|
| Enzyme 31 Signals |
|
| Enzyme 31 Transmembrane Regions |
- 95-115
123-142
166-186
274-292
301-318
354-371
383-404
437-456
485-503
519-539
560-579
598-616
|
| Enzyme 31 Essentiality |
Not Available |
| Enzyme 31 GenBank ID Protein |
546769  |
| Enzyme 31 UniProtKB/Swiss-Prot ID |
P48067  |
| Enzyme 31 UniProtKB/Swiss-Prot Entry Name |
SC6A9_HUMAN  |
| Enzyme 31 PDB ID |
Not Available |
| Enzyme 31 Cellular Location |
Not Available |
| Enzyme 31 Gene Sequence |
>2079 bp
ATGGCCGCGGCTCATGGACCTGTGGCCCCCTCTTCCCCAGAACAGGTGACGCTTCTCCCT
GTTCAGAGATCCTTCTTCCTGCCACCCTTTTCTGGAGCCACTCCCTCTACTTCCCTAGCA
GAGTCTGTCCTCAAAGTCTGGCATGGGGCCTACAACTCTGGTCTCCTTCCCCAACTCATG
GCCCAGCACTCCCTAGCCATGGCCCAGAATGGTGCTGTGCCCAGCGAGGCCACCAAGAGG
GACCAGAACCTCAAACGGGGCAACTGGGGCAACCAGATCGAGTTTGTACTGACGAGCGTG
GGCTATGCCGTGGGCCTGGGCAATGTCTGGCGCTTCCCATACCTCTGCTATCGCAACGGG
GGAGGCGCCTTCATGTTCCCCTACTTCATCATGCTCATCTTCTGCGGGATCCCCCTCTTC
TTCATGGAGCTCTCCTTCGGCCAGTTTGCAAGCCAGGGGTGCCTGGGGGTCTGGAGGATC
AGCCCCATGTTCAAAGGAGTGGGCTATGGTATGATGGTGGTGTCCACCTACATCGGCATC
TACTACAATGTGGTCATCTGCATCGCCTTCTACTACTTCTTCTCGTCCATGACGCACGTG
CTGCCCTGGGCCTACTGCAATAACCCCTGGAACACGCATGACTGCGCCGGTGTACTGGAC
GCCTCCAACCTCACCAATGGCTCTCGGCCAGCCGCCTTGCCCAGCAACCTCTCCCACCTG
CTCAACCACAGCCTCCAGAGGACCAGCCCCAGCGAGGAGTACTGGAGGCTGTACGTGCTG
AAGCTGTCAGATGACATTGGGAACTTTGGGGAGGTGCGGCTGCCCCTCCTTGGCTGCCTC
GGTGTCTCCTGGTTGGTCGTCTTCCTCTGCCTCATCCGAGGGGTCAAGTCTTCAGGGAAA
GTGGTGTACTTCACGGCCACGTTCCCCTACGTGGTGCTGACCATTCTGTTTGTCCGCGGA
GTGACCCTGGAGGGAGCCTTTGACGGCATCATGTACTACCTAACCCCGCAGTGGGACAAG
ATCCTGGAGGCCAAGGTGTGGGGTGATGCTGCCTCCCAGATCTTCTACTCACTGGCGTGC
GCGTGGGGAGGCCTCATCACCATGGCTTCCTACAACAAGTTCCACAATAACTGTTACCGG
GACAGTGTCATCATCAGCATCACCAACTGTGCCACCAGCGTCTATGCTGGCTTCGTCATC
TTCTCCATCCTCGGCTTCATGGCCAATCACCTGGGCGTGGATGTGTCCCGTGTGGCAGAC
CACGGCCCTGGCCTGGCCTTCGTGGCTTACCCCGAGGCCCTCACACTACTTCCCATCTCC
CCGCTGTGGTCTCTGCTCTTCTTCTTCATGCTTATCCTGCTGGGGCTGGGCACTCAGTTC
TGCCTCCTGGAGACGCTGGTCACAGCCATTGTGGATGAGGTGGGGAATGAGTGGATCCTG
CAGAAAAAGACCTATGTGACCTTGGGCGTGGCTGTGGCTGGCTTCCTGCTGGGCATCCCC
CTCACCAGCCAGGCAGGCATCTATTGGCTGCTGCTGATGGACAACTATGCGGCCAGCTTC
TCCTTGGTGGTCATCTCCTGCATCATGTGTGTGGCCATCATGTACATCTACGGGCACCGG
AACTACTTCCAGGACATCCAGATGATGCTGGGATTCCCACCACCCCTCTTCTTTCAGATC
TGCTGGCGCTTCGTCTCTCCCGCCATCATCTTCTTTATTCTAGTTTTCACTGTGATCCAG
TACCAGCCGATCACCTACAACCACTACCAGTACCCAGGCTGGGCCGTGGCCATTGGCTTC
CTCATGGCTCTGTCCTCCGTCCTCTGCATCCCCCTCTACGCCATGTTCCGGCTCTGCCGC
ACAGACGGGGACACCCTCCTCCAGCGTTTGAAAAATGCCACAAAGCCAAGCAGAGACTGG
GGCCCTGCCCTCCTGGAGCACCGGACAGGGCGCTACGCCCCCACCATAGCCCCCTCTCCT
GAGGACGGCTTCGAGGTCCAGTCACTGCACCCGGACAAGGCGCAGATCCCCATTGTGGGC
AGTAATGGCTCCAGCCGCCTCCAGGACTCCCGGATATAG
|
| Enzyme 31 GenBank Gene ID |
S70609  |
| Enzyme 31 GeneCard ID |
SLC6A9  |
| Enzyme 31 GenAtlas ID |
SLC6A9  |
| Enzyme 31 HGNC ID |
HGNC:11056  |
| Enzyme 31 Chromosome Location |
1 |
| Enzyme 31 Locus |
1p33 |
| Enzyme 31 SNPs |
SNPJam Report  |
| Enzyme 31 General References |
- Kim KM, Kingsmore SF, Han H, Yang-Feng TL, Godinot N, Seldin MF, Caron MG, Giros B: Cloning of the human glycine transporter type 1: molecular and pharmacological characterization of novel isoform variants and chromosomal localization of the gene in the human and mouse genomes. Mol Pharmacol. 1994 Apr;45(4):608-17. [PubMed
]
|
| Enzyme 31 Metabolite References |
Not Available |
|
Enzyme 32
[top]
|
| Enzyme 32 ID |
7930 |
| Enzyme 32 Name |
Solute carrier family 13 member 3 |
| Enzyme 32 Synonyms |
- Sodium-dependent high-affinity dicarboxylate transporter 2
- Na(+/dicarboxylate cotransporter 3
- NaDC-3
- hNaDC3
|
| Enzyme 32 Gene Name |
SLC13A3 |
| Enzyme 32 Protein Sequence |
>Solute carrier family 13 member 3
MAALAAAAKKVWSARRLLVLLFTPLALLPVVFALPPKEGRCLFVILLMAVYWCTEALPLS
VTALLPIVLFPFMGILPSNKVCPQYFLDTNFLFLSGLIMASAIEEWNLHRRIALKILMLV
GVQPARLILGMMVTTSFLSMWLSNTASTAMMLPIANAILKSLFGQKEVRKDPSQESEENT
AAVRRNGLHTVPTEMQFLASTEAKDHPGETEVPLDLPADSRKEDEYRRNIWKGFLISIPY
SASIGGTATLTGTAPNLILLGQLKSFFPQCDVVNFGSWFIFAFPLMLLFLLAGWLWISFL
YGGLSFRGWRKNKSEIRTNAEDRARAVIREEYQNLGPIKFAEQAVFILFCMFAILLFTRD
PKFIPGWASLFNPGFLSDAVTGVAIVTILFFFPSQRPSLKWWFDFKAPNTETEPLLTWKK
AQETVPWNIILLLGGGFAMAKGCEESGLSVWIGGQLHPLENVPPALAVLLITVVIAFFTE
FASNTATIIIFLPVLAELAIRLRVHPLYLMIPGTVGCSFAFMLPVSTPPNSIAFASGHLL
VKDMVRTGLLMNLMGVLLLSLAMNTWAQTIFQLGTFPDWADMYSVNVTALPPTLANDTFR
TL
|
| Enzyme 32 Number of Residues |
602 |
| Enzyme 32 Molecular Weight |
66842 |
| Enzyme 32 Theoretical pI |
8.47 |
| Enzyme 32 GO Classification |
| Function |
|
| Process |
- cation transport
- cellular physiological process
- ion transport
- monovalent inorganic cation transport
- physiological process
- sodium ion transport
- transport
|
| Component |
|
|
| Enzyme 32 General Function |
Inorganic ion transport and metabolism |
| Enzyme 32 Specific Function |
High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-5 carbon atoms. The stoichiometry is probably 3 Na(+) for 1 divalent succinate |
| Enzyme 32 Pathways |
Not Available |
| Enzyme 32 Reactions |
Not Available |
| Enzyme 32 Pfam Domain Function |
|
| Enzyme 32 Signals |
|
| Enzyme 32 Transmembrane Regions |
Not Available |
| Enzyme 32 Essentiality |
Not Available |
| Enzyme 32 GenBank ID Protein |
8132324  |
| Enzyme 32 UniProtKB/Swiss-Prot ID |
Q8WWT9  |
| Enzyme 32 UniProtKB/Swiss-Prot Entry Name |
S13A3_HUMAN  |
| Enzyme 32 PDB ID |
Not Available |
| Enzyme 32 Cellular Location |
Not Available |
| Enzyme 32 Gene Sequence |
>1809 bp
ATGGCGGCGCTGGCAGCAGCGGCCAAGAAGGTGTGGAGCGCGCGGCGGCTGCTGGTGCTG
CTGTTCACGCCGCTCGCGCTGCTGCCGGTGGTCTTCGCCCTCCCGCCCAAGGAAGGCCGC
TGCTTGTTTGTCATCCTGCTCATGGCGGTGTACTGGTGCACGGAGGCCCTGCCGCTCTCA
GTGACGGCGCTGCTGCCCATCGTCCTCTTCCCCTTCATGGGCATCTTGCCCTCCAACAAG
GTCTGCCCCCAGTACTTCCTCGACACCAACTTCCTCTTCCTCAGTGGGCTGATCATGGCC
AGCGCCATTGAGGAGTGGAACCTGCACCGGCGAATCGCCCTCAAGATCCTGATGCTTGTT
GGAGTCCAGCCGGCCAGGCTCATCCTGGGGATGATGGTGACCACCTCGTTCTTGTCCATG
TGGCTGAGCAACACCGCCTCCACTGCCATGATGCTTCCAATTGCCAATGCCATCCTGAAA
AGTCTCTTTGGCCAGAAGGAGGTTCGAAAGGACCCCAGCCAGGAGAGTGAAGAGAACACA
GCTGCTGTGCGGAGAAACGGCTACACACTGTGCCCACGGAGATGCAGTTTCTCGCCAAGC
ACAGAAGCCAAAGACCACCCTGGGGAGACAGAGGTTCCACTGGATCTGCCGGCTGACTCC
AGGAAGGAGGATGAATATCGTCGGAACATCTGGAAGGGCTTCCTCATCTCCATCCCCTAC
TCAGCCAGTATTGGGGGCACAGCCACACTCACGGGCACAGCCCCTAACCTCATCCTGCTT
GGCCAGCTCAAGAGTTTCTTTCCGCAGTGTGACGTGGTGAATTTCGGCTCCTGGTTCATT
TTCGCCTTCCCTCTTATGCTGTTGTTCCTGTTGGCAGGCTGGCTCTGGATCTCCTTCCTG
TACGGGGGACTGAGCTTCAGGGGCTGGAGGAAGAATAAATCTGAGATAAGAACCAATGCA
GAAGATAGGGCTCGAGCTGTAATTCGGGAAGAATACCAGAACCTGGGGCCCATCAAGTTT
GCCGAACAGGCTGTTTTCATCCTTTTCTGCATGTTTGCCATCCTCCTCTTCACCCGGGAC
CCGAAGTTCATCCCTGGCTGGGCCAGCCTCTTCAATCCTGGGTTTCTTTCTGATGCTGTC
ACCGGCGTGGCTATTGTCACCATCTTGTTCTTCTTCCCGTCCCAAAGGCCCTCTCTCAAG
TGGTGGTTTGACTTCAAAGCTCCCAACACAGAGACAGAGCCCTTGCTGACCTGGAAGAAG
GCCCAGGAGACAGTGCCCTGGAACATCATCCTTCTCCTGGGAGGGGGCTTCGCCATGGCC
AAAGGCTGTGAGGAATCGGGGCTGTCTGTATGGATTGGTGGGCAGCTGCACCCCCTGGAG
AATGTGCCCCCCGCCCTGGCTGTGCTGCTCATCACTGTGGTCATCGCCTTCTTCACTGAG
TTTGCCAGCAACACGGCGACCATCATCATCTTCCTGCCGGTCCTGGCAGAGCTGGCCATC
CGCCTGAGAGTGCACCCCCTGTATCTGATGATTCCGGGCACAGTCGGCTGCTCCTTTGCC
TTCATGCTCCCGGTCTCAACGCCCCCCAACTCCATCGCCTTCGCCTCTGGACACTTGCTG
GTCAAAGACATGGTGCGGACAGGCCTCCTGATGAACCTGATGGGTGTCCTGCTGCTCAGT
TTGGCTATGAATACCTGGGCACAGACCATCTTCCAGCTGGGCACCTTCCCGGACTGGGCT
GATATGTACTCGGTCAATGTCACAGCATTGCCACCCACCTTGGCCAATGACACATTTCGG
ACCCTCTGA
|
| Enzyme 32 GenBank Gene ID |
AF154121  |
| Enzyme 32 GeneCard ID |
SLC13A3  |
| Enzyme 32 GenAtlas ID |
SLC13A3  |
| Enzyme 32 HGNC ID |
HGNC:14430  |
| Enzyme 32 Chromosome Location |
20 |
| Enzyme 32 Locus |
20q12-q13.1 |
| Enzyme 32 SNPs |
SNPJam Report  |
| Enzyme 32 General References |
- Wang H, Fei YJ, Kekuda R, Yang-Feng TL, Devoe LD, Leibach FH, Prasad PD, Ganapathy V: Structure, function, and genomic organization of human Na(+)-dependent high-affinity dicarboxylate transporter. Am J Physiol Cell Physiol. 2000 May;278(5):C1019-30. [PubMed
]
- Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S, Rogers J: The DNA sequence and comparative analysis of human chromosome 20. Nature. 2001 Dec 20-27;414(6866):865-71. [PubMed
]
|
| Enzyme 32 Metabolite References |
Not Available |
|
Enzyme 33
[top]
|
| Enzyme 33 ID |
7933 |
| Enzyme 33 Name |
Organic cation/carnitine transporter 1 |
| Enzyme 33 Synonyms |
- Solute carrier family 22 member 4
- Ergothioneine transporter
- ET transporter
|
| Enzyme 33 Gene Name |
SLC22A4 |
| Enzyme 33 Protein Sequence |
>Organic cation/carnitine transporter 1
MRDYDEVIAFLGEWGPFQRLIFFLLSASIIPNGFNGMSVVFLAGTPEHRCRVPDAANLSS
AWRNNSVPLRLRDGREVPHSCSRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFS
QDVYLSTVVTEWNLVCEDNWKVPLTTSLFFVGVLLGSFVSGQLSDRFGRKNVLFATMAVQ
TGFSFLQIFSISWEMFTVLFVIVGMGQISNYVVAFILGTEILGKSVRIIFSTLGVCTFFA
VGYMLLPLFAYFIRDWRMLLLALTVPGVLCVPLWWFIPESPRWLISQRRFREAEDIIQKA
AKMNNIAVPAVIFDSVEELNPLKQQKAFILDLFRTRNIAIMTIMSLLLWMLTSVGYFALS
LDAPNLHGDAYLNCFLSALIEIPAYITAWLLLRTLPRRYIIAAVLFWGGGVLLFIQLVPV
DYYFLSIGLVMLGKFGITSAFSMLYVFTAELYPTLVRNMAVGVTSTASRVGSIIAPYFVY
LGAYNRMLPYIVMGSLTVLIGILTLFFPESLGMTLPETLEQMQKVKWFRSGKKTRDSMET
EENPKVLITAF
|
| Enzyme 33 Number of Residues |
551 |
| Enzyme 33 Molecular Weight |
62156 |
| Enzyme 33 Theoretical pI |
7.27 |
| Enzyme 33 GO Classification |
| Function |
- ion transporter activity
- transporter activity
|
| Process |
- cellular physiological process
- ion transport
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 33 General Function |
Carbohydrate transport and metabolism |
| Enzyme 33 Specific Function |
Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET) |
| Enzyme 33 Pathways |
Not Available |
| Enzyme 33 Reactions |
Not Available |
| Enzyme 33 Pfam Domain Function |
|
| Enzyme 33 Signals |
|
| Enzyme 33 Transmembrane Regions |
- 21-41
142-162
172-192
198-218
233-253
258-278
338-358
372-392
400-420
427-447
461-481
487-507
|
| Enzyme 33 Essentiality |
Not Available |
| Enzyme 33 GenBank ID Protein |
2605501  |
| Enzyme 33 UniProtKB/Swiss-Prot ID |
Q9H015  |
| Enzyme 33 UniProtKB/Swiss-Prot Entry Name |
S22A4_HUMAN  |
| Enzyme 33 PDB ID |
Not Available |
| Enzyme 33 Cellular Location |
Not Available |
| Enzyme 33 Gene Sequence |
>1656 bp
ATGCGGGACTACGACGAGGTGATCGCCTTCCTGGGCGAGTGGGGGCCCTTCCAGCGCCTC
ATCTTCTTCCTGCTCAGCGCCAGCATCATCCCCAATGGCTTCAATGGTATGTCAGTCGTG
TTCCTGGCGGGGACCCCGGAGCACCGCTGTCGAGTGCCGGACGCCGCGAACCTGAGCAGC
GCCTGGCGCAACAACAGTGTCCCGCTGCGGCTGCGGGACGGCCGCGAGGTGCCCCACAGC
TGCAGCCGCTACCGGCTCGCCACCATCGCCAACTTCTCGGCGCTCGGGCTGGAGCCGGGG
CGCGACGTGGACCTGGGGCAGCTGGAGCAGGAGAGCTGCCTGGATGGCTGGGAGTTCAGC
CAGGACGTCTACCTGTCCACCGTCGTGACCGAGTGGAATCTGGTGTGTGAGGACAACTGG
AAGGTGCCCCTCACCACCTCCCTGTTCTTCGTAGGCGTGCTCCTCGGCTCCTTCGTGTCC
GGGCAGCTGTCAGACAGGTTTGGCAGGAAGAACGTTCTCTTCGCAACCATGGCTGTACAG
ACTGGCTTCAGCTTCCTGCAGATTTTCTCCATCAGCTGGGAGATGTTCACTGTGTTATTT
GTCATCGTGGGCATGGGCCAGATCTCCAACTATGTGGTAGCCTTCATACTAGGAACAGAA
ATTCTTGGCAAGTCAGTTCGTATTATATTCTCTACATTAGGAGTGTGCACATTTTTTGCA
GTTGGCTATATGCTGCTGCCACTGTTTGCTTACTTCATCAGAGACTGGCGGATGCTGCTG
CTGGCGCTGACGGTGCCGGGAGTGCTGTGTGTCCCGCTGTGGTGGTTCATTCCTGAATCT
CCCCGATGGCTGATATCCCAGAGAAGATTTAGAGAGGCTGAAGATATCATCCAAAAAGCT
GCAAAAATGAACAACACAGCTGTACCAGCAGTGATATTTGATTCTGTGGAGGAGCTAAAT
CCCCTGAAGCAGCAGAAAGCTTTCATTCTGGACCTGTTCAGGACTCGGAATATTGCCATA
ATGACCATTATGTCTTTGCTGCTATGGATGCTGACCTCAGTGGGTTACTTTGCTCTGTCT
CTGGATGCTCCTAATTTACATGGAGATGCCTACCTGAACTGTTTCCTCTCTGCCTTGATT
GAAATTCCAGCTTACATTACAGCCTGGCTGCTATTGCGAACGCTGCCCAGGCGTTATATC
ATAGCTGCAGTACTGTTCTGGGGAGGAGGTGTGCTTCTCTTCATTCAACTGGTACCTGTG
GATTATTACTTCTTATCCATTGGTCTGGTCATGCTGGGAAAATTTGGGATCACCTCTGCT
TTCTCCATGCTGTATGTCTTCACTGCTGAGCTCTACCCAACCCTGGTCAGGAACATGGCG
GTGGGGGTCACATCCACGGCCTCCAGAGTGGGCAGCATCATTGCCCCCTACTTTGTTTAC
CTCGGTGCTTACAACAGAATGCTGCCCTACATCGTCATGGGTAGTCTGACTGTCCTGATT
GGAATCTTCACCCTTTTTTTCCCTGAAAGTTTGGGAATGACTCTTCCAGAAACCTTAGAG
CAGATGCAGAAAGTGAAATGGTTCAGATCTGGGAAAAAAACAAGAGACTCAATGGAGACA
GAAGAAAATCCCAAGGTTCTAATAACTGCATTCTGA
|
| Enzyme 33 GenBank Gene ID |
AB007448  |
| Enzyme 33 GeneCard ID |
SLC22A4  |
| Enzyme 33 GenAtlas ID |
SLC22A4  |
| Enzyme 33 HGNC ID |
HGNC:10968  |
| Enzyme 33 Chromosome Location |
5 |
| Enzyme 33 Locus |
5q31.1 |
| Enzyme 33 SNPs |
SNPJam Report  |
| Enzyme 33 General References |
- Tamai I, Yabuuchi H, Nezu J, Sai Y, Oku A, Shimane M, Tsuji A: Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1. FEBS Lett. 1997 Dec 8;419(1):107-11. [PubMed
]
|
| Enzyme 33 Metabolite References |
Not Available |
|
Enzyme 34
[top]
|
| Enzyme 34 ID |
7956 |
| Enzyme 34 Name |
Ileal sodium/bile acid cotransporter |
| Enzyme 34 Synonyms |
- Ileal Na(+/bile acid cotransporter
- Na(+-dependent ileal bile acid transporter
- Ileal sodium-dependent bile acid transporter
- ISBT
- IBAT
- Apical sodium- dependent bile acid transporter
- ASBT
- Sodium/taurocholate cotransporting polypeptide, ileal
- Solute carrier family 10 member 2
|
| Enzyme 34 Gene Name |
SLC10A2 |
| Enzyme 34 Protein Sequence |
>Ileal sodium/bile acid cotransporter
MNDPNSCVDNATVCSGASCVVPESNFNNILSVVLSTVLTILLALVMFSMGCNVEIKKFLG
HIKRPWGICVGFLCQFGIMPLTGFILSVAFDILPLQAVVVLIIGCCPGGTASNILAYWVD
GDMDLSVSMTTCSTLLALGMMPLCLLIYTKMWVDSGSIVIPYDNIGTSLVALVVPVSIGM
FVNHKWPQKAKIILKIGSIAGAILIVLIAVVGGILYQSAWIIAPKLWIIGTIFPVAGYSL
GFLLARIAGLPWYRCRTVAFETGMQNTQLCSTIVQLSFTPEELNVVFTFPLIYSIFQLAF
AAIFLGFYVAYKKCHGKNKAEIPESKENGTEPESSFYKANGGFQPDEK
|
| Enzyme 34 Number of Residues |
348 |
| Enzyme 34 Molecular Weight |
37698 |
| Enzyme 34 Theoretical pI |
7.13 |
| Enzyme 34 GO Classification |
| Function |
- bile acid:sodium symporter activity
- organic acid transporter activity
- organic acid:sodium symporter activity
- transporter activity
|
| Process |
- anion transport
- cation transport
- cellular physiological process
- ion transport
- monovalent inorganic cation transport
- organic anion transport
- physiological process
- sodium ion transport
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 34 General Function |
Not Available |
| Enzyme 34 Specific Function |
Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism |
| Enzyme 34 Pathways |
Not Available |
| Enzyme 34 Reactions |
Not Available |
| Enzyme 34 Pfam Domain Function |
|
| Enzyme 34 Signals |
|
| Enzyme 34 Transmembrane Regions |
- 29-49
83-103
127-147
158-178
196-216
225-245
285-305
|
| Enzyme 34 Essentiality |
Not Available |
| Enzyme 34 GenBank ID Protein |
595399  |
| Enzyme 34 UniProtKB/Swiss-Prot ID |
Q12908  |
| Enzyme 34 UniProtKB/Swiss-Prot Entry Name |
NTCP2_HUMAN  |
| Enzyme 34 PDB ID |
Not Available |
| Enzyme 34 Cellular Location |
Not Available |
| Enzyme 34 Gene Sequence |
>1047 bp
ATGAATGATCCGAACAGCTGTGTGGACAATGCAACAGTTTGCTCTGGTGCATCCTGTGTG
GTACCTGAGAGCAATTTCAATAACATCCTAAGTGTGGTCCTAAGTACGGTGCTGACCATC
CTGTTGGCCTTGGTGATGTTCTCCATGGGATGCAACGTGGAAATCAAGAAATTTCTAGGG
CACATAAAGCGGCCGTGGGGCATTTGTGTTGGCTTCCTCTGTCAGTTTGGAATCATGCCC
CTCACAGGATTCATCCTGTCGGTGGCCTTTGACATCCTCCCGCTCCAGGCCGTAGTGGTG
CTCATTATAGGATGCTGCCCTGGAGGAACTGCCTCCAATATCTTGGCCTATTGGGTCGAT
GGCGACATGGACCTGAGCGTCAGCATGACCACATGCTCCACACTGCTTGCCCTCGGAATG
ATGCCGCTGTGCCTCCTTATCTATACCAAAATGTGGGTCGACTCTGGGAGCATCGTAATT
CCCTATGATAACATAGGTACATCTCTGGTTGCTCTCGTTGTTCCTGTTTCCATTGGAATG
TTTGTTAATCACAAATGGCCCCAAAAAGCAAAGATCATACTTAAAATTGGGTCCATCGCG
GGCGCCATCCTCATTGTGCTCATAGCTGTGGTTGGAGGAATATTGTACCAAAGCGCCTGG
ATCATTGCTCCCAAACTGTGGATTATAGGAACAATATTTCCTGTGGCGGGTTACTCCCTG
GGGTTTCTTCTGGCTAGAATTGCTGGTCTACCCTGGTACAGGTGCCGAACGGTTGCTTTT
GAAACGGGGATGCAGAACACGCAGCTATGTTCCACCATCGTTCAGCTCTCCTTCACTCCT
GAGGAGCTCAATGTCGTATTCACCTTCCCGCTCATCTACAGCATTTTCCAGCTCGCCTTT
GCCGCAATATTCTTAGGATTTTATGTGGCATACAAGAAATGTCATGGAAAAAACAAGGCA
GAAATTCCAGAGAGCAAAGAAAATGGAACGGAGCCAGAGTCATCGTTTTATAAGGCAAAT
GGAGGATTTCAACCTGACGAAAAGTAG
|
| Enzyme 34 GenBank Gene ID |
U10417  |
| Enzyme 34 GeneCard ID |
SLC10A2  |
| Enzyme 34 GenAtlas ID |
SLC10A2  |
| Enzyme 34 HGNC ID |
HGNC:10906  |
| Enzyme 34 Chromosome Location |
13 |
| Enzyme 34 Locus |
13q33 |
| Enzyme 34 SNPs |
SNPJam Report  |
| Enzyme 34 General References |
- Wong MH, Oelkers P, Dawson PA: Identification of a mutation in the ileal sodium-dependent bile acid transporter gene that abolishes transport activity. J Biol Chem. 1995 Nov 10;270(45):27228-34. [PubMed
]
- Oelkers P, Kirby LC, Heubi JE, Dawson PA: Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). J Clin Invest. 1997 Apr 15;99(8):1880-7. [PubMed
]
- Chumakov I, Blumenfeld M, Guerassimenko O, Cavarec L, Palicio M, Abderrahim H, Bougueleret L, Barry C, Tanaka H, La Rosa P, Puech A, Tahri N, Cohen-Akenine A, Delabrosse S, Lissarrague S, Picard FP, Maurice K, Essioux L, Millasseau P, Grel P, Debailleul V, Simon AM, Caterina D, Dufaure I, Malekzadeh K, Belova M, Luan JJ, Bouillot M, Sambucy JL, Primas G, Saumier M, Boubkiri N, Martin-Saumier S, Nasroune M, Peixoto H, Delaye A, Pinchot V, Bastucci M, Guillou S, Chevillon M, Sainz-Fuertes R, Meguenni S, Aurich-Costa J, Cherif D, Gimalac A, Van Duijn C, Gauvreau D, Ouellette G, Fortier I, Raelson J, Sherbatich T, Riazanskaia N, Rogaev E, Raeymaekers P, Aerssens J, Konings F, Luyten W, Macciardi F, Sham PC, Straub RE, Weinberger DR, Cohen N, Cohen D: Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. Proc Natl Acad Sci U S A. 2002 Oct 15;99(21):13675-80. Epub 2002 Oct 3. [PubMed
]
- Montagnani M, Love MW, Rossel P, Dawson PA, Qvist P: Absence of dysfunctional ileal sodium-bile acid cotransporter gene mutations in patients with adult-onset idiopathic bile acid malabsorption. Scand J Gastroenterol. 2001 Oct;36(10):1077-80. [PubMed
]
|
| Enzyme 34 Metabolite References |
Not Available |
|
Enzyme 35
[top]
|
| Enzyme 35 ID |
8040 |
| Enzyme 35 Name |
Low affinity sodium-glucose cotransporter |
| Enzyme 35 Synonyms |
- Sodium/glucose cotransporter 3
- Na(+/glucose cotransporter 3
|
| Enzyme 35 Gene Name |
SLC5A4 |
| Enzyme 35 Protein Sequence |
>Low affinity sodium-glucose cotransporter
MASTVSPSTIAETPEPPPLSDHIRNAADISVIVIYFLVVMAVGLWAMLKTNRGTIGGFFL
AGRDMAWWPMGASLFASNIGSNHYVGLAGTGAASGVATVTFEWTSSVMLLILGWIFVPIY
IKSGVMTMPEYLKKRFGGERLQVYLSILSLFICVVLLISADIFAGAIFIKLALGLDLYLA
IFILLAMTAVYTTTGGLASVIYTDTLQTIIMLIGSFILMGFAFNEVGGYESFTEKYVNAT
PSVVEGDNLTISASCYTPRADSFHIFRDAVTGDIPWPGIIFGMPITALWYWCTNQVIVQR
CLCGKDMSHVKAACIMCAYLKLLPMFLMVMPGMISRILYTDMVACVVPSECVKHCGVDVG
CTNYAYPTMVLELMPQGLRGLMLSVMLASLMSSLTSIFNSASTLFTIDLYTKMRKQASEK
ELLIAGRIFVLLLTVVSIVWVPLVQVSQNGQLIHYTESISSYLGPPIAAVFVLAIFCKRV
NEQGAFWGLMVGLAMGLIRMITEFAYGTGSCLAPSNCPKIICGVHYLYFSIVLFFGSMLV
TLGISLLTKPIPDVHLYRLCWVLRNSTEERIDIDAEEKSQEETDDGVEEDYPEKSRGCLK
KAYDLFCGLQKGPKLTKEEEEALSKKLTDTSERPSWRTIVNINAILLLAVVVFIHGYYA
|
| Enzyme 35 Number of Residues |
659 |
| Enzyme 35 Molecular Weight |
72456 |
| Enzyme 35 Theoretical pI |
6.06 |
| Enzyme 35 GO Classification |
| Function |
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
|
|
| Enzyme 35 General Function |
Not Available |
| Enzyme 35 Specific Function |
Sodium-dependent glucose transporter |
| Enzyme 35 Pathways |
Not Available |
| Enzyme 35 Reactions |
Not Available |
| Enzyme 35 Pfam Domain Function |
|
| Enzyme 35 Signals |
|
| Enzyme 35 Transmembrane Regions |
- 29-47
65-85
106-126
172-191
209-229
271-291
315-334
424-443
456-476
527-547
638-658
|
| Enzyme 35 Essentiality |
Not Available |
| Enzyme 35 GenBank ID Protein |
7263938  |
| Enzyme 35 UniProtKB/Swiss-Prot ID |
Q9NY91  |
| Enzyme 35 UniProtKB/Swiss-Prot Entry Name |
SC5A4_HUMAN  |
| Enzyme 35 PDB ID |
Not Available |
| Enzyme 35 Cellular Location |
Not Available |
| Enzyme 35 Gene Sequence |
>1980 bp
ATGGCCAGTACGGTTAGCCCCAGCACCATAGCTGAGACCCCAGAGCCACCTCCATTGTCT
GACCACATCCGAAATGCTGCTGACATCTCAGTCATTGTCATCTATTTTCTGGTGGTGATG
GCTGTTGGGCTGTGGGCGATGCTGAAGACCAACCGAGGTACTATAGGAGGCTTCTTCCTC
GCTGGTCGTGATATGGCCTGGTGGCCGATGGGCGCCTCTCTCTTTGCCAGTAACATCGGC
AGCAACCACTATGTGGGGCTGGCTGGGACAGGAGCAGCTTCAGGAGTCGCCACCGTAACA
TTTGAATGGACTTCCTCAGTAATGTTGCTGATTCTTGGGTGGATCTTTGTCCCTATCTAC
ATCAAGTCGGGGGTGATGACCATGCCGGAATATCTCAAGAAGCGGTTTGGTGGGGAGCGA
CTCCAGGTCTACCTCTCCATCCTCTCCCTCTTCATCTGTGTGGTTTTGTTAATTTCTGCA
GACATATTTGCTGGAGCCATATTCATCAAGCTGGCCTTGGGATTGGACCTTTACCTGGCA
ATCTTCATCCTCTTGGCTATGACTGCTGTTTACACCACCACTGGGGGCTTGGCCTCGGTG
ATTTACACAGACACCCTCCAGACCATCATCATGCTGATTGGCTCTTTTATTCTCATGGGG
TTTGCATTTAACGAAGTTGGAGGTTATGAGAGCTTTACCGAGAAGTACGTGAATGCCACC
CCATCCGTAGTCGAGGGGGACAACTTGACAATCAGTGCCAGTTGCTACACACCTCGGGCG
GACTCCTTCCATATCTTCCGAGATGCTGTGACTGGGGACATTCCATGGCCAGGAATTATA
TTTGGAATGCCCATTACAGCTTTGTGGTACTGGTGCACAAATCAGGTCATTGTGCAGCGC
TGCCTGTGTGGCAAGGACATGTCTCACGTGAAGGCCGCTTGCATTATGTGTGCTTACCTG
AAGCTGCTGCCCATGTTCCTCATGGTGATGCCGGGGATGATCAGCCGCATCCTGTACACA
GATATGGTAGCATGTGTGGTACCTTCTGAATGCGTGAAACACTGTGGCGTTGATGTTGGC
TGCACCAACTACGCATACCCCACGATGGTGCTGGAACTGATGCCCCAAGGACTGCGAGGC
CTGATGCTTTCGGTCATGCTGGCCTCTCTCATGAGCTCCCTGACCTCCATCTTCAACAGC
GCCAGCACCCTCTTCACCATTGACCTCTACACCAAGATGCGGAAGCAAGCGTCGGAGAAA
GAGCTCCTGATAGCTGGACGGATATTTGTTCTTCTATTAACTGTTGTGAGCATTGTGTGG
GTCCCACTGGTACAAGTTTCTCAAAATGGACAACTAATCCATTACACAGAATCAATTTCT
AGCTACCTTGGGCCTCCAATTGCAGCTGTCTTTGTGCTTGCCATCTTCTGTAAAAGAGTC
AATGAACAGGGAGCATTCTGGGGTCTAATGGTTGGACTTGCAATGGGCCTCATTCGTATG
ATAACAGAGTTTGCTTATGGAACAGGGAGTTGCTTGGCTCCCAGTAACTGTCCCAAGATT
ATCTGTGGAGTGCACTATCTGTACTTTTCCATCGTTCTCTTTTTTGGGTCCATGCTGGTC
ACCCTGGGAATTTCCCTCTTAACAAAACCCATTCCTGATGTACATCTGTACCGCCTGTGC
TGGGTTCTTCGGAACAGTACAGAGGAGCGAATCGATATAGATGCAGAAGAGAAAAGTCAG
GAAGAAACAGATGATGGTGTTGAAGAAGATTATCCTGAGAAATCACGTGGATGCCTCAAG
AAAGCTTATGACTTGTTCTGCGGTTTGCAGAAGGGACCCAAGCTAACCAAGGAGGAGGAG
GAAGCCTTGAGCAAGAAGCTCACAGACACGTCTGAGAGGCCCTCGTGGAGGACAATAGTG
AACATCAACGCCATCCTCCTCCTGGCTGTGGTGGTCTTTATTCACGGCTACTATGCCTGA
|
| Enzyme 35 GenBank Gene ID |
AJ133127  |
| Enzyme 35 GeneCard ID |
SLC5A4  |
| Enzyme 35 GenAtlas ID |
SLC5A4  |
| Enzyme 35 HGNC ID |
HGNC:11039  |
| Enzyme 35 Chromosome Location |
22 |
| Enzyme 35 Locus |
22q12.2-q12.3 |
| Enzyme 35 SNPs |
SNPJam Report  |
| Enzyme 35 General References |
- Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al.: The DNA sequence of human chromosome 22. Nature. 1999 Dec 2;402(6761):489-95. [PubMed
]
|
| Enzyme 35 Metabolite References |
Not Available |
|
Enzyme 36
[top]
|
| Enzyme 36 ID |
8046 |
| Enzyme 36 Name |
Sodium-dependent dopamine transporter |
| Enzyme 36 Synonyms |
- DA transporter
- DAT
|
| Enzyme 36 Gene Name |
SLC6A3 |
| Enzyme 36 Protein Sequence |
>Sodium-dependent dopamine transporter
MSKSKCSVGLMSSVVAPAKEPNAVGPKEVELILVKEQNGVQLTSSTLTNPRQSPVEAQDR
ETWGKKIDFLLSVIGFAVDLANVWRFPYLCYKNGGGAFLVPYLLFMVIAGMPLFYMELAL
GQFNREGAAGVWKICPILKGVGFTVILISLYVGFFYNVIIAWALHYLFSSFTTELPWIHC
NNSWNSPNCSDAHPGDSSGDSSGLNDTFGTTPAAEYFERGVLHLHQSHGIDDLGPPRWQL
TACLVLVIVLLYFSLWKGVKTSGKVVWITATMPYVVLTALLLRGVTLPGAIDGIRAYLSV
DFYRLCEASVWIDAATQVCFSLGVGFGVLIAFSSYNKFTNNCYRDAIVTTSINSLTSFSS
GFVVFSFLGYMAQKHSVPIGDVAKDGPGLIFIIYPEAIATLPLSSAWAVVFFIMLLTLGI
DSAMGGMESVITGLIDEFQLLHRHRELFTLFIVLATFLLSLFCVTNGGIYVFTLLDHFAA
GTSILFGVLIEAIGVAWFYGVGQFSDDIQQMTGQRPSLYWRLCWKLVSPCFLLFVVVVSI
VTFRPPHYGAYIFPDWANALGWVIATSSMAMVPIYAAYKFCSLPGSFREKLAYAIAPEKD
RELVDRGEVRQFTLRHWLKV
|
| Enzyme 36 Number of Residues |
620 |
| Enzyme 36 Molecular Weight |
68496 |
| Enzyme 36 Theoretical pI |
6.92 |
| Enzyme 36 GO Classification |
| Function |
- dopamine:sodium symporter activity
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- transporter activity
|
| Process |
- cellular physiological process
- neurotransmitter transport
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 36 General Function |
Not Available |
| Enzyme 36 Specific Function |
Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals |
| Enzyme 36 Pathways |
Not Available |
| Enzyme 36 Reactions |
Not Available |
| Enzyme 36 Pfam Domain Function |
|
| Enzyme 36 Signals |
|
| Enzyme 36 Transmembrane Regions |
- 69-89
96-116
140-160
238-256
265-282
318-335
347-368
401-420
447-465
481-501
522-541
560-578
|
| Enzyme 36 Essentiality |
Not Available |
| Enzyme 36 GenBank ID Protein |
553260  |
| Enzyme 36 UniProtKB/Swiss-Prot ID |
Q01959  |
| Enzyme 36 UniProtKB/Swiss-Prot Entry Name |
SC6A3_HUMAN  |
| Enzyme 36 PDB ID |
Not Available |
| Enzyme 36 Cellular Location |
Not Available |
| Enzyme 36 Gene Sequence |
>278 bp
GCTGCACTATCTCTTCTCCTCCTTCACCACGGAGCTCCCCTGGATCCACTGCAACAACTC
CTGGAACAGCCCCAACTGCTCGGATGCCCATCCTGGTGACTCCAGTGGAGACAGCTCGGG
CCTCAACGACACTTTTGGGACCACACCTGCTGCCGAGTACTTTGAACGTGGCGTGCTGCA
CCTCCACCAGAGCCATGGCATCGACGACCTGGGGCCTCCGCGGTGGCAGCTCACAGCCTG
CCTGGTGCTGGTCATCGTGCTGCTCTACTTCAGCCTCT
|
| Enzyme 36 GenBank Gene ID |
M96670  |
| Enzyme 36 GeneCard ID |
SLC6A3  |
| Enzyme 36 GenAtlas ID |
SLC6A3  |
| Enzyme 36 HGNC ID |
HGNC:11049  |
| Enzyme 36 Chromosome Location |
5 |
| Enzyme 36 Locus |
5p15.3 |
| Enzyme 36 SNPs |
SNPJam Report  |
| Enzyme 36 General References |
- Vandenbergh DJ, Persico AM, Uhl GR: A human dopamine transporter cDNA predicts reduced glycosylation, displays a novel repetitive element and provides racially-dimorphic TaqI RFLPs. Brain Res Mol Brain Res. 1992 Sep;15(1-2):161-6. [PubMed
]
- Giros B, el Mestikawy S, Godinot N, Zheng K, Han H, Yang-Feng T, Caron MG: Cloning, pharmacological characterization, and chromosome assignment of the human dopamine transporter. Mol Pharmacol. 1992 Sep;42(3):383-90. [PubMed
]
- Pristupa ZB, Wilson JM, Hoffman BJ, Kish SJ, Niznik HB: Pharmacological heterogeneity of the cloned and native human dopamine transporter: disassociation of [3H]WIN 35,428 and [3H]GBR 12,935 binding. Mol Pharmacol. 1994 Jan;45(1):125-35. [PubMed
]
- Kawarai T, Kawakami H, Yamamura Y, Nakamura S: Structure and organization of the gene encoding human dopamine transporter. Gene. 1997 Aug 11;195(1):11-8. [PubMed
]
- Vandenbergh DJ, Thompson MD, Cook EH, Bendahhou E, Nguyen T, Krasowski MD, Zarrabian D, Comings D, Sellers EM, Tyndale RF, George SR, O'Dowd BF, Uhl GR: Human dopamine transporter gene: coding region conservation among normal, Tourette's disorder, alcohol dependence and attention-deficit hyperactivity disorder populations. Mol Psychiatry. 2000 May;5(3):283-92. [PubMed
]
- Greenwood TA, Alexander M, Keck PE, McElroy S, Sadovnick AD, Remick RA, Kelsoe JR: Evidence for linkage disequilibrium between the dopamine transporter and bipolar disorder. Am J Med Genet. 2001 Mar 8;105(2):145-51. [PubMed
]
- Donovan DM, Vandenbergh DJ, Perry MP, Bird GS, Ingersoll R, Nanthakumar E, Uhl GR: Human and mouse dopamine transporter genes: conservation of 5'-flanking sequence elements and gene structures. Brain Res Mol Brain Res. 1995 Jun;30(2):327-35. [PubMed
]
- Bannon MJ, Poosch MS, Xia Y, Goebel DJ, Cassin B, Kapatos G: Dopamine transporter mRNA content in human substantia nigra decreases precipitously with age. Proc Natl Acad Sci U S A. 1992 Aug 1;89(15):7095-9. [PubMed
]
- Torres GE, Yao WD, Mohn AR, Quan H, Kim KM, Levey AI, Staudinger J, Caron MG: Functional interaction between monoamine plasma membrane transporters and the synaptic PDZ domain-containing protein PICK1. Neuron. 2001 Apr;30(1):121-34. [PubMed
]
- Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 1999 Jul;22(3):231-8. [PubMed
]
|
| Enzyme 36 Metabolite References |
Not Available |
|
Enzyme 37
[top]
|
| Enzyme 37 ID |
8049 |
| Enzyme 37 Name |
Sodium/bile acid cotransporter |
| Enzyme 37 Synonyms |
- Na(+/bile acid cotransporter
- Na(+/taurocholate transport protein
- Sodium/taurocholate cotransporting polypeptide
- Solute carrier family 10 member 1
- Cell growth-inhibiting gene 29 protein
|
| Enzyme 37 Gene Name |
SLC10A1 |
| Enzyme 37 Protein Sequence |
>Sodium/bile acid cotransporter
MEAHNASAPFNFTLPPNFGKRPTDLALSVILVFMLFFIMLSLGCTMEFSKIKAHLWKPKG
LAIALVAQYGIMPLTAFVLGKVFRLKNIEALAILVCGCSPGGNLSNVFSLAMKGDMNLSI
VMTTCSTFCALGMMPLLLYIYSRGIYDGDLKDKVPYKGIVISLVLVLIPCTIGIVLKSKR
PQYMRYVIKGGMIIILLCSVAVTVLSAINVGKSIMFAMTPLLIATSSLMPFIGFLLGYVL
SALFCLNGRCRRTVSMETGCQNVQLCSTILNVAFPPEVIGPLFFFPLLYMIFQLGEGLLL
IAIFWCYEKFKTPKDKTKMIYTAATTEETIPGALGNGTYKGEDCSPCTA
|
| Enzyme 37 Number of Residues |
349 |
| Enzyme 37 Molecular Weight |
38120 |
| Enzyme 37 Theoretical pI |
8.94 |
| Enzyme 37 GO Classification |
| Function |
- bile acid:sodium symporter activity
- organic acid transporter activity
- organic acid:sodium symporter activity
- transporter activity
|
| Process |
- anion transport
- cation transport
- cellular physiological process
- ion transport
- monovalent inorganic cation transport
- organic anion transport
- physiological process
- sodium ion transport
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 37 General Function |
Not Available |
| Enzyme 37 Specific Function |
The hepatic sodium/bile acid uptake system exhibits broad substrate specificity and transports various non-bile acid organic compounds as well. It is strictly dependent on the extracellular presence of sodium |
| Enzyme 37 Pathways |
Not Available |
| Enzyme 37 Reactions |
Not Available |
| Enzyme 37 Pfam Domain Function |
|
| Enzyme 37 Signals |
|
| Enzyme 37 Transmembrane Regions |
- 25-45
60-80
91-111
120-140
156-176
191-211
220-240
283-303
|
| Enzyme 37 Essentiality |
Not Available |
| Enzyme 37 GenBank ID Protein |
410214  |
| Enzyme 37 UniProtKB/Swiss-Prot ID |
Q14973  |
| Enzyme 37 UniProtKB/Swiss-Prot Entry Name |
NTCP_HUMAN  |
| Enzyme 37 PDB ID |
Not Available |
| Enzyme 37 Cellular Location |
Not Available |
| Enzyme 37 Gene Sequence |
>1050 bp
ATGGAGGCCCACAACGCGTCTGCCCCATTCAACTTCACCCTGCCACCCAACTTTGGCAAG
CGCCCCACAGACCTGGCACTGAGCGTCATCCTGGTGTTCATGTTGTTCTTCATCATGCTC
TCGCTGGGCTGCACCATGGAGTTCAGCAAGATCAAGGCTCACTTATGGAAGCCTAAAGGG
CTGGCCATCGCCCTGGTGGCACAGTATGGCATCATGCCCCTCACGGCCTTTGTGCTGGGC
AAGGTCTTCCGGCTGAAGAACATTGAGGCACTGGCCATCTTGGTCTGTGGCTGCTCACCT
GGAGGGAACCTGTCCAATGTCTTCAGTCTGGCCATGAAGGGGGACATGAACCTCAGCATT
GTGATGACCACCTGCTCCACCTTCTGTGCCCTTGGCATGATGCCTCTCCTCCTGTACATC
TACTCCAGGGGGATCTATGATGGGGACCTGAAGGACAAGGTGCCCTATAAAGGCATCGTG
ATATCACTGGTCCTGGTTCTCATTCCTTGCACCATAGGGATCGTCCTCAAATCCAAACGG
CCACAATACATGCGCTATGTCATCAAGGGAGGGATGATCATCATTCTCTTGTGCAGTGTG
GCCGTCACAGTTCTCTCTGCCATCAATGTGGGGAAGAGCATCATGTTTGCCATGACACCA
CTCTTGATTGCCACCTCCTCCCTGATGCCTTTTATTGGCTTTCTGCTGGGTTATGTTCTC
TCTGCTCTCTTCTGCCTCAATGGACGGTGCAGACGCACTGTCAGCATGGAGACTGGATGC
CAAAATGTCCAACTCTGTTCCACCATCCTCAATGTGGCCTTTCCACCTGAAGTCATTGGA
CCACTTTTCTTCTTTCCCCTCCTCTACATGATTTTCCAGCTTGGAGAAGGGCTTCTCCTC
ATTGCCATATTTTGGTGCTATGAGAAATTCAAGACTCCCAAGGATAAAACAAAAATGATC
TACACAGCTGCCACAACTGAAGAAACAATTCCAGGAGCTCTGGGAAATGGCACCTACAAA
GGGGAGGACTGCTCCCCTTGCACAGCCTAG
|
| Enzyme 37 GenBank Gene ID |
L21893  |
| Enzyme 37 GeneCard ID |
SLC10A1  |
| Enzyme 37 GenAtlas ID |
SLC10A1  |
| Enzyme 37 HGNC ID |
HGNC:10905  |
| Enzyme 37 Chromosome Location |
14 |
| Enzyme 37 Locus |
14q24.1 |
| Enzyme 37 SNPs |
SNPJam Report  |
| Enzyme 37 General References |
- Hagenbuch B, Meier PJ: Molecular cloning, chromosomal localization, and functional characterization of a human liver Na+/bile acid cotransporter. J Clin Invest. 1994 Mar;93(3):1326-31. [PubMed
]
|
| Enzyme 37 Metabolite References |
Not Available |
|
Enzyme 38
[top]
|
| Enzyme 38 ID |
8054 |
| Enzyme 38 Name |
Sodium/hydrogen exchanger 1 |
| Enzyme 38 Synonyms |
- Na(+/H(+exchanger 1
- NHE-1
- Solute carrier family 9 member 1
- Na(+/H(+antiporter, amiloride- sensitive
- APNH
|
| Enzyme 38 Gene Name |
SLC9A1 |
| Enzyme 38 Protein Sequence |
>Sodium/hydrogen exchanger 1
MVLRSGICGLSPHRIFPSLLVVVALVGLLPVLRSHGLQLSPTASTIRSSEPPRERSIGDV
TTAPPEVTPESRPVNHSVTDHGMKPRKAFPVLGIDYTHVRTPFEISLWILLACLMKIGFH
VIPTISSIVPESCLLIVVGLLVGGLIKGVGETPPFLQSDVFFLFLLPPIILDAGYFLPLR
QFTENLGTILIFAVVGTLWNAFFLGGLMYAVCLVGGEQINNIGLLDNLLFGSIISAVDPV
AVLAVFEEIHINELLHILVFGESLLNDAVTVVLYHLFEEFANYEHVGIVDIFLGFLSFFV
VALGGVLVGVVYGVIAAFTSRFTSHIRVIEPLFVFLYSYMAYLSAELFHLSGIMALIASG
VVMRPYVEANISHKSHTTIKYFLKMWSSVSETLIFIFLGVSTVAGSHHWNWTFVISTLLF
CLIARVLGVLGLTWFINKFRIVKLTPKDQFIIAYGGLRGAIAFSLGYLLDKKHFPMCDLF
LTAIITVIFFTVFVQGMTIRPLVDLLAVKKKQETKRSINEEIHTQFLDHLLTGIEDICGH
YGHHHWKDKLNRFNKKYVKKCLIAGERSKEPQLIAFYHKMEMKQAIELVESGGMGKIPSA
VSTVSMQNIHPKSLPSERILPALSKDKEEEIRKILRNNLQKTRQRLRSYNRHTLVADPYE
EAWNQMLLRRQKARQLEQKINNYLTVPAHKLDSPTMSRARIGSDPLAYEPKEDLPVITID
PASPQSPESVDLVNEELKGKVLGLSRDPAKVAEEDEDDDGGIMMRSKETSSPGTDDVFTP
APSDSPSSQRIQRCLSDPGPHPEPGEGEPFFPKGQ
|
| Enzyme 38 Number of Residues |
815 |
| Enzyme 38 Molecular Weight |
90764 |
| Enzyme 38 Theoretical pI |
7.22 |
| Enzyme 38 GO Classification |
| Function |
- cation transporter activity
- hydrogen ion transporter activity
- ion transporter activity
- monovalent cation:proton antiporter activity
- monovalent inorganic cation transporter activity
- sodium:hydrogen antiporter activity
- solute:cation antiporter activity
- solute:hydrogen antiporter activity
- transporter activity
|
| Process |
- cation transport
- cellular physiological process
- homeostasis
- ion homeostasis
- ion transport
- monovalent inorganic cation transport
- physiological process
- regulation of pH
- sodium ion transport
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 38 General Function |
Inorganic ion transport and metabolism |
| Enzyme 38 Specific Function |
Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction |
| Enzyme 38 Pathways |
Not Available |
| Enzyme 38 Reactions |
Not Available |
| Enzyme 38 Pfam Domain Function |
|
| Enzyme 38 Signals |
|
| Enzyme 38 Transmembrane Regions |
Not Available |
| Enzyme 38 Essentiality |
Not Available |
| Enzyme 38 GenBank ID Protein |
178753  |
| Enzyme 38 UniProtKB/Swiss-Prot ID |
P19634  |
| Enzyme 38 UniProtKB/Swiss-Prot Entry Name |
SL9A1_HUMAN  |
| Enzyme 38 PDB ID |
Not Available |
| Enzyme 38 Cellular Location |
Not Available |
| Enzyme 38 Gene Sequence |
>2448 bp
ATGGTTCTGCGGTCTGGCATCTGTGGCCTCTCTCCACATCGGATCTTCCCTTCCTTACTC
GTGGTGGTTGCTTTGGTGGGGCTGCTGCCTGTTCTCAGGAGCCATGGCCTCCAGCTCAGC
CCAACTGCCAGCACCATTCGAAGCTCAGAGCCACCACGAGAACGCTCGATTGGGGATGTC
ACCACCGCTCCACCGGAGGTCACCCCAGAGAGCCGCCCTGTTAATCATTCCGTCACTGAT
CATGGCATGAAGCCGCGCAAGGCCTTTCCAGTCCTGGGCATCGACTACACACACGTGCGC
ACCCCCTTCGAGATCTCCCTCTGGATCCTTCTGGCCTGCCTCATGAAGATAGGTTTCCAT
GTGATCCCCACTATCTCAAGCATCGTCCCGGAGAGCTGCCTGCTGATCGTGGTGGGGCTG
CTGGTGGGGGGCCTGATCAAGGGTGTAGGCGAGACACCCCCCTTCCTGCAGTCCGACGTC
TTCTTCCTCTTCCTGCTGCCGCCCATCATCCTGGATGCGGGCTACTTCCTGCCACTGCGG
CAGTTCACAGAAAACCTGGGCACCATCCTGATCTTTGCCGTGGTGGGCACGCTGTGGAAC
GCCTCCTTCCTGGGCGGCCTCATGTACGCCGTGTGCCTGGTGGGCGGTGAGCAGATCAAC
AACATCGGCCTCCTGGACAACCTGCTCTTCGGCAGCATCATCTCGGCCGTGGACCCCGTG
GCGGTTCTGGCTGTCTTTGAGGAAATTCACATCAATGAGCTGCTGCACATCCTTGTTTTT
GGGGAGTCCTTGCTCAATGACGCCGTCACTGTGGTCCTGTATCACCTCTTTGAGGAGTTT
GCCAACTACGAACACTGTGGCATCGTGGACATCTTCCTCGGCTTCCTGAGCTTCTTCGTG
GTGGCCCTGGGCGGGGTGCTTGTGGGCGTGGTCTACGGGGTCATCGCAGCCTTCACCTCC
CGATTTACCTCCCACATCCGGGTCATCGAGCCGCTCTTCGTCTTCCTCTACAGCTACATG
GCCTACTTGTCAGCCGAGCTCTTCCACCTGTCAGGCATCATGGCGCTCATAGCCTCAGGA
GTGGTGATGCGCCCCTATGTGGAGGCCAACATCTCCCACAAGTCCCACACCACCATCAAA
TACTTCCTGAAGATGTGGAGCAGCGTCAGCGAGACCCTCATCTTCATCTTCCTCGGCGTC
TCCACGGTGGCCGGCTCCCACCACTGGAACTGGACCTTCGTCATCAGCACCCTGCTCTTC
TGCCTCATCGCCCGCGTGCTGGGGGTGCTGGGCCTGACCTGGTTCATCAACAAGTTCCGT
ATCGTGAAGCTGACCCCCAAGGACCAGTTCATCATCGCCTATGGGGGCCTGCGAGGGGCC
ATCGCCTTCTCTCTGGGCTACCTCCTGGACAAGAAGCACTTCCCCATGTGTGACCTGTTC
CTCACTGCCATCATCACTGTCATCTTCTTCACCGTCTTTGTGCAGGGCATGACCATTCGG
CCCCTGGTAGACCTGTTGGCTGTGAAGAAAAAGCAAGAGACGAAGCGCTCCATCAACGAA
GAGATCCACACACAGTTCCTGGACCACCTTCTGACAGGCATCGAAGACATCTGTGGCCAC
TACGGTCACCACCACTGGAAGGACAAGCTCAACCGGTTTAATAAGAAATATGTGAAGAAG
TGTCTGATAGCTGGCGAGCGCTCCAAGGAGCCCCAGCTCATTGCCTTCTACCACAAGATG
GAGATGAAGCAGGCCATCGAGCTGGTGGAGAGCGGGGGCATGGGCAAGATCCCCTCTGCC
GTCTCCACCGTCTCCATGCAGAACATCCACCCCAAGTCCCTGCCTTCCGAGCGCATCCTG
CCAGCACTGTCCAAGGACAACGAGGAGGAGATCCGCAAAATCCTGAGGAACAACTTGCAG
AAGACCAGGCAGCGGCTGCGGTCCTACAACAGACACACGCTGGTGGCAGACCCCTACGAG
GAAGCCTGGAACCAGATGCTGCTCCGGAGGCAGAAGGCCCGGCAGCTGGAGCAGAAGATC
AACAACTACCTGACGGTGCCAGCCCACAAGCTGGACTCACCCACCATGTCTCGGGCCCGC
ATCGGCTCAGACCCACTGGCCTATGAGCCGAAGGAGGACCTGCCTGTCATCACCATCGAC
CCGGCTTCCCCGCAGTCACCCGAGTCTGTGGACCTGGTGAATGAGGAGCTGAAGGGCAAA
GTCTTAGGGTTGAGCCGGGATCCTGCAAAGGTGGCTGAGGAGGACGAGGACGACGATGGG
GGCATCATGATGCGGAGCAAGGAGACTTCGTCCCCAGGAACCGACGATGTCTTCACCCCC
GCGCCCAGTGACAGCCCCAGCTCCCAGAGGATACAGCGCTGCCTCAGTGACCCAGGCCCA
CACCCTGAGCCTGGGGAGGGAGAACCGTCCTTCCCCAAGGGGCAGTAA
|
| Enzyme 38 GenBank Gene ID |
M81768  |
| Enzyme 38 GeneCard ID |
SLC9A1  |
| Enzyme 38 GenAtlas ID |
SLC9A1  |
| Enzyme 38 HGNC ID |
HGNC:11071  |
| Enzyme 38 Chromosome Location |
1 |
| Enzyme 38 Locus |
1p36.1-p35 |
| Enzyme 38 SNPs |
SNPJam Report  |
| Enzyme 38 General References |
- Sardet C, Franchi A, Pouyssegur J: Molecular cloning, primary structure, and expression of the human growth factor-activatable Na+/H+ antiporter. Cell. 1989 Jan 27;56(2):271-80. [PubMed
]
- Sardet C, Counillon L, Franchi A, Pouyssegur J: Growth factors induce phosphorylation of the Na+/H+ antiporter, glycoprotein of 110 kD. Science. 1990 Feb 9;247(4943):723-6. [PubMed
]
- Tse CM, Ma AI, Yang VW, Watson AJ, Levine S, Montrose MH, Potter J, Sardet C, Pouyssegur J, Donowitz M: Molecular cloning and expression of a cDNA encoding the rabbit ileal villus cell basolateral membrane Na+/H+ exchanger. EMBO J. 1991 Aug;10(8):1957-67. [PubMed
]
- Fliegel L, Dyck JR, Wang H, Fong C, Haworth RS: Cloning and analysis of the human myocardial Na+/H+ exchanger. Mol Cell Biochem. 1993 Aug 25;125(2):137-43. [PubMed
]
- Garden OA, Musk P, Worthington-White DA, Dewey MJ, Rich IN: Silent polymorphisms within the coding region of human sodium/hydrogen exchanger isoform-1 cDNA in peripheral blood mononuclear cells of leukemia patients: A comparison with healthy controls. Cancer Genet Cytogenet. 2000 Jul 1;120(1):37-43. [PubMed
]
- Pang T, Su X, Wakabayashi S, Shigekawa M: Calcineurin homologous protein as an essential cofactor for Na+/H+ exchangers. J Biol Chem. 2001 May 18;276(20):17367-72. Epub 2001 Feb 28. [PubMed
]
- Pang T, Wakabayashi S, Shigekawa M: Expression of calcineurin B homologous protein 2 protects serum deprivation-induced cell death by serum-independent activation of Na+/H+ exchanger. J Biol Chem. 2002 Nov 15;277(46):43771-7. Epub 2002 Sep 10. [PubMed
]
|
| Enzyme 38 Metabolite References |
Not Available |
|
Enzyme 39
[top]
|
| Enzyme 39 ID |
8117 |
| Enzyme 39 Name |
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 |
| Enzyme 39 Synonyms |
- Brain cyclic nucleotide-gated channel 2
- BCNG-2
|
| Enzyme 39 Gene Name |
HCN2 |
| Enzyme 39 Protein Sequence |
>Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2
MDARGGGGRPGESPGATPAPGPPPPPPPAPPQQQPPPPPPPAPPPGPGPAPPQHPPRAEA
LPPEAADEGGPRGRLRSRDSSCGRPGTPGAASTAKGSPNGECGRGEPQCSPAGPEGPARG
PKVSFSCRGAASGPAPGPGPAEEAGSEEAGPAGEPRGSQASFMQRQFGALLQPGVNKFSL
RMFGSQKAVEREQERVKSAGAWIIHPYSDFRFYWDFTMLLFMVGNLIIIPVGITFFKDET
TAPWIVFNVVSDTFFLMDLVLNFRTGIVIEDNTEIILDPEKIKKKYLRTWFVVDFVSSIP
VDYIFLIVEKGIDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDL
ASAVMRICNLISMMLLLCHWDGCLQFLVPMLQDFPRNCWVSINGMVNHSWSELYSFALFK
AMSHMLCIGYGRQAPESMTDIWLTMLSMIVGATCYAMFIGHATALIQSLDSSRRQYQEKY
KQVEQYMSFHKLPADFRQKIHDYYEHRYQGKMFDEDSILGELNGPLREEIVNFNCRKLVA
SMPLFANADPNFVTAMLTKLKFEVFQPGDYIIREGTIGKKMYFIQHGVVSVLTKGNKEMK
LSDGSYFGEICLLTRGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVAIDRL
DRIGKKNSILLHKVQHDLNSGVFNNQENAIIQEIVKYDREMVQQAELGQRVGLFPPPPPP
PQVTSAIATLQQAAAMSFCPQVARPLVGPLALGSPRLVRRPPPGPAPAAASPGPPPPASP
PGAPASPRAPRTSPYGGLPAAPLAGPALPARRLSRASRPLSASQPSLPHGAPGPAASTRP
ASSSTPRLGPTPAARAAAPSPDRRDSASPGAAGGLDPQDSARSRLSSNL
|
| Enzyme 39 Number of Residues |
889 |
| Enzyme 39 Molecular Weight |
96951 |
| Enzyme 39 Theoretical pI |
9.21 |
| Enzyme 39 GO Classification |
| Function |
- ion channel activity
- ion transporter activity
- transporter activity
- voltage-gated ion channel activity
- voltage-gated potassium channel activity
|
| Process |
- cation transport
- cellular physiological process
- ion transport
- monovalent inorganic cation transport
- physiological process
- potassium ion transport
- transport
|
| Component |
|
|
| Enzyme 39 General Function |
Signal transduction mechanisms |
| Enzyme 39 Specific Function |
Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Produces a large instantaneous current. Activated by cAMP. Modulated by intracellular chloride ions and pH; acidic pH shifts the activation to more negative voltages |
| Enzyme 39 Pathways |
Not Available |
| Enzyme 39 Reactions |
Not Available |
| Enzyme 39 Pfam Domain Function |
|
| Enzyme 39 Signals |
|
| Enzyme 39 Transmembrane Regions |
- 216-236
241-261
289-309
318-338
370-390
414-435
441-461
|
| Enzyme 39 Essentiality |
Not Available |
| Enzyme 39 GenBank ID Protein |
4996894  |
| Enzyme 39 UniProtKB/Swiss-Prot ID |
Q9UL51  |
| Enzyme 39 UniProtKB/Swiss-Prot Entry Name |
HCN2_HUMAN  |
| Enzyme 39 PDB ID |
Not Available |
| Enzyme 39 Cellular Location |
Not Available |
| Enzyme 39 Gene Sequence |
>2670 bp
ATGGACGCGCGCGGGGGCGGCGGGCGGCCCGGGGAGAGCCCGGGCGCGAGCCCCACGACC
GGGCCGCCGCCGCCGCCGCCCCCGCGCCCCCCCAAACAGCAGCCGCCGCCGCCGCCGCCG
CCCGCGCCCCCCCCGGGCCCCGGGCCCGCGCCCCCCCAGCACCCGCCCCGGGCCGAGGCG
TTGCCCCCGGAGGCGGCGGATGAGGGCGGCCCGCGGGGCCGGCTCCGCAGCCGCGACAGC
TCGTGCGGCCGCCCCGGCACCCCGGGCGCGGCGAGCACGGCCAAGGGCAGCCCGAACGGC
GAGTGCGGGCGCGGCGAGCCGCAGTGCAGCCCCGCGGGGCCCGAGGGCCCGGCGCGGGGG
CCCAAGGTGTCGTTCTCGTGCCGCGGGGCGGCCTCGGGGCCCGCGCCGGGGCCGGGGCCG
GCGGAGGAGGCGGGCAGCGAGGAGGCGGGCCCGGCGGGGGAGCCGCGCGGCAGCCAGGCC
AGCTTCATGCAGCGCCAGTTCGGCGCGCTCCTGCAGCCGGGCGTCAACAAGTTCTCGCTG
CGGATGTTCGGCAGCCAGAAGGCCGTGGAGCGCGAGCAGGAGCGCGTCAAGTCGGCGGGG
GCCTGGATCATCCACCCGTACAGCGACTTCAGGTTCTACTGGGACTTCACCATGCTGCTG
TTCATGGTGGGAAACCTCATCATCATCCCAGTGGGCATCACCTTCTTCAAGGATGAGACC
ACTGCCCCGTGGATCGTGTTCAACGTGGTCTCGGACACCTTCTTCCTCATGGACCTGGTG
TTGAACTTCCGCACCGGCATTGTGATCGAGGACAACACGGAGATCATCCTGGACCCCGAG
AAGATCAAGAAGAAGTATCTGCGCACGTGGTTCGTGGTGGACTTCGTGTCCTCCATCCCC
GTGGACTACATCTTCCTTATCGTGGAGAAGGGCATTGACTCCGAGGTCTACAAGACGGCA
CGCGCCCTGCGCATCGTGCGCTTCACCAAGATCCTCAGCCTCCTGCGGCTGCTGCGCCTC
TCACGCCTGATCCGCTACATCCATCAGTGGGAGGAGATCTTCCACATGACCTATGACCTG
GCCAGCGCGGTGATGAGGATCTGCAATCTCATCAGCATGATGCTGCTGCTCTGCCACTGG
GACGGCTGCCTGCAGTTCCTGGTGCCTATGCTGCAGGACTTCCCGCGCAACTGCTGGGTG
TCCATCAATGGCATGGTGAACCACTCGTGGAGTGAACTGTACTCCTTCGCACTCTTCAAG
GCCATGAGCCACATGCTGTGCATCGGGTACGGCCGGCAGGCGCCCGAGAGCATGACGGAC
ATCTGGCTGACCATGCTCAGCATGATTGTGGGTGCCACCTGCTACGCCATGTTCATCGGC
CACGCCACTGCCCTCATCCAGTCGCTGGACTCCTCGCGGCGCCAGTACCAGGAGAAGTAC
AAGCAGGTGGAGCAGTACATGTCCTTCCACAAGCTGCCAGCTGACTTCCGCCAGAAGATC
CACGACTACTATGAGCACCGTTACCAGGGCAAGATGTTTGACGAGGACAGCATCCTGGGC
GAGCTCAACGGGCCCCTGCGGGAGGAGATCGTCAACTTCAACTGCCGGAAGCTGGTGGCC
TCCATGCCGCTGTTCGCCAACGCCGACCCCAACTTCGTCACGGCCATGCTGACCAAGCTC
AAGTTCGAGGTCTTCCAGCCGGGTGACTACATCATCCGCGAAGGCACCATCGGGAAGAAG
ATGTACTTCATCCAGCACGGCGTGGTCAGCGTGCTCACTAAGGGCAACAAGGAGATGAAG
CTGTCCGATGGCTCCTACTTCGGGGAGATCTGCCTGCTCACCCGGGGCCGCCGCACGGCG
AGCGTGCGGGCTGACACCTACTGCCGCCTCTATTCGCTGAGCGTGGACAACTTCAACGAG
GTGCTGGAGGAGTACCCCATGATGCGGCGCGCCTTCGAGACGGTGGCCATCGACCGCCTG
GACCGCATCGGCAAGAAGAATTCCATCCTCCTGCACAAGGTGCAGCATGACCTCAACTCG
GGCGTATTCAACAACCAGGAGAACGCCATCATCCAGGAGATCGTCAAGTACGACCGCGAG
ATGGTGCAGCAGGCCGAGCTGGGTCAGCGCGTGGGCCTCTTCCCGCCGCCGCCGCCGCCG
CCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGCCCG
CAGGTGGCGCGGCCGCTCGTGGGGCCGCTGGCGCTCGGCTCGCCGCGCCTCGTGCGCCGC
CCGCCCCCGGGGCCCGCACCTGCCGCCGCCTCACCCGGGCCCCCGCCCCCCGCCAGCCCC
CCGGGCGCGCCCGCCAGCCCCCGGGCACCGCGGACCTCGCCCTACGGCGGCCTGCCCGCC
GCCCCCCTTGCTGGGCCCGCCCTGCCCGCGCGCCGCCTGAGCCGCGCGTCGCGCCCACTG
TCCGCCTCGCAGCCCTCGCTGCCTCACGGCGCCCCCGGCCCCGCGGCCTCCACACGCCCG
GCCAGCAGCTCCACACCGCGCTTGGGGCCCACGCCCGCTGCCCGGGCCGCCGCGCCCAGC
CCGGACCGCAGGGACTCGGCCTCACCCGGCGCCGCCGGCGGCCTGGACCCCCAGGACTCC
GCGCGCTCGCGCCTCTCGTCCAACTTGTGA
|
| Enzyme 39 GenBank Gene ID |
AF065164  |
| Enzyme 39 GeneCard ID |
HCN2  |
| Enzyme 39 GenAtlas ID |
HCN2  |
| Enzyme 39 HGNC ID |
HGNC:4846  |
| Enzyme 39 Chromosome Location |
19 |
| Enzyme 39 Locus |
19p13.3 |
| Enzyme 39 SNPs |
SNPJam Report  |
| Enzyme 39 General References |
- Vaccari T, Moroni A, Rocchi M, Gorza L, Bianchi ME, Beltrame M, DiFrancesco D: The human gene coding for HCN2, a pacemaker channel of the heart. Biochim Biophys Acta. 1999 Sep 3;1446(3):419-25. [PubMed
]
- Ludwig A, Zong X, Stieber J, Hullin R, Hofmann F, Biel M: Two pacemaker channels from human heart with profoundly different activation kinetics. EMBO J. 1999 May 4;18(9):2323-9. [PubMed
]
- Santoro B, Liu DT, Yao H, Bartsch D, Kandel ER, Siegelbaum SA, Tibbs GR: Identification of a gene encoding a hyperpolarization-activated pacemaker channel of brain. Cell. 1998 May 29;93(5):717-29. [PubMed
]
|
| Enzyme 39 Metabolite References |
Not Available |
|
Enzyme 40
[top]
|
| Enzyme 40 ID |
8120 |
| Enzyme 40 Name |
Sodium-dependent multivitamin transporter |
| Enzyme 40 Synonyms |
- Na(+-dependent multivitamin transporter
|
| Enzyme 40 Gene Name |
SLC5A6 |
| Enzyme 40 Protein Sequence |
>Sodium-dependent multivitamin transporter
MSVGVSTSAPLSPTSGTSVGMSTFSIMDYVVFVLLLVLSLAIGLYHACRGWGRHTVGELL
MADRKMGCLPVALSLLATFQSAVAILGVPSEIYRFGTQYWFLGCCYFLGLLIPAHIFIPV
FYRLHLTSAYEYLELRFNKTVRVCGTVTFIFQMVIYMGVVLYAPSLALNAVTGFDLWLSV
LALGIVCTVYTALGGLKAVIWTDVFQTLVMFLGQLAVIIVGSAKVGGLGRVWAVASQHGR
ISGFELDPDPFVRHTFWTLAFGGVFMMLSLYGVNQAQVQRYLSSRTEKAAVLSCYAVFPF
QQVSLCVGCLIGLVMFAYYQEYPMSIQQAQAAPDQFVLYFVMDLLKGLPGLPGLFIACLF
SGSLSTISSAFNSLATVTMEDLIRPWFPEFSEARAIMLSRGLAFGYGLLCLGMAYISSQM
GPVLQAAISIFGMVGGPLLGLFCLGMFFPCANPPGAVVGLLAGLVMAFWIGIGSIVTSMG
FSMPPSPSNGSSFSLPTNLTVATVTTLMPLTTFSKPTGLQRFYSLSYLWYSAHNSTTVIV
VGLIVSLLTGRMRGRSLNPATIYPVLPKLLSLLPLSCQKRLHCRSYGQDHLDTGLFPEKP
RNGVLGDSRDKEAMALDGTAYQGSSSTCILQETSL
|
| Enzyme 40 Number of Residues |
635 |
| Enzyme 40 Molecular Weight |
68703 |
| Enzyme 40 Theoretical pI |
8.32 |
| Enzyme 40 GO Classification |
| Function |
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
|
|
| Enzyme 40 General Function |
Amino acid transport and metabolism |
| Enzyme 40 Specific Function |
Transports pantothenate, biotin and lipoate in the presence of sodium |
| Enzyme 40 Pathways |
Not Available |
| Enzyme 40 Reactions |
Not Available |
| Enzyme 40 Pfam Domain Function |
|
| Enzyme 40 Signals |
|
| Enzyme 40 Transmembrane Regions |
- 24-44
68-88
101-121
143-163
176-196
199-219
256-276
297-317
336-356
396-416
428-448
456-476
528-548
|
| Enzyme 40 Essentiality |
Not Available |
| Enzyme 40 GenBank ID Protein |
5006439  |
| Enzyme 40 UniProtKB/Swiss-Prot ID |
Q9Y289  |
| Enzyme 40 UniProtKB/Swiss-Prot Entry Name |
SC5A6_HUMAN  |
| Enzyme 40 PDB ID |
Not Available |
| Enzyme 40 Cellular Location |
Not Available |
| Enzyme 40 Gene Sequence |
>1908 bp
ATGAGTGTAGGGGTGAGCACCTCAGCCCCTCTTTCCCCAACCTCGGGCACAAGCGTGGGC
ATGTCTACCTTCTCCATCATGGACTATGTGGTGTTCGTCCTGCTGCTGGTTCTCTCTCTT
GCCATTGGGCTCTACCATGCTTGTCGTGGCTGGGGCCGGCATACTGTTGGTGAGCTGCTG
ATGGCGGACCGCAAAATGGGCTGCCTTCCGGTGGCACTGTCCCTGCTGGCCACCTTCCAG
TCAGCCGTGGCCATCCTGGGTGTGCCGTCAGAGATCTACCGATTTGGGACCCAATATTGG
TTCCTGGGCTGCTGCTACTTTCTGGGGCTGCTGATACCTGCACACATCTTCATCCCCGTT
TTCTACCGCCTGCATCTCACCAGTGCCTATGAGTACCTGGAGCTTCGATTCAATAAAACT
GTGCGAGTGTGTGGAACTGTGACCTTCATCTTTCAGATGGTGATCTACATGGGAGTTGTG
CTCTATGCTCCGTCATTGGCTCTCAATGCAGTGACTGGCTTTGATCTGTGGCTGTCCGTG
CTGGCCCTGGGCATTGTCTGTACCGTCTATACAGCTCTGGGTGGGCTGAAGGCCGTCATC
TGGACAGATGTGTTCCAGACACTGGTCATGTTCCTCGGGCAGCTGGCAGTTATCATCGTG
GGGTCAGCCAAGGTGGGCGGCTTGGGGCGTGTGTGGGCCGTGGCTTCCCAGCACGGCCGC
ATCTCTGGGTTTGAGCTGGATCCAGACCCCTTTGTGCGGCACACCTTCTGGACCTTGGCC
TTCGGGGGTGTCTTCATGATGCTCTCCTTATACGGGGTGAACCAGGCTCAGGTGCAGCGG
TACCTCAGTTCCCGCACGGAGAAGGCTGCTGTGCTCTCCTGTTATGCAGTGTTCCCCTTC
CAGCAGGTGTCCCTCTGCGTGGGCTGCCTCATTGGCCTGGTCATGTTCGCGTATTACCAG
GAGTATCCCATGAGCATTCAGCAGGCTCAGGCAGCCCCAGACCAGTTCGTCCTGTACTTT
GTGATGGATCTCCTGAAGGGCCTGCCAGGCCTGCCAGGGCTCTTCATTGCCTGCCTCTTC
AGCGGCTCTCTCAGCACTATATCCTCTGCTTTTAATTCATTGGCAACTGTTACGATGGAA
GACCTGATTCGACCTTGGTTCCCTGAGTTCTCTGAAGCCCGGGCCATCATGCTTTCCAGA
GGCCTTGCCTTTGGCTATGGGCTGCTTTGTCTAGGAATGGCCTATATTTCCTCCCAGATG
GGACCTGTGCTGCAGGCAGCAATCAGCATCTTTGGCATGGTTGGGGGACCGCTGCTGGGA
CTCTTCTGCCTTGGAATGTTCTTTCCATGTGCTAACCCTCCTGGTGCTGTTGTGGGCCTG
TTGGCTGGGCTCGTCATGGCCTTCTGGATTGGCATCGGGAGCATCGTGACCAGCATGGGC
TTCAGCATGCCACCCTCTCCCTCTAATGGGTCCAGCTTCTCCCTGCCCACCAATCTAACC
GTTGCCACTGTGACCACACTGATGCCCTTGACTACCTTCTCCAAGCCCACAGGGCTGCAG
CGGTTCTATTCCTTGTCTTACTTATGGTACAGTGCTCACAACTCCACCACAGTGATTGTG
GTGGGCCTGATTGTCAGTCTACTCACTGGGAGAATGCGAGGCCGGTCCCTGAACCCTGCA
ACCATTTACCCAGTGTTGCCAAAGCTCCTGTCCCTCCTTCCGTTGTCCTGTCAGAAGCGG
CTCCACTGCAGGAGCTACGGCCAGGACCACCTCGACACTGGCCTGTTTCCTGAGAAGCCG
AGGAATGGTGTGCTGGGGGACAGCAGAGACAAGGAGGCCATGGCCCTGGATGGCACAGCC
TATCAGGGGAGCAGCTCCACCTGCATCCTCCAGGAGACCTCCCTGTGA
|
| Enzyme 40 GenBank Gene ID |
AF116241  |
| Enzyme 40 GeneCard ID |
SLC5A6  |
| Enzyme 40 GenAtlas ID |
SLC5A6  |
| Enzyme 40 HGNC ID |
HGNC:11041  |
| Enzyme 40 Chromosome Location |
2 |
| Enzyme 40 Locus |
2p23 |
| Enzyme 40 SNPs |
SNPJam Report  |
| Enzyme 40 General References |
- Wang H, Huang W, Fei YJ, Xia H, Yang-Feng TL, Leibach FH, Devoe LD, Ganapathy V, Prasad PD: Human placental Na+-dependent multivitamin transporter. Cloning, functional expression, gene structure, and chromosomal localization. J Biol Chem. 1999 May 21;274(21):14875-83. [PubMed
]
- Prasad PD, Wang H, Huang W, Fei YJ, Leibach FH, Devoe LD, Ganapathy V: Molecular and functional characterization of the intestinal Na+-dependent multivitamin transporter. Arch Biochem Biophys. 1999 Jun 1;366(1):95-106. [PubMed
]
|
| Enzyme 40 Metabolite References |
Not Available |
|
Enzyme 41
[top]
|
| Enzyme 41 ID |
8123 |
| Enzyme 41 Name |
Renin precursor |
| Enzyme 41 Synonyms |
- Angiotensinogenase
|
| Enzyme 41 Gene Name |
REN |
| Enzyme 41 Protein Sequence |
>Renin precursor
MDGWRRMPRWGLLLLLWGSCTFGLPTDTTTFKRIFLKRMPSIRESLKERGVDMARLGPEW
SQPMKRLTLGNTTSSVILTNYMDTQYYGEIGIGTPPQTFKVVFDTGSSNVWVPSSKCSRL
YTACVYHKLFDASDSSSYKHNGTELTLRYSTGTVSGFLSQDIITVGGITVTQMFGEVTEM
PALPFMLAEFDGVVGMGFIEQAIGRVTPIFDNIISQGVLKEDVFSFYYNRDSENSQSLGG
QIVLGGSDPQHYEGNFHYINLIKTGVWQIQMKGVSVGSSTLLCEDGCLALVDTGASYISG
STSSIEKLMEALGAKKRLFDYVVKCNEGPTLPDISFHLGGKEYTLTSADYVFQESYSSKK
LCTLAIHAMDIPPPTGPTWALGATFIRKFYTEFDRRNNRIGFALAR
|
| Enzyme 41 Number of Residues |
406 |
| Enzyme 41 Molecular Weight |
45058 |
| Enzyme 41 Theoretical pI |
7.07 |
| Enzyme 41 GO Classification |
| Function |
- aspartic-type endopeptidase activity
- catalytic activity
- endopeptidase activity
- hydrolase activity
- pepsin A activity
- peptidase activity
|
| Process |
- cellular protein metabolism
- macromolecule metabolism
- metabolism
- physiological process
- protein metabolism
- proteolysis
|
| Component |
| — |
|
| Enzyme 41 General Function |
Not Available |
| Enzyme 41 Specific Function |
Renin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retention by the kidney |
| Enzyme 41 Pathways |
Not Available |
| Enzyme 41 Reactions |
- Cleavage of Leu-|- bond in angiotensinogen to generate angiotensin I
|
| Enzyme 41 Pfam Domain Function |
|
| Enzyme 41 Signals |
|
| Enzyme 41 Transmembrane Regions |
Not Available |
| Enzyme 41 Essentiality |
Not Available |
| Enzyme 41 GenBank ID Protein |
190994  |
| Enzyme 41 UniProtKB/Swiss-Prot ID |
P00797  |
| Enzyme 41 UniProtKB/Swiss-Prot Entry Name |
RENI_HUMAN  |
| Enzyme 41 PDB ID |
1BBS  |
| Enzyme 41 PDB File |
Show |
| Enzyme 41 3D Structure |
|
| Enzyme 41 Cellular Location |
Not Available |
| Enzyme 41 Gene Sequence |
>1221 bp
ATGGATGGATGGAGAAGGATGCCTCGCTGGGGACTGCTGCTGCTGCTCTGGGGCTCCTGT
ACCTTTGGTCTCCCGACAGACACCACCACCTTTAAACGGATCTTCCTCAAGAGAATGCCC
TCAATCCGAGAAAGCCTGAAGGAACGAGGTGTGGACATGGCCAGGCTTGGTCCCGAGTGG
AGCCAACCCATGAAGAGGCTGACACTTGGCAACACCACCTCCTCCGTGATCCTCACCAAC
TACATGGACACCCAGTACTATGGCGAGATTGGCATCGGCACCCCACCCCAGACCTTCAAA
GTCGTCTTTGACACTGGTTCGTCCAATGTTTGGGTGCCCTCCTCCAAGTGCAGCCGTCTC
TACACTGCCTGTGTGTATCACAAGCTCTTCGATGCTTCGGATTCCTCCAGCTACAAGCAC
AATGGAACAGAACTCACCCTCCGCTATTCAACAGGGACAGTCAGTGGCTTTCTCAGCCAG
GACATCATCACCGTGGGTGGAATCACGGTGACACAGATGTTTGGAGAGGTCACGGAGATG
CCCGCCTTACCCTTCATGCTGGCCGAGTTTGATGGGGTTGTGGGCATGGGCTTCATTGAA
CAGGCCATTGGCAGGGTCACCCCTATCTTCGACAACATCATCTCCCAAGGGGTGCTAAAA
GAGGACGTCTTCTCTTTCTACTACAACAGAGATTCCGAGAATTCCCAATCGCTGGGAGGA
CAGATTGTGCTGGGAGGCAGCGACCCCCAGCATTACGAAGGGAATTTCCACTATATCAAC
CTCATCAAGACTGGTGTCTGGCAGATTCAAATGAAGGGGGTGTCTGTGGGGTCATCCACC
TTGCTCTGTGAAGACGGCTGCCTGGCATTGGTAGACACCGGTGCATCCTACATCTCAGGT
TCTACCAGCTCCATAGAGAAGCTCATGGAGGCCTTGGGAGCCAAGAAGAGGCTGTTTGAT
TATGTCGTGAAGTGTAACGAGGGCCCTACACTCCCCGACATCTCTTTCCACCTGGGAGGC
AAAGAATACACGCTCACCAGCGCGGACTATGTATTTCAGGAATCCTACAGTAGTAAAAAG
CTGTGCACACTGGCCATCCACGCCATGGATATCCCGCCACCCACTGGACCCACCTGGGCC
CTGGGGGCCACCTTCATCCGAAAGTTCTACACAGAGTTTGATCGGCGTAACAACCGCATT
GGCTTCGCCTTGGCCCGCTGA
|
| Enzyme 41 GenBank Gene ID |
L00073  |
| Enzyme 41 GeneCard ID |
REN  |
| Enzyme 41 GenAtlas ID |
REN  |
| Enzyme 41 HGNC ID |
HGNC:9958  |
| Enzyme 41 Chromosome Location |
1 |
| Enzyme 41 Locus |
1q32 |
| Enzyme 41 SNPs |
SNPJam Report  |
| Enzyme 41 General References |
- Imai T, Miyazaki H, Hirose S, Hori H, Hayashi T, Kageyama R, Ohkubo H, Nakanishi S, Murakami K: Cloning and sequence analysis of cDNA for human renin precursor. Proc Natl Acad Sci U S A. 1983 Dec;80(24):7405-9. [PubMed
]
- Morris BJ: New possibilities for intracellular renin and inactive renin now that the structure of the human renin gene has been elucidated. Clin Sci (Lond). 1986 Oct;71(4):345-55. [PubMed
]
- Hardman JA, Hort YJ, Catanzaro DF, Tellam JT, Baxter JD, Morris BJ, Shine J: Primary structure of the human renin gene. DNA. 1984 Dec;3(6):457-68. [PubMed
]
- Soubrier F, Panthier JJ, Corvol P, Rougeon F: Molecular cloning and nucleotide sequence of a human renin cDNA fragment. Nucleic Acids Res. 1983 Oct 25;11(20):7181-90. [PubMed
]
- Fukamizu A, Nishi K, Nishimatsu S, Miyazaki H, Hirose S, Murakami K: Human renin gene of renin-secreting tumor. Gene. 1986;49(1):139-45. [PubMed
]
- Burt DW, Nakamura N, Kelley P, Dzau VJ: Identification of negative and positive regulatory elements in the human renin gene. J Biol Chem. 1989 May 5;264(13):7357-62. [PubMed
]
- Soubrier F, Panthier JJ, Houot AM, Rougeon F, Corvol P: Segmental homology between the promoter region of the human renin gene and the mouse ren1 and ren2 promoter regions. Gene. 1986;41(1):85-92. [PubMed
]
- Ishizuka Y, Shoda A, Yoshida S, Kawamura Y, Haraguchi K, Murakami K: Isolation and characterization of recombinant human prorenin in Chinese hamster ovary cells. J Biochem (Tokyo). 1991 Jan;109(1):30-5. [PubMed
]
- Nguyen G, Delarue F, Burckle C, Bouzhir L, Giller T, Sraer JD: Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin. J Clin Invest. 2002 Jun;109(11):1417-27. [PubMed
]
- Sielecki AR, Hayakawa K, Fujinaga M, Murphy ME, Fraser M, Muir AK, Carilli CT, Lewicki JA, Baxter JD, James MN: Structure of recombinant human renin, a target for cardiovascular-active drugs, at 2.5 A resolution. Science. 1989 Mar 10;243(4896):1346-51. [PubMed
]
- Dhanaraj V, Dealwis CG, Frazao C, Badasso M, Sibanda BL, Tickle IJ, Cooper JB, Driessen HP, Newman M, Aguilar C, et al.: X-ray analyses of peptide-inhibitor complexes define the structural basis of specificity for human and mouse renins. Nature. 1992 Jun 11;357(6378):466-72. [PubMed
]
|
| Enzyme 41 Metabolite References |
Not Available |
|
Enzyme 42
[top]
|
| Enzyme 42 ID |
8137 |
| Enzyme 42 Name |
Mineralocorticoid receptor |
| Enzyme 42 Synonyms |
- MR
|
| Enzyme 42 Gene Name |
NR3C2 |
| Enzyme 42 Protein Sequence |
>Mineralocorticoid receptor
METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNST
QGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYE
QQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAI
VKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPN
AENRGSRSHSPAHASNVGSPLSSPLSSMKSSISSPPSHCSVKSPVSSPNNVTLRSSVSSP
ANINNSRCSVSSPSNTNNRSTLSSPAASTVGSICSPVNNAFSYTASGTSAGSSTLRDVVP
SPDTQEKGAQEVPFPKTEEVESAISNGVTGQLNIVQYIKPEPDGAFSSSCLGGNSKINSD
SSFSVPIKQESTKHSCSGTSFKGNPTVNPFPFMDGSYFSFMDDKDYYSLSGILGPPVPGF
DGNCEGSGFPVGIKQEPDDGSYYPEASIPSSAIVGVNSGGQSFHYRIGAQGTISLSRSAR
DQSFQHLSSFPPVNTLVESWKSHGDLSSRRSDGYPVLEYIPENVSSSTLRSVSTGSSRPS
KICLVCGDEASGCHYGVVTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRL
QKCLQAGMNLGARKSKKLGKLKGIHEEQPQQQQPPPPPPPPQSPEEGTTYIAPAKEPSVN
TALVPQLSTISRALTPSPVMVLENIEPEIVYAGYDSSKPDTAENLLSTLNRLAGKQMIQV
VKWAKVLPGFKNLPLEDQITLIQYSWMCLSSFALSWRSYKHTNSQFLYFAPDLVFNEEKM
HQSAMYELCQGMHQISLQFVRLQLTFEEYTIMKVLLLLSTIPKDGLKSQAAFEEMRTNYI
KELRKMVTKCPNNSGQSWQRFYQLTKLLDSMHDLVSDLLEFCFYTFRESHALKVEFPAML
VEIISDQLPKVESGNAKPLYFHRK
|
| Enzyme 42 Number of Residues |
984 |
| Enzyme 42 Molecular Weight |
107068 |
| Enzyme 42 Theoretical pI |
7.42 |
| Enzyme 42 GO Classification |
| Function |
- DNA binding
- binding
- ligand-dependent nuclear receptor activity
- nucleic acid binding
- receptor activity
- signal transducer activity
- steroid hormone receptor activity
- transcription factor activity
|
| Process |
- regulation of biological process
- regulation of cellular metabolism
- regulation of metabolism
- regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism
- regulation of physiological process
- regulation of transcription
- regulation of transcription, DNA-dependent
|
| Component |
- intracellular membrane-bound organelle
- membrane-bound organelle
- nucleus
- organelle
|
|
| Enzyme 42 General Function |
Carbohydrate transport and metabolism |
| Enzyme 42 Specific Function |
Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels |
| Enzyme 42 Pathways |
Not Available |
| Enzyme 42 Reactions |
Not Available |
| Enzyme 42 Pfam Domain Function |
|
| Enzyme 42 Signals |
|
| Enzyme 42 Transmembrane Regions |
|
| Enzyme 42 Essentiality |
Not Available |
| Enzyme 42 GenBank ID Protein |
307166  |
| Enzyme 42 UniProtKB/Swiss-Prot ID |
P08235  |
| Enzyme 42 UniProtKB/Swiss-Prot Entry Name |
MCR_HUMAN  |
| Enzyme 42 PDB ID |
Not Available |
| Enzyme 42 Cellular Location |
Not Available |
| Enzyme 42 Gene Sequence |
>2955 bp
ATGGAGACCAAAGGCTACCACAGTCTCCCTGAAGGTCTAGATATGGAAAGACGGTGGGGT
CAAGTTTCTCAGGCTGTGGAGCGTTCTTCCCTGGGACCTACAGAGAGGACCGATGAGAAT
AACTACATGGAGATTGTCAACGTAAGCTGTGTTTCCGGTGCTATTCCAAACAACAGTACT
CAAGGAAGCAGCAAAGAAAAACAAGAACTACTCCCTTGCCTTCAGCAAGACAATAATCGG
CCTGGGATTTTAACATCTGATATTAAAACTGAGCTGGAATCTAAGGAACTTTCAGCAACT
GTAGCTGAGTCCATGGGTTTATATATGGATTCTGTAAGAGATGCTGACTATTCCTATGAG
CAGCAGAACCAACAAGGAAGCATGAGTCCAGCTAAGATTTATCAGAATGTTGAACAGCTG
GTGAAATTTTACAAAGGAAATGGCCATCGTCCTTCCACTCTAAGTTGTGTGAACACGCCC
TTGAGATCATTTATGTCTGACTCTGGGAGCTCCGTGAATGGTGGCGTCATGCGCGCCATT
GTTAAAAGCCCTATCATGTGTCATGAGAAAAGCCCGTCTGTTTGCAGCCCTCTGAACATG
ACATCTTCGGTTTGCAGCCCTGCTGGAATCAACTCTGTGTCCTCCACCACAGCCAGCTTT
GGCAGTTTTCCAGTGCACAGCCCAATCACCCAGGGAACTCCTCTGACATGCTCCCCTAAT
GCTGAAAATCGAGGCTCCAGGTCGCACAGCCCTGCACATGCTAGCAATGTGGGCTCTCCT
CTCTCAAGTCCGTTAAGTAGCATGAAATCCTCAATTTCCAGCCCTCCAAGTCACTGCAGT
GTAAAATCTCCAGTCTCCAGTCCCAATAATGTCACTCTGAGATCCTCTGTGTCTAGCCCT
GCAAATATTAACAACTCAAGGTGCTCTGTTTCCAGCCCTTCGAACACTAATAACAGATCC
ACGCTTTCCAGTCCGGCAGCCAGTACTGTGGGATCTATCTGTAGCCCTGTAAACAATGCC
TTCAGCTACACTGCTTCTGGCACCTCTGCTGGATCCAGTACATTGCGGGATGTGGTTCCC
AGTCCAGACACGCAGGAGAAAGGTGCTCAAGAGGTCCCTTTTCCTAAGACTGAGGAAGTA
GAGAGTGCCATCTCAAATGGTGTGACTGGCCAGCTTAATATTGTCCAGTACATAAAACCA
GAACCAGATGGAGCTTTTAGCAGCTCATGTCTAGGAGGAAATAGCAAAATAAATTCGGAT
TCTTCATTCTCAGTACCAATAAAGCAAGAATCAACCAAGCATTCATGTTCAGGCACCTCT
TTTAAAGGGAATCCAACAGTAAACCCGTTTCCATTTATGGATGGCTCGTATTTTTCCTTT
ATGGATGATAAAGACTATTATTCCCTATCAGGAATTTTAGGACCACCTGTGCCCGGCTTT
GATGGTAACTGTGAAGGCAGCGGATTCCCAGTGGGTATTAAACAAGAACCAGATGACGGG
AGCTATTACCCAGAGGCCAGCATCCCTTCCTCTGCTATTGTTGGGGTGAATTCAGGTGGA
CAGTCCTTCCACTACAGGATTGGTGCTCAAGGTACAATATCTTTATCACGATCGGCTAGA
GACCAATCTTTCCAACACCTGAGTTCCTTTCCTCCTGTCAATACTTTAGTGGAGTCATGG
AAATCACACGGCGACCTGTCGTCTAGAAGAAGTGATGGGTATCCGGTCTTAGAATACATT
CCAGAAAATGTATCAAGCTCTACTTTACGAAGTGTTTCTACTGGATCTTCAAGACCTTCA
AAAATATGTTTGGTGTGTGGGGATGAGGCTTCAGGATGCCATTATGGGGTAGTCACCTGT
GGCAGCTGCAAAGTTTTCTTCAAAAGAGCAGTGGAAGGGCAACACAACTATTTATGTGCT
GGAAGAAATGATTGCATCATTGATAAGATTCGACGAAAGAATTGTCCTGCTTGCAGACTT
CAGAAATGTCTTCAAGCTGGAATGAATTTAGGAGCACGAAAGTCAAAGAAGTTGGGAAAG
TTAAAAGGGATTCACGAGGAGCAGCCACAGCAGCAGCAGCCCCCACCCCCACCCCCACCC
CCGCAAAGCCCAGAGGAAGGGACAACGTACATCGCTCCTGCAAAAGAACCCTCGGTCAAC
ACAGCACTGGTTCCTCAGCTCTCCACAATCTCACGAGCGCTCACACCTTCCCCCGTTATG
GTCCTTGAAAACATTGAACCTGAAATTGTATATGCAGGCTATGACAGCTCAAAACCAGAT
ACAGCCGAAAATCTGCTCTCCACGCTCAACCGCTTAGCAGGCAAACAGATGATCCAAGTC
GTGAAGTGGGCAAAGGTACTTCCAGGATTTAAAAACTTGCCTCTTGAGGACCAAATTACC
CTAATCCAGTATTCTTGGATGTGTCTATCATCATTTGCCTTGAGCTGGAGATCGTACAAA
CATACGAACAGCCAATTTCTCTATTTTGCACCAGACCTAGTCTTTAATGAAGAGAAGATG
CATCAGTCTGCCATGTATGAACTATGCCAGGGGATGCACCAAATCAGCCTTCAGTTCGTT
CGACTGCAGCTCACCTTTGAAGAATACACCATCATGAAAGTTTTGCTGCTACTAAGCACA
ATTCCAAAGGATGGCCTCAAAAGCCAGGCTGCATTTGAAGAAATGAGGACAAATTACATC
AAAGAACTGAGGAAGATGGTAACTAAGTGTCCCAACAATTCTGGGCAGAGCTGGCAGAGG
TTCTACCAACTGACCAAGCTGCTGGACTCCATGCATGACCTGGTGAGCGACCTGCTGGAA
TTCTGCTTCTACACCTTCCGAGAGTCCCATGCGCTGAAGGTAGAGTTCCCCGCAATGCTG
GTGGAGATCATCAGCGACCAGCTGCCCAAGGTGGAGTCGGGGAACGCCAAGCCGCTCTAC
TTCCACCGGAAGTGA
|
| Enzyme 42 GenBank Gene ID |
M16801  |
| Enzyme 42 GeneCard ID |
NR3C2  |
| Enzyme 42 GenAtlas ID |
NR3C2  |
| Enzyme 42 HGNC ID |
HGNC:7979  |
| Enzyme 42 Chromosome Location |
4 |
| Enzyme 42 Locus |
4q31.1 |
| Enzyme 42 SNPs |
SNPJam Report  |
| Enzyme 42 General References |
- Arriza JL, Weinberger C, Cerelli G, Glaser TM, Handelin BL, Housman DE, Evans RM: Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor. Science. 1987 Jul 17;237(4812):268-75. [PubMed
]
- Zennaro MC, Souque A, Viengchareun S, Poisson E, Lombes M: A new human MR splice variant is a ligand-independent transactivator modulating corticosteroid action. Mol Endocrinol. 2001 Sep;15(9):1586-98. [PubMed
]
- Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, Lifton RP: Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet. 1998 Jul;19(3):279-81. [PubMed
]
- Alnemri ES, Maksymowych AB, Robertson NM, Litwack G: Overexpression and characterization of the human mineralocorticoid receptor. J Biol Chem. 1991 Sep 25;266(27):18072-81. [PubMed
]
- Bloem LJ, Guo C, Pratt JH: Identification of a splice variant of the rat and human mineralocorticoid receptor genes. J Steroid Biochem Mol Biol. 1995 Nov;55(2):159-62. [PubMed
]
- Zennaro MC, Farman N, Bonvalet JP, Lombes M: Tissue-specific expression of alpha and beta messenger ribonucleic acid isoforms of the human mineralocorticoid receptor in normal and pathological states. J Clin Endocrinol Metab. 1997 May;82(5):1345-52. [PubMed
]
- Bruner KL, Derfoul A, Robertson NM, Guerriero G, Fernandes-Alnemri T, Alnemri ES, Litwack G: The unliganded mineralocorticoid receptor is associated with heat shock proteins 70 and 90 and the immunophilin FKBP-52. Recept Signal Transduct. 1997;7(2):85-98. [PubMed
]
- Lupo B, Mesnier D, Auzou G: Cysteines 849 and 942 of human mineralocorticoid receptor are crucial for steroid binding. Biochemistry. 1998 Sep 1;37(35):12153-9. [PubMed
]
- Hellal-Levy C, Fagart J, Souque A, Rafestin-Oblin ME: Mechanistic aspects of mineralocorticoid receptor activation. Kidney Int. 2000 Apr;57(4):1250-5. [PubMed
]
- Hellal-Levy C, Fagart J, Souque A, Wurtz JM, Moras D, Rafestin-Oblin ME: Crucial role of the H11-H12 loop in stabilizing the active conformation of the human mineralocorticoid receptor. Mol Endocrinol. 2000 Aug;14(8):1210-21. [PubMed
]
- Odermatt A, Arnold P, Frey FJ: The intracellular localization of the mineralocorticoid receptor is regulated by 11beta-hydroxysteroid dehydrogenase type 2. J Biol Chem. 2001 Jul 27;276(30):28484-92. Epub 2001 May 11. [PubMed
]
- Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, Chakravarti A: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet. 1999 Jul;22(3):239-47. [PubMed
]
- Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, Suwa S, Katoh S, Fujieda K: A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J Clin Endocrinol Metab. 2000 Dec;85(12):4690-4. [PubMed
]
- Geller DS, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, Meinke G, Tsai FT, Sigler PB, Lifton RP: Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science. 2000 Jul 7;289(5476):119-23. [PubMed
]
- Arai K, Nakagomi Y, Iketani M, Shimura Y, Amemiya S, Ohyama K, Shibasaki T: Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. Hum Genet. 2003 Jan;112(1):91-7. Epub 2002 Oct 25. [PubMed
]
|
| Enzyme 42 Metabolite References |
Not Available |
|
Enzyme 43
[top]
|
| Enzyme 43 ID |
8156 |
| Enzyme 43 Name |
Equilibrative nucleoside transporter 4 |
| Enzyme 43 Synonyms |
- Brain transport protein PMAT
|
| Enzyme 43 Gene Name |
ENT4 |
| Enzyme 43 Protein Sequence |
>Equilibrative nucleoside transporter 4
MGSVGSQRLEEPSVAGTPDPGVVMSFTFDSHQLEEAAEAAQGQGLRARGVPAFTDTTLDE
PVPDDRYHAIYFAMLLAGVGFLLPYNSFITDVDYLHHKYPGTSIVFDMSLTYILVALAAV
LLNNVLVERLTLHTRITAGYLLALGPLLFISICDVWLQLFSRDQAYAINLAAVGTVAFGC
TVQQSSFYGYTGMLPKRYTQGVMTGESTAGVMISLSRILTKLLLPDERASTLIFFLVSVA
LELLCFLLHLLVRRSRFVLFYTTRPRDSHRGRPGLGRGYGYRVHHDVVAGDVHFEHPAPA
LAPNESPKDSPAHEVTGSGGAYMRFDVPRPRVQRSWPTFRALLLHRYVVARVIWADMLSI
AVTYFITLCLFPGLESEIRHCILGEWLPILIMAVFNLSDFVGKILAALPVDWRGTHLLAC
SCLRVVFIPLFILCVYPSGMPALRHPAWPCIFSLLMGISNGYFGSVPMILAAGKVSPKQR
ELAGNTMTVSYMSGLTLGSAVAYCTYSLTRDAHGSCLHASTANGSILAGL
|
| Enzyme 43 Number of Residues |
530 |
| Enzyme 43 Molecular Weight |
58059 |
| Enzyme 43 Theoretical pI |
7.76 |
| Enzyme 43 GO Classification |
| Function |
- nucleobase, nucleoside, nucleotide and nucleic acid transporter activity
- nucleoside transporter activity
- transporter activity
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
|
|
| Enzyme 43 General Function |
Not Available |
| Enzyme 43 Specific Function |
Not Available |
| Enzyme 43 Pathways |
Not Available |
| Enzyme 43 Reactions |
Not Available |
| Enzyme 43 Pfam Domain Function |
|
| Enzyme 43 Signals |
|
| Enzyme 43 Transmembrane Regions |
- 67-89
- 104-126
- 138-160
- 165-187
- 230-252
- 352-374
- 381-400
- 415-437
- 450-472
- 487-509
|
| Enzyme 43 Essentiality |
Not Available |
| Enzyme 43 GenBank ID Protein |
25418480  |
| Enzyme 43 UniProtKB/Swiss-Prot ID |
Q7RTT9  |
| Enzyme 43 UniProtKB/Swiss-Prot Entry Name |
Q7RTT9_HUMAN  |
| Enzyme 43 PDB ID |
Not Available |
| Enzyme 43 Cellular Location |
Not Available |
| Enzyme 43 Gene Sequence |
>1593 bp
ATGGGCTCCGTGGGGAGCCAGCGCCTTGAGGAGCCCAGCGTGGCAGGCACACCAGACCCG
GGCGTAGTGATGAGCTTCACCTTCGACAGTCACCAGCTGGAGGAGGCGGCGGAGGCGGCT
CAGGGCCAGGGCCTTAGGGCCAGGGGCGTCCCAGCTTTCACGGATACTACATTGGACGAG
CCAGTGCCCGATGACCGTTATCACGCCATCTACTTTGCGATGCTGCTGGCTGGCGTGGGC
TTCCTGCTGCCATACAACAGCTTCATCACGGACGTGGACTACCTGCATCACAAGTACCCA
GGGACCTCCATCGTGTTTGACATGAGCCTCACCTACATCTTGGTGGCACTGGCAGCTGTC
CTCCTGAACAACGTCCTGGTGGAGAGACTGACCCTGCACACCAGGATCACCGCAGGCTAC
CTCTTAGCCTTGGGCCCTCTCCTTTTTATCAGCATCTGCGACGTGTGGCTGCAGCTCTTC
TCTCGGGACCAGGCCTACGCCATCAACCTGGCCGCTGTGGGCACCGTGGCCTTCGGCTGC
ACAGTGCAGCAATCCAGCTTCTACGGGTACACGGGGATGCTGCCCAAGCGGTACACGCAG
GGGGTGATGACCGGGGAGAGCACGGCGGGCGTGATGATCTCTCTGAGCCGCATCCTCACG
AAGCTGCTGCTGCCCGACGAGCGCGCCAGCACGCTCATCTTCTTCCTGGTGTCGGTGGCG
CTGGAGCTGCTGTGTTTCCTGCTGCACCTGTTAGTGCGGCGCAGCCGCTTCGTGCTCTTC
TATACCACACGGCCGCGTGACAGCCACCGGGGCAGGCCAGGCCTGGGCAGGGGCTATGGC
TACCGCGTGCACCACGACGTTGTCGCCGGGGACGTCCACTTCGAGCACCCAGCCCCGGCC
CTGGCCCCCAACGAGTCCCCAAAGGACAGCCCAGCCCACGAGGTGACCGGCAGCGGCGGG
GCCTACATGCGCTTTGATGTGCCGCGGCCAAGGGTCCAGCGCAGCTGGCCCACCTTCAGA
GCCCTGTTACTGCACCGCTACGTGGTGGCGCGGGTGATCTGGGCCGACATGCTCTCCATC
GCCGTGACCTACTTCATCACGCTGTGCCTGTTCCCCGGCCTCGAGTCTGAGATCCGCCAC
TGCATCCTGGGCGAGTGGCTGCCCATCCTCATCATGGCTGTGTTCAACCTGTCAGACTTC
GTGGGCAAGATCCTGGCAGCCCTGCCCGTGGACTGGCGGGGCACCCACCTGCTGGCCTGC
TCCTGCCTGCGTGTGGTCTTCATCCCCCTCTTCATCCTGTGCGTCTACCCCAGCGGCATG
CCCGCCCTCCGTCACCCCGCCTGGCCCTGCATCTTCTCACTGCTCATGGGCATCAGCAAC
GGCTACTTCGGCAGCGTGCCCATGATCCTGGCGGCAGGCAAAGTGAGCCCCAAGCAGCGG
GAGCTGGCAGGGAACACCATGACCGTGTCCTACATGTCAGGGCTGACGCTGGGGTCCGCC
GTGGCCTACTGCACCTACAGCCTCACCCGCGACGCTCACGGCAGCTGCCTGCACGCCTCC
ACCGCCAATGGTTCCATCCTCGCAGGCCTCTGA
|
| Enzyme 43 GenBank Gene ID |
BK000627  |
| Enzyme 43 GeneCard ID |
ENT4  |
| Enzyme 43 GenAtlas ID |
ENT4  |
| Enzyme 43 HGNC ID |
HGNC:23097  |
| Enzyme 43 Chromosome Location |
Not Available |
| Enzyme 43 Locus |
Not Available |
| Enzyme 43 SNPs |
SNPJam Report  |
| Enzyme 43 General References |
- Acimovic Y, Coe IR: Molecular evolution of the equilibrative nucleoside transporter family: identification of novel family members in prokaryotes and eukaryotes. Mol Biol Evol. 2002 Dec;19(12):2199-210. [PubMed
]
|
| Enzyme 43 Metabolite References |
Not Available |
|
Enzyme 44
[top]
|
| Enzyme 44 ID |
8198 |
| Enzyme 44 Name |
Sodium- and chloride-dependent betaine transporter |
| Enzyme 44 Synonyms |
- Na(+/Cl(-betaine/GABA transporter
- BGT-1
|
| Enzyme 44 Gene Name |
SLC6A12 |
| Enzyme 44 Protein Sequence |
>Sodium- and chloride-dependent betaine transporter
MDGKVAVQEYGPPAVSWVPEEGEKLDQEDEDQVKDRGQWTNKMEFVLSVAGEIIGLGNVW
RFPYLCYKNGGGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQGSVTAWRKICPLFQGIGL
ASVVIESYLNVYYIIILAWALFYLFSSFTSELPWTTCNNFWNTEHCTDFLNHSGAGTVTP
FENFTSPVMEFWERRVLGITSGIHDLGSLRWELALCLLLAWVICYFCIWKGVKSTGKVVY
FTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPDLFRLKDPQVWMDAGTQIFFSFAICQG
CLTALGSYNKYHNNCYKDCIALCFLNSATSFVAGFVVFSILGFMSQEQGVPISEVAESGP
GLAFIAFPKAVTMMPLSQLWSCLFFIMLIFLGLDSQFVCVECLVTASIDMFPRQLRKSGR
RELLILTIAVMCYLIGLFLVTEGGMYIFQLFDYYASSGICLLFLSLFEVVCISWVYGADR
FYDNIEDMIGYRPWPLVKISWLFLTPGLCLATFLFSLSKYTPLKYNNVYVYPPWGYSIGW
FLALSSMVCVPLFVVITLLKTRGPFRKRLRQLITPDSSLPQPKQHPCLDGSAGRNFGPSP
TREGLIAGEKETHL
|
| Enzyme 44 Number of Residues |
614 |
| Enzyme 44 Molecular Weight |
69429 |
| Enzyme 44 Theoretical pI |
6.25 |
| Enzyme 44 GO Classification |
| Function |
- gamma-aminobutyric acid:sodium symporter activity
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- organic acid transporter activity
- organic acid:sodium symporter activity
- sodium:amino acid symporter activity
- transporter activity
|
| Process |
- cellular physiological process
- neurotransmitter transport
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 44 General Function |
Not Available |
| Enzyme 44 Specific Function |
Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation |
| Enzyme 44 Pathways |
Not Available |
| Enzyme 44 Reactions |
Not Available |
| Enzyme 44 Pfam Domain Function |
|
| Enzyme 44 Signals |
|
| Enzyme 44 Transmembrane Regions |
- 45-65
73-92
117-137
211-229
238-255
291-308
320-341
374-393
423-441
458-478
499-518
538-556
|
| Enzyme 44 Essentiality |
Not Available |
| Enzyme 44 GenBank ID Protein |
881475  |
| Enzyme 44 UniProtKB/Swiss-Prot ID |
P48065  |
| Enzyme 44 UniProtKB/Swiss-Prot Entry Name |
S6A12_HUMAN  |
| Enzyme 44 PDB ID |
Not Available |
| Enzyme 44 Cellular Location |
Not Available |
| Enzyme 44 Gene Sequence |
>1845 bp
ATGGACGGGAAGGTGGCAGTGCAAGAGCGTGGGCCTCCTGCGGTCTCCTGGGTCCCCGAG
GAGGGAGAGAAGTTGGACCAGGAAGACGAGGACCAGGTGAAGGATCGGGGCCAATGGACC
AACAAGATGGAGTTTGTGCTGTCAGTGGCCGGGGAGATCATTGGGCTGGGCAATGTCTGG
AGGTTTCCCTATCTCTGCTACAAAAACGGAGGTGGAGCCTTCTTCATCCCCTACTTCATC
TTCTTCTTTGTCTGCGGCATCCCGGTGTTCTTCCTGGAGGTGGCGTTGGGCCAATACACC
AGCCAAGGGAGTGTCACAGCCTGGAGGAAGATCTGCCCCCTCTTCCAGGGCATTGGTCTG
GCATCTGTGGTCATCGAGTCATATTTGAATGTCTACTACATCATCATCCTTGCCTGGGCT
CTCTTCTACCTGTTCAGCTCCTTCACTTCTGAGCTGCCCTGGACGACCTGCAACAACTTT
TGGAACACAGAGCATTGCACGGACTTTCTGAACCACTCAGGAGCCGGCACAGTGACCCCA
TTTGAGAATTTTACCTCACCTGTCATGGAATTCTGGGAGAGACGAGTTCTGGGCATCACC
TCGGGCATCCATGACCTGGGCTCCCTGCGCTGGGAGCTGGCCCTGTGCCTCCTGCTCGCC
TGGGTCATCTGCTATTTCTGCATCTGGAAGGGGGTCAAGTCCACAGGCAAGGTGGTTTAT
TTCACAGCCACGTTTCCGTACCTGATGCTTGTCATTTTGCTGATCAGAGGTGTCACCCTT
CCCGGAGCCTACCAGGGCATCATCTACTACTTGAAGCCAGATTTGTTCCGCCTCAAGGAC
CCTCAGGTGTGGATGGATGCGGGCACCCAGATCTTCTTCTCCTTTGCCATCTGCCAGGGG
TGCCTGACAGCCCTGGGCAGCTACAACAAGTATCACAACAACTGCTACAAGGACTGCATC
GCCCTCTGCTTCCTGAACAGTGCCACCAGCTTTGTGGCTGGGTTTGTTGTCTTCTCCATC
CTGGGCTTCATGTCCCAAGAGCAAGGGGTGCCCATTTCTGAAGTGGCCGAGTCAGGTCCT
GGGCTGGCCTTCATCGCCTTCCCCAAGGCTGTGACTATGATGCCCTTATCCCAGCTGTGG
TCCTGCCTGTTCTTTATCATGCTCATATTCCTAGGGCTGGACAGCCAGTTTGTCTGTGTG
GAGTGCCTGGTGACAGCCTCCATAGACATGTTCCCCAGGCAGCTCCGGAAGAGCGGGCGG
CGCGAGCTCCTCATCCTCACCATCGCCGTCATGTGCTACCTGATAGGGCTTTTCCTGGTC
ACCGAGGGCGGGATGTACATCTTCCAGCTGTTTGACTACTATGCTTCCAGTGGCATATGC
CTGCTGTTCCTGTCATTGTTTGAAGTGGTCTGCATAAGCTGGGTGTATGGGGCGGACCGT
TTCTATGACAACATTGAGGACATGATTGGCTACCGGCCATGGCCCCTGGTGAAGATCTCC
TGGCTCTTCCTGACCCCTGGACTTTGCCTGGCCACTTTCCTCTTCTCCTTGAGCAAGTAC
ACCCCCCTCAAGTACAACAACGTCTATGTGTACCCGCCCTGGGGATACTCCATTGGCTGG
TTCCTGGCTCTGTCCTCCATGGTCTGTGTCCCACTCTTCGTCGTCATCACCCTCCTGAAG
ACTCGGGGTCCTTTCAGGAAGCGTCTGCGTCACGTCATCACCCCTGACTCCAGTCTGCCA
CAGCCCAAGCAACATCCCTGCTTGGATGGCAGTGCTGGCCGGAACTTTGGGCCCTCCCCA
ACAAGGGAAGGACTGATAGCCGGGGAGAAGGAGACCCATTTGTAG
|
| Enzyme 44 GenBank Gene ID |
U27699  |
| Enzyme 44 GeneCard ID |
SLC6A12  |
| Enzyme 44 GenAtlas ID |
SLC6A12  |
| Enzyme 44 HGNC ID |
HGNC:11045  |
| Enzyme 44 Chromosome Location |
12 |
| Enzyme 44 Locus |
12p13 |
| Enzyme 44 SNPs |
SNPJam Report  |
| Enzyme 44 General References |
- Rasola A, Galietta LJ, Barone V, Romeo G, Bagnasco S: Molecular cloning and functional characterization of a GABA/betaine transporter from human kidney. FEBS Lett. 1995 Oct 16;373(3):229-33. [PubMed
]
- Borden LA, Smith KE, Gustafson EL, Branchek TA, Weinshank RL: Cloning and expression of a betaine/GABA transporter from human brain. J Neurochem. 1995 Mar;64(3):977-84. [PubMed
]
|
| Enzyme 44 Metabolite References |
Not Available |
|
Enzyme 45
[top]
|
| Enzyme 45 ID |
8262 |
| Enzyme 45 Name |
Sodium/myo-inositol cotransporter |
| Enzyme 45 Synonyms |
- Na(+/myo-inositol cotransporter
|
| Enzyme 45 Gene Name |
SLC5A3 |
| Enzyme 45 Protein Sequence |
>Sodium/myo-inositol cotransporter
MRAVLDTADIAIVALYFILVMCIGFFAMWKSNRSTVSGYFLAGRSMTWVTIGASLFVSNI
GSEHFIGLAGSGAASGFAVGAWEFNALLLLQLLGWVFIPIYIRSGVYTMPEYLSKRFGGH
RIQVYFAALSLILYIFTKLSVDLYSGALFIQESLGWNLYVSVILLIGMTALLTVTGGLVA
VIYTDTLQALLMIIGALTLMIISIMEIGGFEEVKRRYMLASPDVTSILLTYNLSNTNSCN
VSPKKEALKMLRNPTDEDVPWPGFILGQTPASVWYWCADQVIVQRVLAAKNIAHAKGSTL
MAGFLKLLPMFIIVVPGMISRILFTDDIACINPEHCMLVCGSRAGCSNIAYPRLVMKLVP
VGLRGLMMAVMIAALMSDLDSIFNSASTIFTLDVYKLIRKSASSRELMIVGRIFVAFMVV
ISIAWVPIIVEMQGGQMYLYIQEVADYLTPPVAALFLLAIFWKRCNEQGAFYGGMAGFVL
GAVRLILAFAYRAPECDQPDNRPGFIKDIHYMYVATGLFWVTGLITVIVSLLTPPPTKEQ
IRTTTFWSKKNLVVKENCSPKEEPYQMQEKSILRCSENNETINHIIPNGKSEDSIKGLQP
EDVNLLVTCREEGNPVASLGHSEAETPVDAYSNGQAALMGEKERKKETDDGGRYWKFIDW
FCGFKSKSLSKRSLRDLMEEEAVCLQMLEETRQVKVILNIGLFAVCSLGIFMFVYFSL
|
| Enzyme 45 Number of Residues |
718 |
| Enzyme 45 Molecular Weight |
79695 |
| Enzyme 45 Theoretical pI |
7.30 |
| Enzyme 45 GO Classification |
| Function |
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
|
|
| Enzyme 45 General Function |
Not Available |
| Enzyme 45 Specific Function |
Prevents intracellular accumulation of high concentrations of myo-inositol (an osmolyte) that result in impairment of cellular function |
| Enzyme 45 Pathways |
Not Available |
| Enzyme 45 Reactions |
Not Available |
| Enzyme 45 Pfam Domain Function |
|
| Enzyme 45 Signals |
|
| Enzyme 45 Transmembrane Regions |
Not Available |
| Enzyme 45 Essentiality |
Not Available |
| Enzyme 45 GenBank ID Protein |
46253612  |
| Enzyme 45 UniProtKB/Swiss-Prot ID |
P53794  |
| Enzyme 45 UniProtKB/Swiss-Prot Entry Name |
SC5A3_HUMAN  |
| Enzyme 45 PDB ID |
Not Available |
| Enzyme 45 Cellular Location |
Not Available |
| Enzyme 45 Gene Sequence |
>2157 bp
ATGAGAGCTGTACTGGACACAGCAGACATTGCCATAGTGGCCCTGTATTTTATCCTGGTC
ATGTGCATTGGTTTTTTTGCCATGTGGAAATGTAATAGAAGCACCGTGAGTGGATACTTC
CTGGCGGGGCGCTCTATGACCTGGGTAGCAATTGGTGCCTCTCTGTTTGTGAGCAATATT
GGGAGTGAGCACTTCATTGGGCTGGCAGGATCTGGAGCTGCAAGTGGATTTGCAGTGGGC
GCATGGGAATTCAATGCCTTACTGCTTTTACAACTTCTGGGATGGGTTTTCATCCCAATT
TACATCCGGTCAGGGGTATATACCATGCCTGAATACTTGTCCAAGCGATTTGGTGGCCAT
AGGATTCAGGTCTATTTTGCAGCCTTGTCTCTGATTCTCTATATTTTCACCAAGCTCTCG
GTGGATCTGTATTCGGGTGCCCTTTTTATCCAGGAGTCTTTGGGTTGGAATCTTTATGTG
TCTGTCATCCTGCTCATTGGCATGACTGCTTTGCTGACTGTCACCGGAGGCCTTGTTGCA
GTGATCTACACAGACACTCTGCAGGCTCTGCTCATGATCATTGGGGCACTTACACTTATG
ATTATTAGCATAATGGAGATTGGCGGGTTTGAGGAAGTTAAGAGAAGGTACATGTTGGCC
TCACCCGATGTCACTTCCATCTTATTGACATACAACCTTTCCAACACAAATTCTTGTAAT
GTCTCCCCTAAGAAAGAAGCCCTGAAAATGCTGCGGAATCCAACAGATGAAGATGTTCCT
TGGCCTGGATTCATTCTTGGGCAGACCCCAGCTTCAGTATGGTACTGGTGTGCTGACCAA
GTCATCGTGCAGAGGGTCCTTGCAGCCAAAAACATTGCTCATGCCAAAGGCTCTACTCTT
ATGGCTGGCTTCTTAAAGCTCCTGCCAATGTTTATCATAGTTGTCCCAGGAATGATTTCC
AGGATACTGTTTACTGATGATATAGCTTGCATCAACCCAGAGCACTGCATGCTGGTGTGT
GGAAGCAGAGCTGGTTGCTCCAATATTGCTTACCCACGCCTGGTGATGAAGCTGGTTCCT
GTGGGCCTTCGGGGTTTAATGATGGCAGTGATGATTGCAGCTCTGATGAGTGACTTAGAC
TCTATCTTTAACAGTGCCAGTACCATATTCACCCTCGATGTGTACAAACTTATCCGCAAG
AGCGCAAGCTCCCGGGAGTTAATGATTGTGGGGAGGATATTTGTGGCATTTATGGTGGTG
ATCAGCATAGCATGGGTGCCAATCATCGTGGAGATGCAAGGAGGCCAGATGTACCTTTAC
ATTCAGGAGGTAGCAGATTACCTGACACCCCCAGTGGCAGCCTTGTTCCTGCTGGCAATT
TTCTGGAAGCGCTGCAATGAACAAGGGGCTTTCTATGGTGGAATGGCTGGCTTTGTTCTT
GGAGCAGTCCGTTTGATACTGGCCTTTGCCTACCGTGCCCCAGAATGTGACCAACCTGAT
AATAGGCCGGGCTTCATCAAAGACATCCATTATATGTATGTGGCCACAGGATTGTTTTGG
GTCACGGGACTCATTACTGTAATTGTGAGCCTTCTCACACCACCTCCCACAAAGGAACAG
ATTCGAACCACCACCTTTTGGTCTAAGAAGAACCTGGTGGTGAAGGAGAACTGCTCCCCA
AAAGAGGAACCATACAAAATGCAAGAAAAGAGCATTCTGAGATGCAGTGAGAATAATGAG
ACCATCAACCACATCATTCCCAACGGGAAATCTGAAGACAGCATTAAGGGCCTTCAGCCT
GAAGATGTTAATCTGTTGGTAACCTGCAGAGAGGAGGGCAACCCAGTGGCATCCTTAGGT
CATTCAGAGGCAGAAACACCAGTTGACGCTTACTCCAATGGGCAAGCAGCTCTCATGGGT
GAGAAAGAGAGAAAGAAAGAAACGGATGATGGAGGTCGGTACTGGAAGTTCATAGACTGG
TTTTGTGGCTTTAAAAGTAAGAGCCTCAGCAAGAGGAGTCTCAGAGACCTGATGGAAGAG
GAGGCTGTTTGTTTACAGATGCTAGAAGAGACTCGGCAAGTTAAAGTAATACTAAATATT
GGACTTTTTGCTGTGTGTTCACTTGGAATTTTCATGTTTGTTTATTTCTCCTTATGA
|
| Enzyme 45 GenBank Gene ID |
L38500  |
| Enzyme 45 GeneCard ID |
SLC5A3  |
| Enzyme 45 GenAtlas ID |
SLC5A3  |
| Enzyme 45 HGNC ID |
HGNC:11038  |
| Enzyme 45 Chromosome Location |
Not Available |
| Enzyme 45 Locus |
Not Available |
| Enzyme 45 SNPs |
SNPJam Report  |
| Enzyme 45 General References |
- Berry GT, Mallee JJ, Kwon HM, Rim JS, Mulla WR, Muenke M, Spinner NB: The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21. Genomics. 1995 Jan 20;25(2):507-13. [PubMed
]
- Mallee JJ, Atta MG, Lorica V, Rim JS, Kwon HM, Lucente AD, Wang Y, Berry GT: The structural organization of the human Na+/myo-inositol cotransporter (SLC5A3) gene and characterization of the promoter. Genomics. 1997 Dec 15;46(3):459-65. [PubMed
]
- Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML: The DNA sequence of human chromosome 21. Nature. 2000 May 18;405(6784):311-9. [PubMed
]
|
| Enzyme 45 Metabolite References |
Not Available |
|
Enzyme 46
[top]
|
| Enzyme 46 ID |
8303 |
| Enzyme 46 Name |
Sialin |
| Enzyme 46 Synonyms |
- Solute carrier family 17 member 5
- Sodium/sialic acid cotransporter
- AST
- Membrane glycoprotein HP59
|
| Enzyme 46 Gene Name |
SLC17A5 |
| Enzyme 46 Protein Sequence |
>Sialin
MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNL
SVALVDMVDSNTTLEDNRTSKACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYI
ITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLGVGPLIVLRALEGLGEGVTFP
AMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFS
YNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFST
LCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPS
YAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKG
EVQNWALNDHHGHRH
|
| Enzyme 46 Number of Residues |
495 |
| Enzyme 46 Molecular Weight |
54640 |
| Enzyme 46 Theoretical pI |
8.36 |
| Enzyme 46 GO Classification |
| Function |
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 46 General Function |
Carbohydrate transport and metabolism |
| Enzyme 46 Specific Function |
Primary solute translocator for anionic substances; particularly it is a free sialic acid transporter in the lysosomes (Probable) |
| Enzyme 46 Pathways |
Not Available |
| Enzyme 46 Reactions |
Not Available |
| Enzyme 46 Pfam Domain Function |
|
| Enzyme 46 Signals |
|
| Enzyme 46 Transmembrane Regions |
- 42-62
110-130
137-157
159-179
201-221
228-248
280-300
329-349
366-386
392-412
424-444
458-478
|
| Enzyme 46 Essentiality |
Not Available |
| Enzyme 46 GenBank ID Protein |
9719374  |
| Enzyme 46 UniProtKB/Swiss-Prot ID |
Q9NRA2  |
| Enzyme 46 UniProtKB/Swiss-Prot Entry Name |
S17A5_HUMAN  |
| Enzyme 46 PDB ID |
Not Available |
| Enzyme 46 Cellular Location |
Not Available |
| Enzyme 46 Gene Sequence |
>1611 bp
ATGGCGGCGGGGGCGATGACACCGCCCCGCCCGGTCCAGCCAGCTCGGCCCGGGGGCTTC
GGGCTGTCGGGCCGGCGCTCCCTTCTCTGCCAGGTGGCGAGTACACCTGCTCACGTAGGC
GTCATGAGGTCTCCGGTTCGAGACCTGGCCCGGAACGATGGCGAGGAGAGCACGGACCGC
ACGCCTCTTCTACCGGGCGCCCCACGGGCCGAAGCCGCTCCAGTGTGCTGCTCTGCTCGT
TACAACTTAGCAATTTTGGCCTTTTTTGGTTTCTTCATTGTGTATGCATTACGTGTGAAT
CTGAGTGTTGCGTTAGTGGATATGGTAGATTCAAATACAACTTTAGAAGATAATAGAACT
TCCAAGGCGTGTCCAGAGCATTCTGCTCCCATAAAAGTTCATCATAATCAAACGGGTAAG
AAGTACCAATGGGATGCAGAAACTCAAGGATGGATTCTCGGTTCCTTTTTTTATGGCTAC
ATCATCACACAGATTCCTGGAGGATATGTTGCCAGCAAAATAGGGGGGAAAATGCTGCTA
GGATTTGGGATCCTTGGCACTGCTGTCCTCACCCTGTTCACTCCCATTGCTGCAGATTTA
GGAGTTGGACCACTCATTGTACTCAGAGCACTAGAAGGACTAGGAGAGGGTGTTACATTT
CCAGCCATGCATGCCATGTGGTCTTCTTGGGCTCCCCCTCTTGAAAGAAGCAAACTTCTT
AGCATTTCGTATGCAGGAGCACAGCTTGGGACAGTAATTTCTCTTCCTCTTTCTGGAATA
ATTTGCTACTATATGAATTGGACTTATGTCTTCTACTTTTTTGGTACTATTGGAATATTT
TGGTTTCTTTTGTGGATCTGGTTAGTTAGTGACACACCACAAAAACACAAGAGAATTTCC
CATTATGAAAAGGAATACATTCTTTCATCATTAAGAAATCAGCTTTCTTCACAGAAGTCA
GTGCCGTGGGTACCCATTTTAAAATCCCTGCCACTTTGGGCTATCGTAGTTGCACACTTT
TCTTACAACTGGACTTTTTATACTTTATTGACATTATTGCCTACTTATATGAAGGAGATC
CTAAGGTTCAATGTTCAAGAGAATGGGTTTTTATCTTCATTGCCTTATTTAGGCTCTTGG
TTATGTATGATCCTGTCTGGTCAAGCTGCTGACAATTTAAGGGCAAAATGGAATTTTTCA
ACTTTATGTGTTCGCAGAATTTTTAGCCTTATAGGAATGATTGGACCTGCAGTATTCCTG
GTAGCTGCTGGCTTCATTGGCTGTGATTATTCTTTGGCCGTTGCTTTCCTAACTATATCA
ACAACACTGGGAGGCTTTTGCTCTTCTGGATTTAGCATCAACCATCTGGATATTGCTCCT
TCGTATGCTGGTATCCTCCTGGGCATCACAAATACATTTGCCACTATTCCAGGAATGGTT
GGGCCCGTCATTGCTAAAAGTCTGACCCCTGATAACACTGTTGGAGAATGGCAAACCGTG
TTCTATATTGCTGCTGCTATTAATGTTTTTGGTGCCATTTTCTTTACACTATTCGCCAAA
GGTGAAGTACAAAACTGGGCTCTCAATGATCACCATGGACACAGACACTGA
|
| Enzyme 46 GenBank Gene ID |
AF244577  |
| Enzyme 46 GeneCard ID |
SLC17A5  |
| Enzyme 46 GenAtlas ID |
SLC17A5  |
| Enzyme 46 HGNC ID |
HGNC:10933  |
| Enzyme 46 Chromosome Location |
6 |
| Enzyme 46 Locus |
6q14-q15 |
| Enzyme 46 SNPs |
SNPJam Report  |
| Enzyme 46 General References |
- Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM: A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet. 1999 Dec;23(4):462-5. [PubMed
]
- Martin RA, Slaugh R, Natowicz M, Pearlman K, Orvisky E, Krasnewich D, Kleta R, Huizing M, Gahl WA: Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. Am J Med Genet A. 2003 Jul 1;120(1):23-7. [PubMed
]
|
| Enzyme 46 Metabolite References |
Not Available |
|
Enzyme 47
[top]
|
| Enzyme 47 ID |
8317 |
| Enzyme 47 Name |
Solute carrier family 22 |
| Enzyme 47 Synonyms |
- Organic cation transporter, member 16
|
| Enzyme 47 Gene Name |
SLC22A16 |
| Enzyme 47 Protein Sequence |
>Solute carrier family 22
MGSRHFEGIYDHVGHFGRFQRVLYFICAFQNISCGIHYLASVFMGVTPHHVCRPPGNVSQ
VVFHNHSNWSLEDTGALLSSGQKDYVTVQLQNGEIWELSRCSRNKRENTSSLGYEYTGSK
KEFPCVDGYIYDQNTWKSTAVTQWNLVCDRKWLAMLIQPLFMFGVLLGSVTFGYFSDRLG
RRVVLWATSSSMFLFGIAAAFAVDYYTFMAARFFLAMVASGYLVVGFVYVMEFIGMKSRT
WASVHLHSFFAVGTLLVALTGYLVRTWWLYQMILSTVTVPFILCCWVLPETPFWLLSEGR
YEEAQKIVDIMAKWNRASSCKLSELLSLDLQGPVSNSPTEVQKHNLSYLFYNWSITKRTL
TVWLIWFTGSLGFYSFSLNSVNLGGNEYLNLFLLGVVEIPAYTFVCIAMDKVGRRTVLAY
SLFCSALACGVVMVIPQKHYILGVVTAMVGKFAIGAAFGLIYLYTAELYPTIVRSLAVGS
GSMVCRLASILAPFSVDLSSIWIFIPQLFVGTMALLSGVLTLKLPETLGKRLATTWEEAA
KLESENESKSSKLLLTTNNSGLEKTEAITPRDSGLGE
|
| Enzyme 47 Number of Residues |
577 |
| Enzyme 47 Molecular Weight |
64615 |
| Enzyme 47 Theoretical pI |
8.23 |
| Enzyme 47 GO Classification |
| Function |
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 47 General Function |
Carbohydrate transport and metabolism |
| Enzyme 47 Specific Function |
Not Available |
| Enzyme 47 Pathways |
Not Available |
| Enzyme 47 Reactions |
Not Available |
| Enzyme 47 Pfam Domain Function |
|
| Enzyme 47 Signals |
|
| Enzyme 47 Transmembrane Regions |
- 154-176
- 183-203
- 213-235
- 242-264
- 274-296
- 359-378
- 388-410
- 417-436
- 441-463
- 468-490
- 500-522
|
| Enzyme 47 Essentiality |
Not Available |
| Enzyme 47 GenBank ID Protein |
28837286  |
| Enzyme 47 UniProtKB/Swiss-Prot ID |
Q86VW1  |
| Enzyme 47 UniProtKB/Swiss-Prot Entry Name |
Q86VW1_HUMAN  |
| Enzyme 47 PDB ID |
Not Available |
| Enzyme 47 Cellular Location |
Not Available |
| Enzyme 47 Gene Sequence |
>1734 bp
ATGGGGTCCCGCCACTTCGAGGGGATTTATGACCACGTGGGGCACTTCGGCAGATTCCAG
AGAGTCCTCTATTTCATATGTGCCTTCCAGAACATCTCTTGTGGTATTCACTACTTGGCT
TCTGTGTTCATGGGAGTCACCCCTCATCATGTCTGCAGGCCCCCAGGCAATGTGAGTCAG
GTTGTTTTCCATAATCACTCTAATTGGAGTTTGGAGGACACCGGGGCCCTGTTGTCTTCA
GGCCAGAAAGATTATGTTACGGTGCAGTTGCAGAATGGTGAGATCTGGGAGCTCTCAAGG
TGTAGCAGGAATAAGAGGGAGAACACATCGAGTTTGGGCTATGAATACACTGGCAGTAAG
AAAGAGTTTCCTTGTGTGGATGGCTACATATATGACCAGAACACATGGAAAAGCACTGCG
GTGACCCAGTGGAACCTGGTCTGTGACCGAAAATGGCTTGCAATGCTGATCCAGCCCCTA
TTTATGTTTGGAGTCCTACTGGGATCGGTGACTTTTGGCTACTTTTCTGACAGGCTAGGA
CGCCGGGTGGTCTTGTGGGCCACAAGCAGTAGCATGTTTTTGTTTGGAATAGCAGCGGCG
TTTGCAGTTGATTATTACACCTTCATGGCTGCTCGCTTTTTTCTTGCCATGGTTGCAAGT
GGCTATCTTGTGGTGGGGTTTGTCTATGTGATGGAATTCATTGGCATGAAGTCTCGGACA
TGGGCGTCTGTCCATTTGCATTCCTTTTTTGCAGTTGGAACCCTGCTGGTGGCTTTGACA
GGATACTTGGTCAGGACCTGGTGGCTTTACCAGATGATCCTCTCCACAGTGACTGTCCCC
TTTATCCTGTGCTGTTGGGTGCTCCCAGAGACACCTTTTTGGCTTCTCTCAGAGGGACGA
TATGAAGAAGCACAAAAAATAGTTGACATCATGGCCAAGTGGAACAGGGCAAGCTCCTGT
AAACTGTCAGAACTTTTATCACTGGACCTACAAGGTCCTGTTAGTAATAGCCCCACTGAA
GTTCAGAAGCACAACCTATCATATCTGTTTTATAACTGGAGCATTACGAAAAGGACACTT
ACCGTTTGGCTAATCTGGTTCACTGGAAGTTTGGGATTCTACTCGTTTTCCTTGAATTCT
GTTAACTTAGGAGGCAATGAATACTTAAACCTCTTCCTCCTGGGTGTAGTGGAAATTCCC
GCCTACACCTTCGTGTGCATCGCCATGGACAAGGTCGGGAGGAGAACAGTCCTGGCCTAC
TCTCTTTTCTGCAGTGCACTGGCCTGTGGTGTCGTTATGGTGATCCCCCAGAAACATTAT
ATTTTGGGTGTGGTGACAGCTATGGTTGGAAAATTTGCCATCGGGGCAGCATTTGGCCTC
ATTTATCTTTATACAGCTGAGCTGTATCCAACCATTGTAAGATCGCTGGCTGTGGGAAGC
GGCAGCATGGTGTGTCGCCTGGCCAGCATCCTGGCGCCGTTCTCTGTGGACCTCAGCAGC
ATTTGGATCTTCATACCACAGTTGTTTGTTGGGACTATGGCCCTCCTGAGTGGAGTGTTA
ACACTAAAGCTTCCAGAAACCCTTGGGAAACGGCTAGCAACTACTTGGGAGGAGGCTGCA
AAACTGGAGTCAGAGAATGAAAGCAAGTCAAGCAAATTACTTCTCACAACTAATAATAGT
GGGCTGGAAAAAACGGAAGCGATTACCCCCAGGGATTCTGGTCTTGGTGAATAA
|
| Enzyme 47 GenBank Gene ID |
BC047565  |
| Enzyme 47 GeneCard ID |
SLC22A16  |
| Enzyme 47 GenAtlas ID |
SLC22A16  |
| Enzyme 47 HGNC ID |
HGNC:20302  |
| Enzyme 47 Chromosome Location |
6 |
| Enzyme 47 Locus |
6q22.1|6q21-q22.1 |
| Enzyme 47 SNPs |
SNPJam Report  |
| Enzyme 47 General References |
- Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA: Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. [PubMed
]
|
| Enzyme 47 Metabolite References |
Not Available |
|
Enzyme 48
[top]
|
| Enzyme 48 ID |
8319 |
| Enzyme 48 Name |
Sodium- and chloride-dependent GABA transporter 1 |
| Enzyme 48 Synonyms |
Not Available |
| Enzyme 48 Gene Name |
SLC6A1 |
| Enzyme 48 Protein Sequence |
>Sodium- and chloride-dependent GABA transporter 1
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGY
AIGLGNVWRFPYLCGKNGGGAFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAP
MFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQCDNPWNTDRCFSNYSMV
NTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV
YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGL
GSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASG
PGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCTVEGFITALVDEYPRLLRNRR
ELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF
YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLM
ALSSMVLIPGYMAYMFLALKGSLKQRIQVMVQPSEDTVRPENGPEHAQAGSSTSKEAYI
|
| Enzyme 48 Number of Residues |
599 |
| Enzyme 48 Molecular Weight |
67015 |
| Enzyme 48 Theoretical pI |
8.16 |
| Enzyme 48 GO Classification |
| Function |
- gamma-aminobutyric acid:sodium symporter activity
- neurotransmitter transporter activity
- neurotransmitter:sodium symporter activity
- organic acid transporter activity
- organic acid:sodium symporter activity
- sodium:amino acid symporter activity
- transporter activity
|
| Process |
- cellular physiological process
- neurotransmitter transport
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- integral to plasma membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 48 General Function |
Not Available |
| Enzyme 48 Specific Function |
Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals |
| Enzyme 48 Pathways |
Not Available |
| Enzyme 48 Reactions |
Not Available |
| Enzyme 48 Pfam Domain Function |
|
| Enzyme 48 Signals |
|
| Enzyme 48 Transmembrane Regions |
- 53-73
81-100
124-144
212-230
239-256
292-309
321-342
375-394
422-440
457-477
498-517
536-554
|
| Enzyme 48 Essentiality |
Not Available |
| Enzyme 48 GenBank ID Protein |
31658  |
| Enzyme 48 UniProtKB/Swiss-Prot ID |
P30531  |
| Enzyme 48 UniProtKB/Swiss-Prot Entry Name |
SC6A1_HUMAN  |
| Enzyme 48 PDB ID |
Not Available |
| Enzyme 48 Cellular Location |
Not Available |
| Enzyme 48 Gene Sequence |
>1800 bp
ATGGCGACCAACGGCAGCAAGGTGGCCGACGGGCAGATCTCCACCGAGGTCAGCGAGGCC
CCTGTGGCCAATGACAAGCCCAAAACCTTGGTGGTCAAGGTGCAGAAGAAGGCGGCAGAC
CTCCCCGACCGGGACACGTGGAAGGGCCGCTTCGACTTCCTCATGTCCTGTGTGGGCTAT
GCCATCGGCCTGGGCAACGTCTGGAGGTTCCCCTATCTCTGCGGGAAAAATGGTGGGGGA
GCCTTCCTGATCCCCTATTTCCTGACACTCATCTTTGCGGGGGTCCCACTCTTCCTGCTG
GAGTGCTCCCTGGGCCAGTACACCTCCATCGGGGGGCTAGGGGTATGGAAGCTGGCTCCT
ATGTTCAAGGGCGTGGGCCTTGCGGCTGCTGTGCTATCATTCTGGCTGAACATCTACTAC
ATCGTCATCATCTCCTGGGCCATTTACTACCTGTACAACTCCTTCACCACGACACTGCCG
TGGAAACAGTGCGACAACCCCTGGAACACAGACCGCTGCTTCTCCAACTACAGCATGGTC
AACACTACCAACATGACCAGCGCTGTGGTGGAGTTCTGGGAGCGCAACATGCATCAGATG
ACGGACGGGCTGGATAAGCCAGGTCAGATCCGCTGGCCACTGGCCATCACGCTGGCCATC
GCCTGGATCCTTGTGTATTTCTGTATCTGGAAGGGTGTTGGCTGGACTGGAAAGGTGGTC
TACTTTTCAGCCACATACCCCTACATCATGCTGATCATCCTGTTCTTCCGTGGAGTGACG
CTGCCCGGGGCCAAGGAGGGCATCCTCTTCTACATCACACCCAACTTCCGCAAGCTGTCT
GACTCCGAGGTGTGGCTGGATGCGGCAACCCAGATCTTCTTCTCATACGGGCTGGGCCTG
GGGTCCCTGATCGCTCTCGGGAGCTACAACTCTTTCCACAACAATGTCTACAGGGACTCC
ATCATCGTCTGCTGCATCAATTCGTGCACCAGCATGTTCGCAGGATTCGTCATCTTCTCC
ATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGCCGCCTCAGGC
CCCGGGCTGGCGTTCCTGGCATACCCAGAGGCGGTGACCCAGCTGCCTATCTCCCCACTC
TGGGCCATCCTCTTCTTCTCCATGCTGTTGATGCTGGGCATTGACAGCCAGTTCTGCACT
GTGGAGGGCTTCATCACAGCCCTGGTGGATGAGTACCCCAGGCTCCTCCGCAACCGCAGA
GAGCTCTTCATTGCTGCTGTCTGCATCATCTCCTACCTGATCGGTCTCTCTAACATCACT
CAGGGGGGTATTTATGTCTTCAAACTCTTTGACTACTACTCTGCCAGTGGCATGAGCCTG
CTGTTCCTCGTGTTCTTTGAATGTGTCTCTATTTCCTGGTTTTACGGTGTCAACCGATTC
TATGACAATATCCAAGAGATGGTTGGATCCAGGCCCTGCATCTGGTGGAAACTCTGCTGG
TCTTTCTTCACACCAATCATTGTGGCGGGCGTGTTCATTTTCAGTGCTGTGCAGATGACG
CCACTCACCATGGGAAACTATGTTTTCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGATG
GCTCTGTCTTCCATGGTCCTCATCCCCGGGTACATGGCCTACATGTTCCTCGCCCTAAAG
GGCTCCCTGAAGCAGCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACACTGTTCGCCCA
GAGAATGGTCCTGAGCACGCCCAGGCGGGCAGCTCCACCAGCAAGGAGGCCTACATCTAG
|
| Enzyme 48 GenBank Gene ID |
X54673  |
| Enzyme 48 GeneCard ID |
SLC6A1  |
| Enzyme 48 GenAtlas ID |
SLC6A1  |
| Enzyme 48 HGNC ID |
HGNC:11042  |
| Enzyme 48 Chromosome Location |
3 |
| Enzyme 48 Locus |
3p25-p24 |
| Enzyme 48 SNPs |
SNPJam Report  |
| Enzyme 48 General References |
- Nelson H, Mandiyan S, Nelson N: Cloning of the human brain GABA transporter. FEBS Lett. 1990 Aug 20;269(1):181-4. [PubMed
]
|
| Enzyme 48 Metabolite References |
Not Available |
|
Enzyme 49
[top]
|
| Enzyme 49 ID |
8324 |
| Enzyme 49 Name |
Sodium/hydrogen exchanger 3 |
| Enzyme 49 Synonyms |
- Na(+/H(+exchanger 3
- NHE-3
- Solute carrier family 9 member 3
|
| Enzyme 49 Gene Name |
SLC9A3 |
| Enzyme 49 Protein Sequence |
>Sodium/hydrogen exchanger 3
MWGLGARGPDRGLLLALALGGLARAGGVEVEPGGAHGESGGFQVVTFEWAHVQDPYVIAL
WILVASLAKIGFHLSHKVTSVVPESALLIVLGLVLGGIVWAADHIASFTLTPTVFFFYLL
PPIVLDAGYFMPNRLFFGNLGTILLYAVVGTVWNAATTGLSLYGVFLSGLMGDLQIGLLD
FLLFGSLMAAVDPVAVLAVFEEVHVNEVLFIIVFGESLLNDAVTVVLYNVFESFVALGGD
NVTGVDCVKGIVSFFVVSLGGTLVGVVFAFLLSLVTRFTKHVRIIEPGFVFIISYLSYLT
SEMLSLSAILAITFCGICCQKYVKANISEQSATTVRYTMKMLASSAETIIFMFLGISAVN
PFIWTWNTAFVLLTLVFISVYRAIGVVLQTWLLNRYRMVQLEPIDQVVLSYGGLRGAVAF
ALVVLLDGDKVKEKNLFVSTTIIVVFFTVIFQGLTIKPLVQWLKVKRSEHREPRLNEKLH
GRAFDHILSAIEDISGQIGHNYLRDKWSHFDRKFLSRVLMRRSAQKSRDRILNVFHELNL
KDAISYVAEGERRGSLAFIRSPSTDNVVNVDFTPRSSTVEASVSYLLRENVSAVCLDMQS
LEQRRRSIRDAEDMVTHHTLQQYLYKPRQEYKHLYSRHELTPTEDEKQDREIFHRTMRKR
LESFKSTKLGLNQNKKAAKLYKRERAQKRRNSSIPNGKLPMESPAQNFTIKEKDLELSDT
EEPPNYDEEMSGGIEFLASVTKDTASDSPAGIDNPVFSPDEALDRSLLARLPPWLSPGET
VVPSQRARTQIPYSPGTFRRLMPFRLSSKSVDSFLQADGPEERPPAALPESTHM
|
| Enzyme 49 Number of Residues |
834 |
| Enzyme 49 Molecular Weight |
92909 |
| Enzyme 49 Theoretical pI |
7.75 |
| Enzyme 49 GO Classification |
| Function |
- cation transporter activity
- hydrogen ion transporter activity
- ion transporter activity
- monovalent cation:proton antiporter activity
- monovalent inorganic cation transporter activity
- sodium:hydrogen antiporter activity
- solute:cation antiporter activity
- solute:hydrogen antiporter activity
- transporter activity
|
| Process |
- cation transport
- cellular physiological process
- homeostasis
- ion homeostasis
- ion transport
- monovalent inorganic cation transport
- physiological process
- regulation of pH
- sodium ion transport
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 49 General Function |
Inorganic ion transport and metabolism |
| Enzyme 49 Specific Function |
Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction |
| Enzyme 49 Pathways |
Not Available |
| Enzyme 49 Reactions |
Not Available |
| Enzyme 49 Pfam Domain Function |
|
| Enzyme 49 Signals |
|
| Enzyme 49 Transmembrane Regions |
- 80-99
113-133
140-160
181-202
211-232
253-274
|