| Version |
2.5 |
| Creation Date |
2005-11-16 15:48:42 |
| Update Date |
2009-08-10 13:49:37 |
| Accession Number |
HMDB00248 |
| Secondary Accession Numbers |
HMDB01918 |
| Common Name |
Thyroxine |
| Description |
The thyronamines function via some unknown mechanism to inhibit neuronal activity; this plays an important role in the hibernation cycles of mammals. One effect of administering the thyronamines is a severe drop in body temperature.; Iodide is actively absorbed from the bloodstream and concentrated in the thyroid follicles. (If there is a deficiency of dietary iodine, the thyroid enlarges in an attempt to trap more iodine, resulting in goitre.) Via a reaction with the enzyme thyroperoxidase, iodine is covalently bound to tyrosine residues in the thyroglobulin molecules, forming monoiodotyrosine (MIT) and diiodotyrosine (DIT). Linking two moieties of DIT produces thyroxine. Combining one particle of MIT and one particle of DIT produces triiodothyronine.; Both T3 and T4 are used to treat thyroid hormone deficiency (hypothyroidism). They are both absorbed well by the gut, so can be given orally. Levothyroxine, the most commonly used synthetic thyroxine form, is a stereoisomer of physiological thyroxine, which is metabolized more slowly and hence usually only needs once-daily administration. Natural desiccated thyroid hormones, which are derived from pig thyroid glands, are a "natural" hypothyroid treatment containing 20% T3 and traces of T2, T1 and calcitonin.; this plays an important role in the hibernation cycles of mammals. One effect of administering the thyronamines is a severe drop in body temperature.; The major hormone derived from the thyroid gland. Thyroxine is synthesized via the iodination of tyrosines (monoiodotyrosine) and the coupling of iodotyrosines (diiodotyrosine) in the thyroglobulin. Thyroxine is released from thyroglobulin by proteolysis and secreted into the blood. Thyroxine is peripherally deiodinated to form triiodothyronine which exerts a broad spectrum of stimulatory effects on cell metabolism.; The thyronamines function via some unknown mechanism to inhibit neuronal activity |
| Synonyms |
- (-)-Thyroxine
- 3,3',5,5''-Tetraiodo-L-thyronine
- 3,3',5,5'-Tetraiodo-L-thyronine
- 3,5,3',5'-Tetraiodo-L-Thyronine
- 3,5,3',5'-Tetraiodothyronine
- 3,5,3'5'-Tetraiodo-L-thyronine
- DL-Thyroxin
- Henning
- L-3,5,3',5'-Tetraiodothyronine
- L-Thyroxin
- L-Thyroxine
- Laevothyroxinum
- Levothroid
- Levothyroxin
- Levothyroxine
- Levothyroxine sodium
- Levothyroxinum
- Levoxyl
- Prestwick_548
- Synthroid
- T4
- THX
- Tetraiodothyronine
- Tetramet
- Thyratabs
- Thyrax
- Thyreoideum
- Thyroxin
- Thyroxinal
- Thyroxine
- Thyroxine I 125
- Thyroxine iodine
- d-Thyroxine
|
| Chemical IUPAC Name |
2-amino-3-[4-(4-hydroxy-3,5-diiodo-phenoxy)-3,5-diiodo-phenyl]-propanoic acid |
| Chemical Formula |
C15H11I4NO4 |
| Chemical Structure |
 |
| Chemical Taxonomy |
| Kingdom |
|
| Super Class |
- Amino acids and Amino Acid conjugates
|
| Class |
|
| Sub Class |
|
| Family |
|
| Species |
- phenol or hydroxyhetarene
- diaryl ether
- primary amine
- primary aliphatic amine (alkylamine)
- aryl iodide
- carboxylic acid
- aromatic compound
- alpha-aminoacid
|
| Biofunction |
- Protein synthesis, amino acid biosynthesis
|
| Application |
| — |
| Source |
|
|
| Average Molecular Weight |
776.870 |
| Monoisotopic Molecular Weight |
776.686707 |
| Isomeric SMILES |
N[C@@H](CC1=CC(I)=C(OC2=CC(I)=C(O)C(I)=C2)C(I)=C1)C(O)=O |
| Canonical SMILES |
NC(CC1=CC(I)=C(OC2=CC(I)=C(O)C(I)=C2)C(I)=C1)C(O)=O |
| KEGG Compound ID |
C01829  |
| BioCyc ID |
L-THYROXINE  |
| BiGG ID |
38499  |
| Wikipedia Link |
Thyroxine  |
| NuGOwiki Link |
HMDB00248  |
| Metagene Link |
HMDB00248  |
| METLIN ID |
439  |
| PubChem Compound |
5819  |
| PubChem Substance |
821887  |
| ChEBI ID |
18332  |
| CAS Registry Number |
51-48-9 |
| InChI Identifier |
InChI=1/C15H11I4NO4/c16-8-4-7(5-9(17)13(8)21)24-14-10(18)1-6(2-11(14)19)3-12(20)15(22)23/h1-2,4-5,12,21H,3,20H2,(H,22,23)/t12-/m0/s1 |
| Synthesis Reference |
Martinovich, V. P.; Katok, Ya. M.; Fil'chenkov, N. A.; Sviridov, O. V. Conjugated synthesis of L-thyroxine and L-triiodothyronine. Vestsi Natsyyanal'nai Akademii Navuk Belarusi, Seryya Khimichnykh Navuk (2004), (1), 85-92. |
| Melting Point (Experimental) |
235.5 oC |
| Experimental Water Solubility |
Not Available
Source: PhysProp
|
| Predicted Water Solubility |
1.05e-07 mg/mL [MEYLAN,WM et al. (1996)]; 8.98e-03 mg/mL [Predicted by ALOGPS]
Calculated using ALOGPS
|
| Physiological Charge |
0 |
| State |
Solid |
| Experimental LogP/Hydrophobicity |
Not Available
Source: PhysProp
|
| Predicted LogP/Hydrophobicity |
1.15 [Predicted by ALOGPS]; 4 [Predicted by PubChem via XLOGP]; 4.12 [MEYLAN,WM & HOWARD,PH (1995)]
Calculated using ALOGPS
|
| Material Safety Data Sheet (MSDS) |
|
| MOL File |
Show |
| SDF File |
Show |
| PDB File |
Show |
| 2D Structure |
|
| 3D Structure |
|
| Experimental PDB ID |
Not Available |
| Experimental 1H NMR Spectrum |
Download Spectrum Download FID (Bruker) Show Experimental Conditions  |
| Experimental 13C NMR Spectrum |
Not Available |
| Experimental 13C HSQC Spectrum |
Download Spectrum Download FID (Bruker) Show Experimental Conditions  |
| Predicted 1H NMR Spectrum |
Show Image Show Peaklist
|
| Predicted 13C NMR Spectrum |
Show Image Show Peaklist
|
| Mass Spectrum |
|
| Simplified TOCSY Spectrum |
Not Available |
| BMRB Spectrum |
Not Available |
| Cellular Location |
- Membrane (Predicted from LogP)
- Cytoplasm
- Extracellular
|
| Biofluid Location |
|
| Tissue Location |
| Tissue |
References |
| Adipose Tissue |
— |
| Fibroblasts |
— |
| Gonads |
— |
| Intestine |
— |
| Muscle |
— |
| Myelin |
— |
| Nerve Cells |
— |
| Neuron |
— |
| Placenta |
— |
| Platelet |
— |
| Skeletal Muscle |
— |
| Spleen |
— |
| Testes |
— |
| Thyroid Gland |
— |
|
| Concentrations (Normal) |
| Biofluid |
Blood |
| Value |
0.0000144 +/- 0.0000036 uM |
| Age |
Adolescent:13-18 yrs old |
| Sex |
Female |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed
]
|
| Biofluid |
Blood |
| Value |
0.32 (0.16-0.47) uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Thyroxine iodine |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 80-82. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp., Basel, Switzerland c1981-1992.
|
| Biofluid |
Blood |
| Value |
0.00002 (0.00001-0.00003) uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Wu AHB. Tietz clinical guide to laboratory tests. 4th ed. St. Louis: Saunders/Elsevier, 2006.
|
| Biofluid |
Blood |
| Value |
0.000016 (0.0000064-0.000064) uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Gu J, Soldin OP, Soldin SJ: Simultaneous quantification of free triiodothyronine and free thyroxine by isotope dilution tandem mass spectrometry. Clin Biochem. 2007 Dec;40(18):1386-91. Epub 2007 Aug 24. [PubMed
]
|
| Biofluid |
Blood |
| Value |
0.12 +/- 0.0061 uM |
| Age |
Children:1-13 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Capo-Chichi CD, Feillet F, Gueant JL, Amouzou K, Zonon N, Sanni A, Lefebvre E, Assimadi K, Vidailhet M: Concentrations of riboflavin and related organic acids in children with protein-energy malnutrition. Am J Clin Nutr. 2000 Apr;71(4):978-86. [PubMed
]
|
| Biofluid |
Saliva |
| Value |
0.0 - 1.0 uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Gil'miiarova FN, Pervova IuV, Radomskaia VM, Gergel' NI, Tarasova SV: [Levels of unified metabolites and thyroid hormones in blood and oral fluid of children with minimal brain dysfunction] Biomed Khim. 2004 Mar-Apr;50(2):204-10. [PubMed
]
|
| Biofluid |
Urine |
| Value |
0.00032 +/- 0.00015 umol/mmol creatinine |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Chandurkar V, Shik J, Randell E: Exacerbation of underlying hypothyroidism caused by proteinuria and induction of urinary thyroxine loss: case report and subsequent investigation. Endocr Pract. 2008 Jan-Feb;14(1):97-103. [PubMed
]
|
|
| Concentrations (Abnormal) |
| Biofluid |
Blood |
| Value |
0.000011 +/- 0.0000016 uM |
| Age |
Adolescent:13-18 yrs old |
| Sex |
Female |
| Condition |
Anorexia nervosa |
| Comments |
Not Available |
| References |
- Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed
]
|
| Biofluid |
Blood |
| Value |
0.0000185 +/- 0.0000052 uM |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Condition |
Hypothyroidism |
| Comments |
Not Available |
| References |
- Sjoberg S, Eriksson M, Nordin C: L-thyroxine treatment and neurotransmitter levels in the cerebrospinal fluid of hypothyroid patients: a pilot study. Eur J Endocrinol. 1998 Nov;139(5):493-7. [PubMed
]
|
| Biofluid |
Blood |
| Value |
0.057 +/- 0.0058 uM |
| Age |
Children:1-13 yrs old |
| Sex |
Both |
| Comments |
Not Available |
| References |
- Capo-Chichi CD, Feillet F, Gueant JL, Amouzou K, Zonon N, Sanni A, Lefebvre E, Assimadi K, Vidailhet M: Concentrations of riboflavin and related organic acids in children with protein-energy malnutrition. Am J Clin Nutr. 2000 Apr;71(4):978-86. [PubMed
]
|
| Biofluid |
Urine |
| Value |
0.0015 +/- 0.00154 umol/mmol creatinine |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Condition |
Proteinuria |
| Comments |
Not Available |
| References |
- Chandurkar V, Shik J, Randell E: Exacerbation of underlying hypothyroidism caused by proteinuria and induction of urinary thyroxine loss: case report and subsequent investigation. Endocr Pract. 2008 Jan-Feb;14(1):97-103. [PubMed
]
|
|
| Associated Disorders |
| Condition |
References |
| Anorexia nervosa |
- Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed
]
|
| Hypothyroidism |
- Sjoberg S, Eriksson M, Nordin C: L-thyroxine treatment and neurotransmitter levels in the cerebrospinal fluid of hypothyroid patients: a pilot study. Eur J Endocrinol. 1998 Nov;139(5):493-7. [PubMed
]
|
| Proteinuria |
- Chandurkar V, Shik J, Randell E: Exacerbation of underlying hypothyroidism caused by proteinuria and induction of urinary thyroxine loss: case report and subsequent investigation. Endocr Pract. 2008 Jan-Feb;14(1):97-103. [PubMed
]
|
|
| OMIM ID |
|
| Pathways |
|
| General References |
- Kahan IL, Varsanyi-Nagy M, Toth M, Nadrai A: The possible role of tear fluid thyroxine in keratoconus development. Exp Eye Res. 1990 Apr;50(4):339-43. [PubMed
]
- Jagannathan NR, Tandon N, Raghunathan P, Kochupillai N: Reversal of abnormalities of myelination by thyroxine therapy in congenital hypothyroidism: localized in vivo proton magnetic resonance spectroscopy (MRS) study. Brain Res Dev Brain Res. 1998 Aug 8;109(2):179-86. [PubMed
]
- Kurz W, Wittlinger G, Litmanovitch YI, Romanoff H, Pfeifer Y, Tal E, Sulman FG: Effect of manual lymph drainage massage on urinary excretion of neurohormones and minerals in chronic lymphedema. Angiology. 1978 Oct;29(10):764-72. [PubMed
]
- Randolph VS: Four clinical chemistry analyses for pediatric patients: glycosylated hemoglobin, free bilirubin, sweat electrolytes, neonatal thyroxine. Am J Med Technol. 1982 Jan;48(1):15-22. [PubMed
]
- van Wassenaer AG, Stulp MR, Valianpour F, Tamminga P, Ris Stalpers C, de Randamie JS, van Beusekom C, de Vijlder JJ: The quantity of thyroid hormone in human milk is too low to influence plasma thyroid hormone levels in the very preterm infant. Clin Endocrinol (Oxf). 2002 May;56(5):621-7. [PubMed
]
- Etling N, Gehin-Fouque F, Vielh JP, Gautray JP: The iodine content of amniotic fluid and placental transfer of iodinated drugs. Obstet Gynecol. 1979 Mar;53(3):376-80. [PubMed
]
- Zenovko EI, Pavlov BA, Koreshkov GG, Gudukina GN, Sonkina EG: [Hypothalamo-pituitary-thyroid system in patients with rheumatoid arthritis] Ter Arkh. 1998;70(1):49-52. [PubMed
]
- Hays MT, McGuire RA, Hoogeveen JT, Diezeraad KN: Measurement method for radioactive thyroxine, triiodothyronine, iodide, and iodoprotein in samples with low activity. J Nucl Med. 1980 Mar;21(3):225-32. [PubMed
]
- Benvenga S, Alesci S, Trimarchi F: High-density lipoprotein-facilitated entry of thyroid hormones into cells: a mechanism different from the low-density lipoprotein-facilitated entry. Thyroid. 2002 Jul;12(7):547-56. [PubMed
]
- Gil'miiarova FN, Pervova IuV, Radomskaia VM, Gergel' NI, Tarasova SV: [Levels of unified metabolites and thyroid hormones in blood and oral fluid of children with minimal brain dysfunction] Biomed Khim. 2004 Mar-Apr;50(2):204-10. [PubMed
]
- Hausman GJ, Wright JT, Latimer A, Watson R, Martin RJ: The influence of human growth hormone (GH) and thyroxine (T4) on the differentiation of adipose tissue in the fetus. Obes Res. 1993 Sep;1(5):345-56. [PubMed
]
- Gil-Loyzaga P, Remezal M, Mollicone R, Ibanez A, Oriol R: H and B human blood-group antigen expression in cochlear hair cells is modulated by thyroxine. Cell Tissue Res. 1994 May;276(2):239-43. [PubMed
]
- Escobar-Morreale HF, Botella-Carretero JI, Gomez-Bueno M, Galan JM, Barrios V, Sancho J: Thyroid hormone replacement therapy in primary hypothyroidism: a randomized trial comparing L-thyroxine plus liothyronine with L-thyroxine alone. Ann Intern Med. 2005 Mar 15;142(6):412-24. [PubMed
]
- Bode HH, Vanjonack WJ, Crawford JD: Mitigation of cretinism by breast-feeding. Pediatrics. 1978 Jul;62(1):13-6. [PubMed
]
- Marks P, Anderson J, Vincent R: Aldosterone in myxoedema. Lancet. 1978 Dec 16;2(8103):1277-8. [PubMed
]
- Sutherland RL, Simpson-Morgan MW: The thyroxine-binding properties of serum proteins. A competitive binding technique employing sephadex G-25. J Endocrinol. 1975 Jun;65(3):319-32. [PubMed
]
- Braley-Mullen H, Sharp GC: A thyroxine-containing thyroglobulin peptide induces both lymphocytic and granulomatous forms of experimental autoimmune thyroiditis. J Autoimmun. 1997 Dec;10(6):531-40. [PubMed
]
- Raghu P, Reddy GB, Sivakumar B: Inhibition of transthyretin amyloid fibril formation by 2,4-dinitrophenol through tetramer stabilization. Arch Biochem Biophys. 2002 Apr 1;400(1):43-7. [PubMed
]
- Hekimsoy Z, Oktem IK: Serum creatine kinase levels in overt and subclinical hypothyroidism. Endocr Res. 2005;31(3):171-5. [PubMed
]
- Wikipedia

|
| Metabolic Enzymes |
- Thyroid peroxidase precursor
- Solute carrier organic anion transporter family member 1C1
- Solute carrier organic anion transporter family member 1B1
- Type I iodothyronine deiodinase
- Type II iodothyronine deiodinase
- Transthyretin precursor
- Thyroxine-binding globulin precursor
- 4F2 cell-surface antigen heavy chain
- Type III iodothyronine deiodinase
|
|
Enzyme 1
[top]
|
| Enzyme 1 ID |
5508 |
| Enzyme 1 Name |
Thyroid peroxidase precursor |
| Enzyme 1 Synonyms |
- TPO
|
| Enzyme 1 Gene Name |
TPO |
| Enzyme 1 Protein Sequence |
>Thyroid peroxidase precursor
MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQR
NLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKVNLKTQQSQHPTDALS
EDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNTALARWLPPV
YEDGFSQPRGWNPGFLYNGFPLPPVREVTRHVIQVSNEVVTDDDRYSDLLMAWGQYIDHD
IAFTPQSTSKAAFGGGADCQMTCENQNPCFPIQLPEEARPAAGTACLPFYRSSAACGTGD
QGALFGNLSTANPRQQMNGLTSFLDASTVYGSSPALERQLRNWTSAEGLLRVHARLRDSG
RAYLPFVPPRAPAACAPEPGIPGETRGPCFLAGDGRASEVPSLTALHTLWLREHNRLAAA
LKALNAHWSADAVYQEARKVVGALHQIITLRDYIPRILGPEAFQQYVGPYEGYDSTANPT
VSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLRGGGLDPLIR
GLLARPAKLQVQDQLMNEELTERLFVLSNSSTLDLASINLQRGRDHGLPGYNEWREFCGL
PRLETPADLSTAIASRSVADKILDLYKHPDNIDVWLGGLAENFLPRARTGPLFACLIGKQ
MKALRDGDWFWWENSHVFTDAQRRELEKHSLSRVICDNTGLTRVPMDAFQVGKFPEDFES
CDSIPGMNLEAWRETFPQDDKCGFPESVENGDFVHCEESGRRVLVYSCRHGYELQGREQL
TCTQEGWDFQPPLCKDVNECADGAHPPCHASARCRNTKGGFQCLCADPYELGDDGRTCVD
SGRLPRATWISMSLAALLIGGFAGLTSTVICRWTRTGTKSTLPISETGGGTPELRCGKHQ
AVGTSPQRAAAQDSEQESAGMEGRDTHRLPRAL
|
| Enzyme 1 Number of Residues |
933 |
| Enzyme 1 Molecular Weight |
102932 |
| Enzyme 1 Theoretical pI |
6.75 |
| Enzyme 1 GO Classification |
| Function |
- antioxidant activity
- binding
- calcium ion binding
- cation binding
- ion binding
- peroxidase activity
|
| Process |
- cellular metabolism
- metabolism
- oxygen and reactive oxygen species metabolism
- physiological process
- response to oxidative stress
|
| Component |
| — |
|
| Enzyme 1 General Function |
Not Available |
| Enzyme 1 Specific Function |
Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4) |
| Enzyme 1 Pathways |
|
| Enzyme 1 Reactions |
- iodide + H2O2 = iodine + 2 H2O
|
| Enzyme 1 Pfam Domain Function |
|
| Enzyme 1 Signals |
|
| Enzyme 1 Transmembrane Regions |
|
| Enzyme 1 Essentiality |
Not Available |
| Enzyme 1 GenBank ID Protein |
339867  |
| Enzyme 1 UniProtKB/Swiss-Prot ID |
P07202  |
| Enzyme 1 UniProtKB/Swiss-Prot Entry Name |
PERT_HUMAN  |
| Enzyme 1 PDB ID |
Not Available |
| Enzyme 1 Cellular Location |
Not Available |
| Enzyme 1 Gene Sequence |
>2802 bp
ATGAGAGCGCTCGCTGTGCTGTCTGTCACGCTGGTTATGGCCTGCACAGAAGCCTTCTTC
CCCTTCATCTCGAGAGGGAAAGAACTCCTTTGGGGAAAGCCTGAGGAGTCTCGTGTCTCT
AGCGTCTTGGAGGAAAGCAAGCGCCTGGTGGACACCGCCATGTACGCCACGATGCAGAGA
AACCTCAAGAAAAGAGGAATCCTTTCTCCAGCTCAGCTTCTGTCTTTTTCCAAACTTCCT
GAGCCAACAAGCGGAGTGATTGCCCGAGCAGCAGAGATAATGGAAACATCAATACAAGCG
ATGAAAAGAAAAGTCAACCTGAAAACTCAACAATCACAGCATCCAACGGATGCTTTATCA
GAAGATCTGCTGAGCATCATTGCAAACATGTCTGGATGTCTCCCTTACATGCTGCCCCCA
AAATGCCCAAACACTTGCCTGGCGAACAAATACAGGCCCATCACAGGAGCTTGCAACAAC
AGAGACCACCCCAGATGGGGCGCCTCCAACACGGCCCTGGCACGATGGCTCCCTCCAGTC
TATGAGGACGGCTTCAGTCAGCCCCGAGGCTGGAACCCCGGCTTCTTGTACAACGGGTTC
CCACTGCCCCCGGTCCGGGAGGTGACAAGACATGTCATTCAAGTTTCAAATGAGGTTGTC
ACAGATGATGACCGCTATTCTGACCTCCTGATGGCATGGGGACAATACATCGACCACGAC
ATCGCGTTCACACCACAGAGCACCAGCAAAGCTGCCTTCGGGGGAGGGGCTGACTGCCAG
ATGACTTGTGAGAACCAAAACCCATGTTTTCCCATACAACTCCCGGAGGAGGCCCGGCCG
GCCGCGGGCACCGCCTGTCTGCCCTTCTACCGCTCTTCGGCCGCCTGCGGCACCGGGGAC
CAAGGCGCGCTCTTTGGGAACCTGTCCACGGCCAACCCGCGGCAGCAGATGAACGGGTTG
ACCTCGTTCCTGGACGCGTCCACCGTGTATGGCAGCTCCCCGGCCCTAGAGAGGCAGCTG
CGGAACTGGACCAGTGCCGAAGGGCTGCTCCGCGTCCACGCGCGCCTCCGGGACTCCGGC
CGCGCCTACCTGCCCTTCGTGCCGCCACGGCGGCCTGCGGCCTGTGCGCCCGAGCCCGGC
ATCCCCGGAGAGACCCGCGGGCCCTGCTTCCTGGCCGGAGACGGCCGCGCCAGCGAGGTC
CCCTCCCTGACGGCACTGCACACGCTGTGGCTGCGCGAGCACAACCGCCTGGCCGCGGCG
CTCAAGGCCCTCAATGCGCACTGGAGCGCGGACGCCGTGTACCAGGAGGCGCGCAAGGTC
GTGGGCGCTCTGCACCAGATCATCACCCTGAGGGATTACATCCCCAGGATCCTGGGACCC
GAGGCCTTCCAGCAGTACGTGGGTCCCTATGAAGGCTATGACTCCACCGCCAACCCCACT
GTGTCCAACGTGTTCTCCACAGCCGCCTTCCGCTTCGGCCATGCCACGATCCACCCGCTG
GTGAGGAGGCTGGACGCCAGCTTCCAGGAGCACCCCGACCTGCCCGGGCTGTGGCTGCAC
CAGGCTTTCTTCAGCCCATGGACATTACTCCGTGGAGGTGGTTTGGACCCACTAATACGA
GGCCTTCTTGCAAGACCAGCCAAACTGCAGGTGCAGGATCAGCTGATGAACGAGGAGCTG
ACGGAAAGGCTCTTTGTGCTGTCCAATTCCAGCACCTTGGATCTGGCGTCCATCAACCTG
CAGAGGGGCCGGGACCACGGGCTGCCAGGTTACAATGAGTGGAGGGAGTTCTGCGGCCTG
CCTCGCCTGGAGACCCCCGCTGACCTGAGCACAGCCATCGCCAGCAGGAGCGTGGCCGAC
AAGATCCTGGACTTGTACAAGCATCCTGACAACATCGATGTCTGGCTGGGAGGCTTAGCT
GAAAACTTCCTCCCCAGGGCTCGGACAGGGCCCCTGTTTGCCTGTCTCATTGGGAAGCAG
ATGAAGGCTCTGCGGGATGGTGACTGGTTTTGGTGGGAGAACAGCCACGTCTTCACGGAT
GCACAGAGGCGTGAGCTGGAGAAGCACTCCCTGTCTCGGGTCATCTGTGACAACACTGGC
CTCACCAGGGTGCCCATGGATGCCTTCCAAGTCGGCAAATTCCCTGAAGACTTTGAGTCT
TGTGACAGCATCCCTGGCATGAACCTGGAGGCCTGGAGGGAAACCTTTCCTCAAGACGAC
AAGTGTGGCTTCCCAGAGAGCGTGGAGAATGGGGACTTTGTGCACTGTGAGGAGTCTGGG
AGGCGCGTGCTGGTGTATTCCTGCCGGCACGGGTATGAGCTCCAAGGCCGGGAGCAGCTC
ACTTGCACCCAGGAAGGATGGGATTTCCAGCCTCCCCTCTGCAAAGATGTGAACGAGTGT
GCAGACGGTGCCCACCCCCCCTGCCACGCCTCTGCGAGGTGCAGAAACACCAAAGGCGGC
TTCCAGTGTCTCTGCGCGGACCCCTACGAGTTAGGAGACGATGGGAGAACCTGCGTAGAC
TCCGGGAGGCTCCCTCGGGCGACTTGGATCTCCATGTCGCTGGCTGCTCTGCTGATCGGA
GGCTTCGCAGGTCTCACCTCGACGGTGATTTGCAGGTGGACACGCACTGGCACTAAATCC
ACACTGCCCATCTCGGAGACAGGCGGAGGAACTCCCGAGCTGAGATGCGGAAAGCACCAG
GCCGTAGGGACCTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGAGAGTGCTGGG
ATGGAAGGCCGGGATACTCACAGGCTGCCGAGAGCCCTCTGA
|
| Enzyme 1 GenBank Gene ID |
J02969  |
| Enzyme 1 GeneCard ID |
TPO  |
| Enzyme 1 GenAtlas ID |
TPO  |
| Enzyme 1 HGNC ID |
HGNC:12015  |
| Enzyme 1 Chromosome Location |
2 |
| Enzyme 1 Locus |
2p25 |
| Enzyme 1 SNPs |
SNPJam Report  |
| Enzyme 1 General References |
- Kimura S, Kotani T, McBride OW, Umeki K, Hirai K, Nakayama T, Ohtaki S: Human thyroid peroxidase: complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs. Proc Natl Acad Sci U S A. 1987 Aug;84(16):5555-9. [PubMed
]
- Libert F, Ruel J, Ludgate M, Swillens S, Alexander N, Vassart G, Dinsart C: Complete nucleotide sequence of the human thyroperoxidase-microsomal antigen cDNA. Nucleic Acids Res. 1987 Aug 25;15(16):6735. [PubMed
]
- Kimura S, Hong YS, Kotani T, Ohtaki S, Kikkawa F: Structure of the human thyroid peroxidase gene: comparison and relationship to the human myeloperoxidase gene. Biochemistry. 1989 May 16;28(10):4481-9. [PubMed
]
- Barnett PS, Banga JP, Watkins J, Huang GC, Gluckman DR, Page MJ, McGregor AM: Nucleotide sequence of the alternatively spliced human thyroid peroxidase cDNA, TPO-2. Nucleic Acids Res. 1990 Feb 11;18(3):670. [PubMed
]
- Ferrand M, Le Fourn V, Franc JL: Increasing diversity of human thyroperoxidase generated by alternative splicing. Characterized by molecular cloning of new transcripts with single- and multispliced mRNAs. J Biol Chem. 2003 Feb 7;278(6):3793-800. Epub 2002 Nov 25. [PubMed
]
- Seto P, Hirayu H, Magnusson RP, Gestautas J, Portmann L, DeGroot LJ, Rapoport B: Isolation of a complementary DNA clone for thyroid microsomal antigen. Homology with the gene for thyroid peroxidase. J Clin Invest. 1987 Oct;80(4):1205-8. [PubMed
]
- Zanelli E, Henry M, Charvet B, Malthiery Y: Evidence for an alternate splicing in the thyroperoxidase messenger from patients with Graves' disease. Biochem Biophys Res Commun. 1990 Jul 31;170(2):735-41. [PubMed
]
- Bikker H, Vulsma T, Baas F, de Vijlder JJ: Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. Hum Mutat. 1995;6(1):9-16. [PubMed
]
- Bikker H, Baas F, De Vijlder JJ: Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects. J Clin Endocrinol Metab. 1997 Feb;82(2):649-53. [PubMed
]
- Santos CL, Bikker H, Rego KG, Nascimento AC, Tambascia M, De Vijlder JJ, Medeiros-Neto G: A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect. Clin Endocrinol (Oxf). 1999 Aug;51(2):165-72. [PubMed
]
- Pannain S, Weiss RE, Jackson CE, Dian D, Beck JC, Sheffield VC, Cox N, Refetoff S: Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. J Clin Endocrinol Metab. 1999 Mar;84(3):1061-71. [PubMed
]
- Kotani T, Umeki K, Yamamoto I, Maesaka H, Tachibana K, Ohtaki S: A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect. J Endocrinol. 1999 Feb;160(2):267-73. [PubMed
]
- Bakker B, Bikker H, Vulsma T, de Randamie JS, Wiedijk BM, De Vijlder JJ: Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). J Clin Endocrinol Metab. 2000 Oct;85(10):3708-12. [PubMed
]
- Ambrugger P, Stoeva I, Biebermann H, Torresani T, Leitner C, Gruters A: Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism. Eur J Endocrinol. 2001 Jul;145(1):19-24. [PubMed
]
- Umeki K, Kotani T, Kawano J, Suganuma T, Yamamoto I, Aratake Y, Furujo M, Ichiba Y: Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. Eur J Endocrinol. 2002 Apr;146(4):491-8. [PubMed
]
- Niu DM, Hwang B, Chu YK, Liao CJ, Wang PL, Lin CY: High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect. J Clin Endocrinol Metab. 2002 Sep;87(9):4208-12. [PubMed
]
- Wu JY, Shu SG, Yang CF, Lee CC, Tsai FJ: Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations. J Endocrinol. 2002 Mar;172(3):627-35. [PubMed
]
- Rivolta CM, Esperante SA, Gruneiro-Papendieck L, Chiesa A, Moya CM, Domene S, Varela V, Targovnik HM: Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect. Hum Mutat. 2003 Sep;22(3):259. [PubMed
]
|
| Enzyme 1 Metabolite References |
Not Available |
|
Enzyme 2
[top]
|
| Enzyme 2 ID |
5689 |
| Enzyme 2 Name |
Solute carrier organic anion transporter family member 1C1 |
| Enzyme 2 Synonyms |
- Solute carrier family 21 member 14
- Organic anion transporter F
- OATP-F
- Organic anion-transporting polypeptide 14
- Organic anion transporter polypeptide-related protein 5
- OAT-RP-5
- OATPRP5
|
| Enzyme 2 Gene Name |
SLCO1C1 |
| Enzyme 2 Protein Sequence |
>Solute carrier organic anion transporter family member 1C1
MDTSSKENIQLFCKTSVQPVGRPSFKTEYPSSEEKQPCCGELKVFLCALSFVYFAKALAE
GYLKSTITQIERRFDIPSSLVGVIDGSFEIGNLLVITFVSYFGAKLHRPKIIGAGCVIMG
VGTLLIAMPQFFMEQYKYERYSPSSNSTLSISPCLLESSSQLPVSVMEKSKSKISNECEV
DTSSSMWIYVFLGNLLRGIGETPIQPLGIAYLDDFASEDNAAFYIGCVQTVAIIGPIFGF
LLGSLCAKLYVDIGFVNLDHITITPKDPQWVGAWWLGYLIAGIISLLAAVPFWYLPKSLP
RSQSREDSNSSSEKSKFIIDDHTDYQTPQGENAKIMEMARDFLPSLKNLFGNPVYFLYLC
TSTVQFNSLFGMVTYKPKYIEQQYGQSSSRANFVIGLINIPAVALGIFSGGIVMKKFRIS
VCGAAKLYLGSSVFGYLLFLSLFALGCENSDVAGLTVSYQGTKPVSYHERALFSDCNSRC
KCSETKWEPMCGENGITYVSACLAGCQTSNRSGKNIIFYNCTCVGIAASKSGNSSGIVGR
CQKDNGCPQMFLYFLVISVITSYTLSLGGIPGYILLLRCIKPQLKSFALGIYTLAIRVLA
GIPAPVYFGVLIDTSCLKWGFKRCGSRGSCRLYDSNVFRHIYLGLTVILGTVSILLSIAV
LFILKKNYVSKHRSFITKRERTMVSTRFQKENYTTSDHLLQPNYWPGKETQL
|
| Enzyme 2 Number of Residues |
712 |
| Enzyme 2 Molecular Weight |
78697 |
| Enzyme 2 Theoretical pI |
8.59 |
| Enzyme 2 GO Classification |
| Function |
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 2 General Function |
Not Available |
| Enzyme 2 Specific Function |
Mediates the Na(+)-independent high affinity transport of organic anions such as the thyroid hormones thyroxine (T4) and rT3. Other potential substrates, such as triiodothyronine (T3), 17-beta-glucuronosyl estradiol, estrone-3-sulfate and sulfobromophthalein (BSP) are transported with much lower efficiency |
| Enzyme 2 Pathways |
Not Available |
| Enzyme 2 Reactions |
Not Available |
| Enzyme 2 Pfam Domain Function |
|
| Enzyme 2 Signals |
|
| Enzyme 2 Transmembrane Regions |
- 80-100
111-131
222-242
270-290
353-373
393-413
427-447
550-570
592-612
643-663
|
| Enzyme 2 Essentiality |
Not Available |
| Enzyme 2 GenBank ID Protein |
7839587  |
| Enzyme 2 UniProtKB/Swiss-Prot ID |
Q9NYB5  |
| Enzyme 2 UniProtKB/Swiss-Prot Entry Name |
SO1C1_HUMAN  |
| Enzyme 2 PDB ID |
Not Available |
| Enzyme 2 Cellular Location |
Not Available |
| Enzyme 2 Gene Sequence |
>2139 bp
ATGGACACTTCATCCAAAGAAAATATCCAGTTGTTCTGCAAAACTTCAGTGCAACCTGTT
GGAAGGCCTTCTTTTAAAACAGAATATCCCTCCTCAGAAGAAAAGCAACCATGCTGTGGT
GAACTAAAGGTGTTCTTGTGTGCCTTGTCTTTTGTTTACTTTGCCAAAGCATTGGCAGAA
GGCTATCTGAAGAGCACCATCACTCAGATAGAGAGAAGGTTTGATATCCCTTCTTCACTG
GTGGGAGTTATTGATGGTAGTTTTGAAATTGGGAATCTCTTAGTTATAACATTTGTTAGC
TACTTTGGAGCCAAACTTCACAGGCCAAAAATAATTGGAGCAGGGTGTGTAATCATGGGA
GTTGGAACACTGCTCATTGCAATGCCTCAGTTCTTCATGGAGCAGTACAAATATGAGAGA
TATTCTCCTTCCTCCAATTCCACTCTCAGCATCTCTCCGTGTCTCCTAGAGTCAAGCAGT
CAATTACCAGTTTCAGTTATGGAAAAATCAAAATCCAAAATAAGTAACGAATGTGAAGTG
GACACTAGCTCTTCCATGTGGATTTATGTTTTCCTGGGCAATCTTCTTCGTGGAATAGGA
GAAACTCCCATTCAGCCTTTGGGCATTGCCTACCTGGATGATTTTGCCAGTGAAGACAAT
GCAGCTTTCTATATTGGGTGTGTGCAGACGGTTGCAATTATAGGACCAATCTTTGGTTTC
CTGTTAGGCTCATTATGTGCCAAACTATATGTTGACATTGGCTTTGTAAACCTAGATCAC
ATAACCATTACCCCAAAAGATCCCCAGTGGGTAGGAGCCTGGTGGCTTGGCTATCTAATA
GCAGGAATCATAAGTCTTCTTGCAGCTGTGCCTTTCTGGTATTTACCAAAGAGTTTACCA
AGATCCCAAAGTAGAGAGGATTCTAATTCTTCCTCTGAGAAATCCAAGTTTATTATAGAT
GATCACACAGACTACCAAACACCCCAGGGAGAAAATGCAAAAATAATGGAAATGGCAAGA
GATTTTCTTCCATCACTGAAGAATCTTTTTGGAAACCCAGTATACTTCCTATATTTATGT
ACAAGCACTGTTCAGTTCAATTCTCTGTTCGGCATGGTGACGTACAAACCAAAGTACATT
GAGCAGCAGTATGGACAGTCATCCTCCAGGGCCAACTTTGTGATCGGGCTCATCAACATT
CCAGCAGTGGCCCTTGGAATATTCTCTGGGGGGATAGTTATGAAAAAATTCAGAATCAGT
GTGTGTGGAGCTGCAAAACTCTACTTGGGATCATCTGTCTTTGGTTACCTCCTATTTCTT
TCCCTGTTTGCACTGGGCTGTGAAAATTCTGATGTGGCAGGACTAACTGTCTCCTACCAA
GGAACCAAACCTGTCTCTTATCATGAACGAGCTCTCTTTTCAGATTGCAACTCAAGATGC
AAATGTTCAGAGACAAAATGGGAACCCATGTGCGGTGAAAATGGAATCACATATGTATCA
GCTTGTCTTGCTGGTTGTCAAACCTCCAACAGGAGTGGAAAAAATATTATATTTTACAAC
TGCACTTGTGTGGGAATTGCAGCTTCTAAATCCGGAAATTCCTCAGGCATAGTGGGAAGA
TGTCAGAAAGACAATGGATGTCCCCAAATGTTTCTGTATTTCCTTGTAATTTCAGTCATC
ACATCCTATACTTTATCCCTAGGTGGCATACCTGGATACATATTACTTCTGAGGTGCATT
AAGCCACAGCTTAAGTCTTTTGCCTTGGGTATCTACACATTAGCAATAAGAGTTCTTGCA
GGAATCCCAGCTCCAGTGTATTTTGGAGTTTTGATTGATACTTCATGCCTCAAATGGGGA
TTTAAAAGATGTGGAAGTAGAGGATCATGCAGATTATATGATTCAAATGTCTTCAGACAT
ATATATCTGGGACTAACTGTGATACTGGGCACAGTGTCAATTCTCCTAAGCATTGCAGTA
CTTTTCATTTTAAAGAAAAATTATGTTTCAAAACACAGAAGTTTTATAACCAAGAGAGAA
AGAACAATGGTGTCTACAAGATTCCAAAAGGAAAATTACACTACAAGTGATCATCTGCTA
CAACCCAACTACTGGCCAGGCAAGGAAACTCAACTTTAG
|
| Enzyme 2 GenBank Gene ID |
AF260704  |
| Enzyme 2 GeneCard ID |
SLCO1C1  |
| Enzyme 2 GenAtlas ID |
SLCO1C1  |
| Enzyme 2 HGNC ID |
HGNC:13819  |
| Enzyme 2 Chromosome Location |
12 |
| Enzyme 2 Locus |
12p12.2 |
| Enzyme 2 SNPs |
SNPJam Report  |
| Enzyme 2 General References |
- Pizzagalli F, Hagenbuch B, Stieger B, Klenk U, Folkers G, Meier PJ: Identification of a novel human organic anion transporting polypeptide as a high affinity thyroxine transporter. Mol Endocrinol. 2002 Oct;16(10):2283-96. [PubMed
]
|
| Enzyme 2 Metabolite References |
Not Available |
|
Enzyme 3
[top]
|
| Enzyme 3 ID |
5692 |
| Enzyme 3 Name |
Solute carrier organic anion transporter family member 1B1 |
| Enzyme 3 Synonyms |
- Solute carrier family 21 member 6
- Sodium-independent organic anion- transporting polypeptide 2
- OATP 2
- Liver-specific organic anion transporter 1
- LST-1
- OATP-C
|
| Enzyme 3 Gene Name |
SLCO1B1 |
| Enzyme 3 Protein Sequence |
>Solute carrier organic anion transporter family member 1B1
MDQNQHLNKTAEAQPSENKKTRYCNGLKMFLAALSLSFIAKTLGAIIMKSSIIHIERRFE
ISSSLVGFIDGSFEIGNLLVIVFVSYFGSKLHRPKLIGIGCFIMGIGGVLTALPHFFMGY
YRYSKETNINSSENSTSTLSTCLINQILSLNRASPEIVGKGCLKESGSYMWIYVFMGNML
RGIGETPIVPLGLSYIDDFAKEGHSSLYLGILNAIAMIGPIIGFTLGSLFSKMYVDIGYV
DLSTIRITPTDSRWVGAWWLNFLVSGLFSIISSIPFFFLPQTPNKPQKERKASLSLHVLE
TNDEKDQTANLTNQGKNITKNVTGFFQSFKSILTNPLYVMFVLLTLLQVSSYIGAFTYVF
KYVEQQYGQPSSKANILLGVITIPIFASGMFLGGYIIKKFKLNTVGIAKFSCFTAVMSLS
FYLLYFFILCENKSVAGLTMTYDGNNPVTSHRDVPLSYCNSDCNCDESQWEPVCGNNGIT
YISPCLAGCKSSSGNKKPIVFYNCSCLEVTGLQNRNYSAHLGECPRDDACTRKFYFFVAI
QVLNLFFSALGGTSHVMLIVKIVQPELKSLALGFHSMVIRALGGILAPIYFGALIDTTCI
KWSTNNCGTRGSCRTYNSTSFSRVYLGLSSMLRVSSLVLYIILIYAMKKKYQEKDINASE
NGSVMDEANLESLNKNKHFVPSAGADSETHC
|
| Enzyme 3 Number of Residues |
691 |
| Enzyme 3 Molecular Weight |
76450 |
| Enzyme 3 Theoretical pI |
8.68 |
| Enzyme 3 GO Classification |
| Function |
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
- cell
- integral to membrane
- intrinsic to membrane
- membrane
|
|
| Enzyme 3 General Function |
Carbohydrate transport and metabolism |
| Enzyme 3 Specific Function |
Mediates the Na(+)-independent transport of organic anions such as pravastatin, taurocholate, methotrexate, dehydroepiandrosterone sulfate, 17-beta-glucuronosyl estradiol, estrone sulfate, prostaglandin E2, thromboxane B2, leukotriene C3, leukotriene E4, thyroxine and triiodothyronine. May play an important role in the clearance of bile acids and organic anions from the liver |
| Enzyme 3 Pathways |
Not Available |
| Enzyme 3 Reactions |
Not Available |
| Enzyme 3 Pfam Domain Function |
|
| Enzyme 3 Signals |
|
| Enzyme 3 Transmembrane Regions |
- 97-117
207-227
259-279
336-356
376-396
410-430
575-595
|
| Enzyme 3 Essentiality |
Not Available |
| Enzyme 3 GenBank ID Protein |
5051630  |
| Enzyme 3 UniProtKB/Swiss-Prot ID |
Q9Y6L6  |
| Enzyme 3 UniProtKB/Swiss-Prot Entry Name |
SO1B1_HUMAN  |
| Enzyme 3 PDB ID |
Not Available |
| Enzyme 3 Cellular Location |
Not Available |
| Enzyme 3 Gene Sequence |
>2076 bp
ATGGACCAAAATCAACATTTGAATAAAACAGCAGAGGCACAACCTTCAGAGAATAAGAAA
ACAAGATACTGCAATGGATTGAAGATGTTCTTGGCAGCTCTGTCACTCAGCTTTATTGCT
AAGACACTAGGTGCAATTATTATGAAAAGTTCCATCATTCATATAGAACGGAGATTTGAG
ATATCCTCTTCTCTTGTTGGTTTTATTGACGGAAGCTTTGAAATTGGAAATTTGCTTGTG
ATTGTATTTGTGAGTTACTTTGGATCCAAACTACATAGACCAAAGTTAATTGGAATCGGT
TGTTTCATTATGGGAATTGGAGGTGTTTTGACTGCTTTGCCACATTTCTTCATGGGATAT
TACAGGTATTCTAAAGAAACTAATATCAATTCATCAGAAAATTCAACATCGACCTTATCC
ACTTGTTTAATTAATCAAATTTTATCACTCAATAAAGCATCACCTGAGATAGTGGGAAAA
GGTTGTTTAAAGGAATCTGGGTCATACATGTGGATATATGTGTTCATGGGTAATATGCTT
CGTGGAATAGGGGAGACTCCCATAGTACCACTGGGGCTTTCTTACATTGATGATTTCGCT
AAAGAAGGACATTCTTCTTTGTATTTAGGTATATTGAATGCAATAGCAATGATTGGTCCA
ATCATTGGCTTTACCCTGGGATCTCTGTTTTCTAAAATGTACGTGGATATTGGATATGTT
AATCTAAGCACTATCAGGATAACTCCTACTGATTCTCGATGGGTTGGAGCTTGGTGGCTT
AATTTCCTTGTGTCTGGACTATTCTCCATTATTTCTTCCATACCATTCTTTTTCTTGCCC
CAAACTCCAAATAAACCACAAAAAGAAAGAAAAGCTTCACTGTCTTTGCATGTGCTGGAA
ACAAATGATGAAAAGGATCAAACAGCTAATTTGACCAATCAAGGAAAAAATATTACCAAA
AATGTGACTGGTTTTTTCCAGTCTTTTAAAAGCATCCTTACTAATCCCCTGTATGTTATG
TTTGTGCTTTTGACGTTGTTACAAGTAAGCAGCTATATTGGTGCTTTTACTTATGTCTTC
AAATACGTAGAGCAACAGTATGGTCAGCCTTCATCTAAGGCTAACATCTTATTGGGAGTC
ATAACCATACCTATTTTTGCAAGTGGAATGTTTTTAGGAGGATATATCATTAAAAAATTC
AAACTGAACACCGTTGGAATTGCCAAATTCTCATGTTTTACTGCTGTGATGTCATTGTCC
TTTTACCTATTATATTTTTTCATACTCTGTGAAAACAAATCAGTTGCCGGACTAACCATG
ACCTATGATGGAAATAATCCAGTGACATCTCATAGAGATGTACCACTTTCTTATTGCAAC
TCAGACTGCAATTGTGATGAAAGTCAATGGGAACCAGTCTGTGGAAACAATGGAATAACT
TACATCTCACCCTGTCTAGCAGGTTGCAAATCTTCAAGTGGCAATAAAAAGCCTATAGTG
TTTTACAACTGCAGTTGTTTGGAAGTAACTGGTCTCCAGAACAGAAATTACTCAGCCCAT
TTGGGTGAATGCCCAAGAGATGATGCTTGTACAAGGAAATTTTACTTTTTTGTTGCAATA
CAAGTCTTGAATTTATTTTTCTCTGCACTTGGAGGCACCTCACATGTCATGCTGATTGTT
AAAATTGTTCAACCTGAATTGAAATCACTTGCACTGGGTTTCCACTCAATGGTTATACGA
GCACTAGGAGGAATTCTAGCTCCTATATATTTTGGGGCTCTGATTGATACAACGTGTATA
AAGTGGTCCACCAACAACTGTGGCACACGTGGGTCATGTAGGACATATAATTCCACATCA
TTTTCAAGGGTCTACTTGGGCTTGTCTTCAATGTTAAGAGTCTCATCACTTGTTTTATAT
ATTATATTAATTTATGCCATGAAGAAAAAATATCAAGAGAAAGATATCAATGCATCAGAA
AATGGAAGTGTCATGGATGAAGCAAACTTAGAATCCTTAAATAAAAATAAACATTTTGTC
CCTTCTGCTGGGGCAGATAGTGAAACACATTGTTAA
|
| Enzyme 3 GenBank Gene ID |
AF060500  |
| Enzyme 3 GeneCard ID |
SLCO1B1  |
| Enzyme 3 GenAtlas ID |
SLCO1B1  |
| Enzyme 3 HGNC ID |
HGNC:10959  |
| Enzyme 3 Chromosome Location |
12 |
| Enzyme 3 Locus |
12p |
| Enzyme 3 SNPs |
SNPJam Report  |
| Enzyme 3 General References |
- Abe T, Kakyo M, Tokui T, Nakagomi R, Nishio T, Nakai D, Nomura H, Unno M, Suzuki M, Naitoh T, Matsuno S, Yawo H: Identification of a novel gene family encoding human liver-specific organic anion transporter LST-1. J Biol Chem. 1999 Jun 11;274(24):17159-63. [PubMed
]
- Hsiang B, Zhu Y, Wang Z, Wu Y, Sasseville V, Yang WP, Kirchgessner TG: A novel human hepatic organic anion transporting polypeptide (OATP2). Identification of a liver-specific human organic anion transporting polypeptide and identification of rat and human hydroxymethylglutaryl-CoA reductase inhibitor transporters. J Biol Chem. 1999 Dec 24;274(52):37161-8. [PubMed
]
- Konig J, Cui Y, Nies AT, Keppler D: A novel human organic anion transporting polypeptide localized to the basolateral hepatocyte membrane. Am J Physiol Gastrointest Liver Physiol. 2000 Jan;278(1):G156-64. [PubMed
]
- Konig J, Cui Y, Nies AT, Keppler D: Localization and genomic organization of a new hepatocellular organic anion transporting polypeptide. J Biol Chem. 2000 Jul 28;275(30):23161-8. [PubMed
]
- Tirona RG, Leake BF, Merino G, Kim RB: Polymorphisms in OATP-C: identification of multiple allelic variants associated with altered transport activity among European- and African-Americans. J Biol Chem. 2001 Sep 21;276(38):35669-75. Epub 2001 Jul 26. [PubMed
]
- Michalski C, Cui Y, Nies AT, Nuessler AK, Neuhaus P, Zanger UM, Klein K, Eichelbaum M, Keppler D, Konig J: A naturally occurring mutation in the SLC21A6 gene causing impaired membrane localization of the hepatocyte uptake transporter. J Biol Chem. 2002 Nov 8;277(45):43058-63. Epub 2002 Aug 23. [PubMed
]
- Nozawa T, Nakajima M, Tamai I, Noda K, Nezu J, Sai Y, Tsuji A, Yokoi T: Genetic polymorphisms of human organic anion transporters OATP-C (SLC21A6) and OATP-B (SLC21A9): allele frequencies in the Japanese population and functional analysis. J Pharmacol Exp Ther. 2002 Aug;302(2):804-13. [PubMed
]
|
| Enzyme 3 Metabolite References |
Not Available |
|
Enzyme 4
[top]
|
| Enzyme 4 ID |
6350 |
| Enzyme 4 Name |
Type I iodothyronine deiodinase |
| Enzyme 4 Synonyms |
- Type-I 5' deiodinase
- DIOI
- Type 1 DI
- 5DI
|
| Enzyme 4 Gene Name |
DIO1 |
| Enzyme 4 Protein Sequence |
>Type I iodothyronine deiodinase
MGLPQPGLWLKRLWVLLEVAVHVVVGKVLLILFPDRVKRNILAMGEKTGMTRNPHFSHDN
WIPTFFSTQYFWFVLKVRWQRLEDTTELGGLAPNCPVVRLSGQRCNIWEFMQGNRPLVLN
FGSCTCPSFMFKFDQFKRLIEDFSSIADFLVIYIEEAHASDGWAFKNNMDIRNHQNLQDR
LQAAHLLLARSPQCPVVVDTMQNQSSQLYAALPERLYIIQEGRILYKGKSGPWNYNPEEV
RAVLEKLHS
|
| Enzyme 4 Number of Residues |
249 |
| Enzyme 4 Molecular Weight |
28878 |
| Enzyme 4 Theoretical pI |
8.72 |
| Enzyme 4 GO Classification |
| Function |
- catalytic activity
- oxidoreductase activity
- thyroxine 5'-deiodinase activity
|
| Process |
| — |
| Component |
| — |
|
| Enzyme 4 General Function |
Not Available |
| Enzyme 4 Specific Function |
Responsible for the deiodination of T4 (3,5,3',5'- tetraiodothyronine) into T3 (3,5,3'-triiodothyronine) and of T3 into T2 (3,3'-diiodothyronine). Plays a role in providing a source of plasma T3 by deiodination of T4 in peripheral tissues such as liver and kidney |
| Enzyme 4 Pathways |
Not Available |
| Enzyme 4 Reactions |
- 3,5,3'-triiodo-L-thyronine + iodide + A + H+ = L-thyroxine + AH2
|
| Enzyme 4 Pfam Domain Function |
|
| Enzyme 4 Signals |
|
| Enzyme 4 Transmembrane Regions |
Not Available |
| Enzyme 4 Essentiality |
Not Available |
| Enzyme 4 GenBank ID Protein |
13195755  |
| Enzyme 4 UniProtKB/Swiss-Prot ID |
P49895  |
| Enzyme 4 UniProtKB/Swiss-Prot Entry Name |
IOD1_HUMAN  |
| Enzyme 4 PDB ID |
Not Available |
| Enzyme 4 Cellular Location |
Not Available |
| Enzyme 4 Gene Sequence |
>750 bp
ATGGGGCTGCCCCAGCCAGGGCTGTGGCTGAAGAGGCTCTGGGTGCTCTTGGAGGTGGCT
GTGCATGTGGTCGTGGGTAAAGTGCTTCTGATATTGTTTCCAGACAGAGTCAAGCGGAAC
ATCCTGGCCATGGGCGAGAAGACGGGTATGACCAGGAACCCCCATTTCAGCCACGACAAC
TGGATACCAACCTTTTTCAGCACCCAGTATTTCTGGTTCGTCTTGAAGGTCCGTTGGCAG
CGACTAGAGGACACGACTGAGCTAGGGGGTCTGGCCCCAAACTGCCCGGTGGTCCGCCTC
TCAGGACAGAGGTGCAACATTTGGGAGTTTATGCAAGGTAATAGGCCACTGGTGCTGAAT
TTTGGAAGTTGTACCTGACCTTCATTTATGTTCAAATTTGACCAGTTCAAGAGGCTTATT
GAAGACTTTAGTTCCATAGCAGATTTTCTTGTCATTTACATTGAAGAAGCACATGCATCA
GATGGCTGGGCTTTTAAGAACAACATGGACATCAGAAATCACCAGAACCTTCAGGATCGC
CTGCAGGCAGCCCATCTACTGCTGGCCAGGAGCCCCCAGTGCCCTGTGGTGGTGGACACC
ATGCAGAACCAGAGCAGCCAGCTCTACGCAGCACTGCCTGAGAGGCTCTACATAATCCAG
GAGGGCAGGATCCTCTACAAGGGTAAATCTGGCCCTTGGAACTACAACCCAGAGGAAGTT
CGTGCTGTTCTGGAAAAGCTCCACAGTTAA
|
| Enzyme 4 GenBank Gene ID |
S48220  |
| Enzyme 4 GeneCard ID |
DIO1  |
| Enzyme 4 GenAtlas ID |
DIO1  |
| Enzyme 4 HGNC ID |
HGNC:2883  |
| Enzyme 4 Chromosome Location |
1 |
| Enzyme 4 Locus |
1p33-p32 |
| Enzyme 4 SNPs |
SNPJam Report  |
| Enzyme 4 General References |
- Mandel SJ, Berry MJ, Kieffer JD, Harney JW, Warne RL, Larsen PR: Cloning and in vitro expression of the human selenoprotein, type I iodothyronine deiodinase. J Clin Endocrinol Metab. 1992 Oct;75(4):1133-9. [PubMed
]
- Toyoda N, Zavacki AM, Maia AL, Harney JW, Larsen PR: A novel retinoid X receptor-independent thyroid hormone response element is present in the human type 1 deiodinase gene. Mol Cell Biol. 1995 Sep;15(9):5100-12. [PubMed
]
|
| Enzyme 4 Metabolite References |
Not Available |
|
Enzyme 5
[top]
|
| Enzyme 5 ID |
6351 |
| Enzyme 5 Name |
Type II iodothyronine deiodinase |
| Enzyme 5 Synonyms |
- Type-II 5' deiodinase
- DIOII
- Type 2 DI
- 5DII
|
| Enzyme 5 Gene Name |
DIO2 |
| Enzyme 5 Protein Sequence |
>Type II iodothyronine deiodinase
MGILSVDLLITLQILPVFFSNCLFLALYDSVILLKHVVLLLSRSKSTRGEWRRMLTSEGL
RCVWKSFLLDAYKQVKLGEDAPNSSVVHVSSTEGGDNSGNGTQEKIAEGATCHLLDFASP
ERPLVVNFGSATCPPFTSQLPAFRKLVEEFSSVADFLLVYIDEAHPSDGWAIPGDSSLSF
EVKKHQNQEDRCAAAQQLLERFSLPPQCRVVADRMDNNANIAYGVAFERVCIVQRQKIAY
LGGKGPFSYNLQEVRHWLEKNFSKR
|
| Enzyme 5 Number of Residues |
265 |
| Enzyme 5 Molecular Weight |
29600 |
| Enzyme 5 Theoretical pI |
7.07 |
| Enzyme 5 GO Classification |
| Function |
- catalytic activity
- oxidoreductase activity
- thyroxine 5'-deiodinase activity
|
| Process |
| — |
| Component |
| — |
|
| Enzyme 5 General Function |
Not Available |
| Enzyme 5 Specific Function |
Responsible for the deiodination of T4 (3,5,3',5'- tetraiodothyronine) into T3 (3,5,3'-triiodothyronine). Essential for providing the brain with appropriate levels of T3 during the critical period of development |
| Enzyme 5 Pathways |
Not Available |
| Enzyme 5 Reactions |
- 3,5,3'-triiodo-L-thyronine + iodide + A + H+ = L-thyroxine + AH2
|
| Enzyme 5 Pfam Domain Function |
|
| Enzyme 5 Signals |
|
| Enzyme 5 Transmembrane Regions |
Not Available |
| Enzyme 5 Essentiality |
Not Available |
| Enzyme 5 GenBank ID Protein |
1518542  |
| Enzyme 5 UniProtKB/Swiss-Prot ID |
Q92813  |
| Enzyme 5 UniProtKB/Swiss-Prot Entry Name |
IOD2_HUMAN  |
| Enzyme 5 PDB ID |
Not Available |
| Enzyme 5 Cellular Location |
Not Available |
| Enzyme 5 Gene Sequence |
>822 bp
ATGGGCATCCTCAGCGTAGACTTGCTGATCACACTGCAAATTCTGCCAGTTTTTTTCTCC
AACTGCCTCTTCCTGGCTCTCTATGACTCGGTCATTCTGCTCAAGCACGTGGTGCTGCTG
TTGAGCCGCTCCAAGTCCACTCGCGGAGAGTGGCGGCGCATGCTGACCTCAGAGGGACTG
CGCTGCGTCTGGAAGAGCTTCCTCCTCGATGCCTACAAACAGGTGAAATTGGGTGAGGAT
GCCCCCAATTCCAGTGTGGTGCATGTCTCCAGTACAGAAGGAGGTGACAACAGTGGCAAT
GGTACCCAGGAGAAGATAGCTGAGGGAGCCACATGCCACCTTCTTGACTTTGCCAGCCCT
GAGCGCCCACTAGTGGTCAACTTTGGCTCAGCCACTTGACCTCCTTTCACGAGCCAGCTG
CCAGCCTTCCGCAAACTGGTGGAAGAGTTCTCCTCAGTGGCTGACTTCCTGCTGGTCTAC
ATTGATGAGGCTCATCCATCAGATGGCTGGGCGATACCGGGGGACTCCTCTTTGTCTTTT
GAGGTGAAGAAGCACCAGAACCAGGAAGATCGATGTGCAGCAGCCCAGCAGCTTCTGGAG
CGTTTCTCCTTGCCGCCCCAGTGCCGAGTTGTGGCTGACCGCATGGACAATAACGCCAAC
ATAGCTTACGGGGTAGCCTTTGAACGTGTGTGCATTGTGCAGAGACAGAAAATTGCTTAT
CTGGGAGGAAAGGGCCCCTTCTCCTACAACCTTCAAGAAGTCCGGCATTGGCTGGAGAAG
AATTTCAGCAAGAGATGAAAGAAAACTAGATTAGCTGGTTAA
|
| Enzyme 5 GenBank Gene ID |
U53506  |
| Enzyme 5 GeneCard ID |
DIO2  |
| Enzyme 5 GenAtlas ID |
DIO2  |
| Enzyme 5 HGNC ID |
HGNC:2884  |
| Enzyme 5 Chromosome Location |
14 |
| Enzyme 5 Locus |
14q24.2-q24.3 |
| Enzyme 5 SNPs |
SNPJam Report  |
| Enzyme 5 General References |
- Croteau W, Davey JC, Galton VA, St Germain DL: Cloning of the mammalian type II iodothyronine deiodinase. A selenoprotein differentially expressed and regulated in human and rat brain and other tissues. J Clin Invest. 1996 Jul 15;98(2):405-17. [PubMed
]
- Buettner C, Harney JW, Larsen PR: The 3'-untranslated region of human type 2 iodothyronine deiodinase mRNA contains a functional selenocysteine insertion sequence element. J Biol Chem. 1998 Dec 11;273(50):33374-8. [PubMed
]
|
| Enzyme 5 Metabolite References |
Not Available |
|
Enzyme 6
[top]
|
| Enzyme 6 ID |
7194 |
| Enzyme 6 Name |
Transthyretin precursor |
| Enzyme 6 Synonyms |
- Prealbumin
- TBPA
- TTR
- ATTR
|
| Enzyme 6 Gene Name |
TTR |
| Enzyme 6 Protein Sequence |
>Transthyretin precursor
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDT
WEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDS
GPRRYTIAALLSPYSYSTTAVVTNPKE
|
| Enzyme 6 Number of Residues |
147 |
| Enzyme 6 Molecular Weight |
15887 |
| Enzyme 6 Theoretical pI |
5.58 |
| Enzyme 6 GO Classification |
| Function |
- binding
- carrier activity
- steroid binding
- transporter activity
|
| Process |
- cellular physiological process
- physiological process
- transport
|
| Component |
| — |
|
| Enzyme 6 General Function |
Not Available |
| Enzyme 6 Specific Function |
Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain |
| Enzyme 6 Pathways |
Not Available |
| Enzyme 6 Reactions |
Not Available |
| Enzyme 6 Pfam Domain Function |
|
| Enzyme 6 Signals |
|
| Enzyme 6 Transmembrane Regions |
Not Available |
| Enzyme 6 Essentiality |
Not Available |
| Enzyme 6 GenBank ID Protein |
189582  |
| Enzyme 6 UniProtKB/Swiss-Prot ID |
P02766  |
| Enzyme 6 UniProtKB/Swiss-Prot Entry Name |
TTHY_HUMAN  |
| Enzyme 6 PDB ID |
1KED  |
| Enzyme 6 PDB File |
Show |
| Enzyme 6 3D Structure |
|
| Enzyme 6 Cellular Location |
Not Available |
| Enzyme 6 Gene Sequence |
>444 bp
ATGGCTTCTCATCGTCTGCTCCTCCTCTGCCTTGCTGGACTGGTATTTGTGTCTGAGGCT
GGCCCTACGGGCACCGGTGAATCCAAGTGTCCTCTGATGGTCAAAGTTCTAGATGCTGTC
CGAGGCAGTCCTGCCATCAATGTGGCCGTGCATGTGTTCAGAAAGGCTGCTGATGACACC
TGGGAGCCATTTGCCTCTGGGAAAACCAGTGAGTCTGGAGAGCTGCATGGGCTCACAACT
GAGGAGGAATTTGTAGAAGGGATATACAAAGTGGAAATAGACACCAAATCTTACTGGAAG
GCACTTGGCATCTCCCCATTCCATGAGCATGCAGAGGTGGTATTCACAGCCAACGACTCC
GGCCCCCGCCGCTACACCATTGCCGCCCTGCTGAGCCCCTACTCCTATTCCACCACGGCT
GTCGTCACCAATCCCAAGGAATGA
|
| Enzyme 6 GenBank Gene ID |
K02091  |
| Enzyme 6 GeneCard ID |
TTR  |
| Enzyme 6 GenAtlas ID |
TTR  |
| Enzyme 6 HGNC ID |
HGNC:12405  |
| Enzyme 6 Chromosome Location |
18 |
| Enzyme 6 Locus |
18q12.1 |
| Enzyme 6 SNPs |
SNPJam Report  |
| Enzyme 6 General References |
- Mita S, Maeda S, Shimada K, Araki S: Cloning and sequence analysis of cDNA for human prealbumin. Biochem Biophys Res Commun. 1984 Oct 30;124(2):558-64. [PubMed
]
- Wallace MR, Naylor SL, Kluve-Beckerman B, Long GL, McDonald L, Shows TB, Benson MD: Localization of the human prealbumin gene to chromosome 18. Biochem Biophys Res Commun. 1985 Jun 28;129(3):753-8. [PubMed
]
- Sasaki H, Yoshioka N, Takagi Y, Sakaki Y: Structure of the chromosomal gene for human serum prealbumin. Gene. 1985;37(1-3):191-7. [PubMed
]
- Tsuzuki T, Mita S, Maeda S, Araki S, Shimada K: Structure of the human prealbumin gene. J Biol Chem. 1985 Oct 5;260(22):12224-7. [PubMed
]
- Mita S, Maeda S, Shimada K, Araki S: Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy. J Biochem (Tokyo). 1986 Nov;100(5):1215-22. [PubMed
]
- Maeda S, Mita S, Araki S, Shimada K: Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy. Mol Biol Med. 1986 Aug;3(4):329-38. [PubMed
]
- Christmanson L, Betsholtz C, Gustavsson A, Johansson B, Sletten K, Westermark P: The transthyretin cDNA sequence is normal in transthyretin-derived senile systemic amyloidosis. FEBS Lett. 1991 Apr 9;281(1-2):177-80. [PubMed
]
- Gu JR, Jiang HQ, He LP, Li DZ, Zhou XM, Dai WL, Qian LF, Chen YQ, Schweinfest C, Papas T: Transthyretin (prealbumin) gene in human primary hepatic cancer. Sci China B. 1991 Nov;34(11):1312-8. [PubMed
]
- Kanda Y, Goodman DS, Canfield RE, Morgan FJ: The amino acid sequence of human plasma prealbumin. J Biol Chem. 1974 Nov 10;249(21):6796-805. [PubMed
]
- Pras M, Prelli F, Franklin EC, Frangione B: Primary structure of an amyloid prealbumin variant in familial polyneuropathy of Jewish origin. Proc Natl Acad Sci U S A. 1983 Jan;80(2):539-42. [PubMed
]
- Tawara S, Nakazato M, Kangawa K, Matsuo H, Araki S: Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun. 1983 Nov 15;116(3):880-8. [PubMed
]
- Dwulet FE, Benson MD: Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin. Proc Natl Acad Sci U S A. 1984 Feb;81(3):694-8. [PubMed
]
- Cornwell GG 3rd, Sletten K, Johansson B, Westermark P: Evidence that the amyloid fibril protein in senile systemic amyloidosis is derived from normal prealbumin. Biochem Biophys Res Commun. 1988 Jul 29;154(2):648-53. [PubMed
]
- Kametani F, Ikeda S, Yanagisawa N, Ishi T, Hanyu N: Characterization of a transthyretin-related amyloid fibril protein from cerebral amyloid angiopathy in type I familial amyloid polyneuropathy. J Neurol Sci. 1992 Apr;108(2):178-83. [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
]
- Harding J, Skare J, Skinner M: A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy. Biochim Biophys Acta. 1991 Oct 21;1097(3):183-6. [PubMed
]
- Skare J, Jones LA, Myles N, Kane K, Milunsky A, Cohen A, Skinner M: Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. Clin Genet. 1994 Jun;45(6):281-4. [PubMed
]
- Soprano DR, Herbert J, Soprano KJ, Schon EA, Goodman DS: Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues in the rat. J Biol Chem. 1985 Sep 25;260(21):11793-8. [PubMed
]
- Moses AC, Rosen HN, Moller DE, Tsuzaki S, Haddow JE, Lawlor J, Liepnieks JJ, Nichols WC, Benson MD: A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia. J Clin Invest. 1990 Dec;86(6):2025-33. [PubMed
]
- Gustavsson A, Jahr H, Tobiassen R, Jacobson DR, Sletten K, Westermark P: Amyloid fibril composition and transthyretin gene structure in senile systemic amyloidosis. Lab Invest. 1995 Nov;73(5):703-8. [PubMed
]
- Blake CC, Oatley SJ: Protein-DNA and protein-hormone interactions in prealbumin: a model of the thyroid hormone nuclear receptor? Nature. 1977 Jul 14;268(5616):115-20. [PubMed
]
- Blake CC, Geisow MJ, Oatley SJ, Rerat B, Rerat C: Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 A. J Mol Biol. 1978 May 25;121(3):339-56. [PubMed
]
- Blake CC, Geisow MJ, Swan ID, Rerat C, Rerat B: Strjcture of human plasma prealbumin at 2-5 A resolution. A preliminary report on the polypeptide chain conformation, quaternary structure and thyroxine binding. J Mol Biol. 1974 Sep 5;88(1):1-12. [PubMed
]
- Terry CJ, Damas AM, Oliveira P, Saraiva MJ, Alves IL, Costa PP, Matias PM, Sakaki Y, Blake CC: Structure of Met30 variant of transthyretin and its amyloidogenic implications. EMBO J. 1993 Feb;12(2):735-41. [PubMed
]
- Hamilton JA, Steinrauf LK, Braden BC, Liepnieks J, Benson MD, Holmgren G, Sandgren O, Steen L: The x-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val-30-->Met variant to 1.7-A resolution. J Biol Chem. 1993 Feb 5;268(4):2416-24. [PubMed
]
- Monaco HL, Rizzi M, Coda A: Structure of a complex of two plasma proteins: transthyretin and retinol-binding protein. Science. 1995 May 19;268(5213):1039-41. [PubMed
]
- Naylor HM, Newcomer ME: The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP. Biochemistry. 1999 Mar 2;38(9):2647-53. [PubMed
]
- Peterson SA, Klabunde T, Lashuel HA, Purkey H, Sacchettini JC, Kelly JW: Inhibiting transthyretin conformational changes that lead to amyloid fibril formation. Proc Natl Acad Sci U S A. 1998 Oct 27;95(22):12956-60. [PubMed
]
- Schormann N, Murrell JR, Benson MD: Tertiary structures of amyloidogenic and non-amyloidogenic transthyretin variants: new model for amyloid fibril formation. Amyloid. 1998 Sep;5(3):175-87. [PubMed
]
- Klabunde T, Petrassi HM, Oza VB, Raman P, Kelly JW, Sacchettini JC: Rational design of potent human transthyretin amyloid disease inhibitors. Nat Struct Biol. 2000 Apr;7(4):312-21. [PubMed
]
- Saraiva MJ: Transthyretin mutations in health and disease. Hum Mutat. 1995;5(3):191-6. [PubMed
]
- Nakazato M, Kangawa K, Minamino N, Tawara S, Matsuo H, Araki S: Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin. Biochem Biophys Res Commun. 1984 Sep 28;123(3):921-8. [PubMed
]
- Wallace MR, Dwulet FE, Conneally PM, Benson MD: Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. J Clin Invest. 1986 Jul;78(1):6-12. [PubMed
]
- Strahler JR, Rosenblum BB, Hanash SM: Identification and characterization of a human transthyretin variant. Biochem Biophys Res Commun. 1987 Oct 14;148(1):471-7. [PubMed
]
- Wallace MR, Dwulet FE, Williams EC, Conneally PM, Benson MD: Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. J Clin Invest. 1988 Jan;81(1):189-93. [PubMed
]
- Ueno S, Uemichi T, Yorifuji S, Tarui S: A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases. Biochem Biophys Res Commun. 1990 May 31;169(1):143-7. [PubMed
]
- Ueno S, Uemichi T, Takahashi N, Soga F, Yorifuji S, Tarui S: Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg). Biochem Biophys Res Commun. 1990 Jun 29;169(3):1117-21. [PubMed
]
- Harrison HH, Gordon ED, Nichols WC, Benson MD: Biochemical and clinical characterization of prealbuminCHICAGO: an apparently benign variant of serum prealbumin (transthyretin) discovered with high-resolution two-dimensional electrophoresis. Am J Med Genet. 1991 Jun 15;39(4):442-52. [PubMed
]
- Saeki Y, Ueno S, Yorifuji S, Sugiyama Y, Ide Y, Matsuzawa Y: New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis. Biochem Biophys Res Commun. 1991 Oct 15;180(1):380-5. [PubMed
]
- Skare JC, Milunsky JM, Milunsky A, Skare IB, Cohen AS, Skinner M: A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90. Clin Genet. 1991 Jan;39(1):6-12. [PubMed
]
- Ii S, Minnerath S, Ii K, Dyck PJ, Sommer SS: Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. Neurology. 1991 Jun;41(6):893-8. [PubMed
]
- Saraiva MJ, Almeida Mdo R, Sherman W, Gawinowicz M, Costa P, Costa PP, Goodman DS: A new transthyretin mutation associated with amyloid cardiomyopathy. Am J Hum Genet. 1992 May;50(5):1027-30. [PubMed
]
- Murakami T, Maeda S, Yi S, Ikegawa S, Kawashima E, Onodera S, Shimada K, Araki S: A novel transthyretin mutation associated with familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 1992 Jan 31;182(2):520-6. [PubMed
]
- Murakami T, Atsumi T, Maeda S, Tanase S, Ishikawa K, Mita S, Kumamoto T, Araki S, Ando M: A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 1992 Aug 31;187(1):397-403. [PubMed
]
- Nishi H, Kimura A, Harada H, Hayashi Y, Nakamura M, Sasazuki T: Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis. Biochem Biophys Res Commun. 1992 Aug 31;187(1):460-6. [PubMed
]
- Jones LA, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M: Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet. 1992 Feb;41(2):70-3. [PubMed
]
- Jacobson DR, McFarlin DE, Kane I, Buxbaum JN: Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. Hum Genet. 1992 May;89(3):353-6. [PubMed
]
- Almeida MR, Ferlini A, Forabosco A, Gawinowicz M, Costa PP, Salvi F, Plasmati R, Tassinari CA, Altland K, Saraiva MJ: Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. Hum Mutat. 1992;1(3):211-5. [PubMed
]
- Uemichi T, Murrell JR, Zeldenrust S, Benson MD: A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. J Med Genet. 1992 Dec;29(12):888-91. [PubMed
]
- Izumoto S, Younger D, Hays AP, Martone RL, Smith RT, Herbert J: Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70. Neurology. 1992 Nov;42(11):2094-102. [PubMed
]
- Shiomi K, Nakazato M, Matsukura S, Ohnishi A, Hatanaka H, Tsuji S, Murai Y, Kojima M, Kangawa K, Matsuo H: A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis. Biochem Biophys Res Commun. 1993 Aug 16;194(3):1090-6. [PubMed
]
- Hesse A, Altland K, Linke RP, Almeida MR, Saraiva MJ, Steinmetz A, Maisch B: Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. Br Heart J. 1993 Aug;70(2):111-5. [PubMed
]
- Almeida Mdo R, Lopez-Andreu F, Munar-Ques M, Costa PP, Saraiva MJ: Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy. Hum Mutat. 1993;2(5):420-1. [PubMed
]
- Benson MD 2nd, Turpin JC, Lucotte G, Zeldenrust S, LeChevalier B, Benson MD: A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family. J Med Genet. 1993 Feb;30(2):120-2. [PubMed
]
- Jacobson DR, Buxbaum JN: A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient "SKO" with familial amyloidotic polyneuropathy. Hum Mutat. 1994;3(3):254-60. [PubMed
]
- Jacobson DR, Gertz MA, Buxbaum JN: Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis. Hum Mutat. 1994;3(4):399-401. [PubMed
]
- Berni R, Malpeli G, Folli C, Murrell JR, Liepnieks JJ, Benson MD: The Ile-84-->Ser amino acid substitution in transthyretin interferes with the interaction with plasma retinol-binding protein. J Biol Chem. 1994 Sep 23;269(38):23395-8. [PubMed
]
- Uemichi T, Gertz MA, Benson MD: Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). J Med Genet. 1994 May;31(5):416-7. [PubMed
]
- Yasuda T, Sobue G, Doyu M, Nakazato M, Shiomi K, Yanagi T, Mitsuma T: Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly). J Neurol Sci. 1994 Jan;121(1):97-102. [PubMed
]
- Yamamoto K, Hsu SP, Yoshida K, Ikeda S, Nakazato M, Shiomi K, Cheng SY, Furihata K, Ueno I, Yanagisawa N: Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55-->Pro). Muscle Nerve. 1994 Jun;17(6):637-41. [PubMed
]
- Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M: Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant. Neurology. 1994 Feb;44(2):315-8. [PubMed
]
- Booth DR, Tan SY, Hawkins PN, Pepys MB, Frustaci A: A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. Circulation. 1995 Feb 15;91(4):962-7. [PubMed
]
- Vidal R, Garzuly F, Budka H, Lalowski M, Linke RP, Brittig F, Frangione B, Wisniewski T: Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G) Am J Pathol. 1996 Feb;148(2):361-6. [PubMed
]
- Jacobson DR, Pan T, Kyle RA, Buxbaum JN: Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis. Hum Mutat. 1997;9(1):83-5. [PubMed
]
- Nakamura M, Hamidi Asl K, Benson MD: A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy. Amyloid. 2000 Mar;7(1):46-50. [PubMed
]
- de Carvalho M, Moreira P, Evangelista T, Ducla-Soares JL, Bento M, Fernandes R, Saraiva MJ: New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy. Muscle Nerve. 2000 Jul;23(7):1016-21. [PubMed
]
- Blevins G, Macaulay R, Harder S, Fladeland D, Yamashita T, Yazaki M, Hamidi Asl K, Benson MD, Donat JR: Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. Neurology. 2003 May 27;60(10):1625-30. [PubMed
]
|
| Enzyme 6 Metabolite References |
Not Available |
|
Enzyme 7
[top]
|
| Enzyme 7 ID |
8393 |
| Enzyme 7 Name |
Thyroxine-binding globulin precursor |
| Enzyme 7 Synonyms |
- T4-binding globulin
- Serpin A7
|
| Enzyme 7 Gene Name |
SERPINA7 |
| Enzyme 7 Protein Sequence |
>Thyroxine-binding globulin precursor
MSPFLYLVLLVLGLHATIHCASPEGKVTACHSSQPNATLYKMSSINADFAFNLYRRFTVE
TPDKNIFFSPVSISAALVMLSFGACCSTQTEIVETLGFNLTDTPMVEIQHGFQHLICSLN
FPKKELELQIGNALFIGKHLKPLAKFLNDVKTLYETEVFSTDFSNISAAKQEINSHVEMQ
TKGKVVGLIQDLKPNTIMVLVNYIHFKAQWANPFDPSKTEDSSSFLIDKTTTVQVPMMHQ
MEQYYHLVDMELNCTVLQMDYSKNALALFVLPKEGQMESVEAAMSSKTLKKWNRLLQKGW
VDLFVPKFSISATYDLGATLLKMGIQHAYSENADFSGLTEDNGLKLSNAAHKAVLHIGEK
GTEAAAVPEVELSDQPENTFLHPIIQIDRSFMLLILERSTRSILFLGKVVNPTEA
|
| Enzyme 7 Number of Residues |
415 |
| Enzyme 7 Molecular Weight |
46325 |
| Enzyme 7 Theoretical pI |
6.27 |
| Enzyme 7 GO Classification |
| Function |
- endopeptidase inhibitor activity
- enzyme inhibitor activity
- enzyme regulator activity
- protease inhibitor activity
- serine-type endopeptidase inhibitor activity
|
| Process |
| — |
| Component |
| — |
|
| Enzyme 7 General Function |
Not Available |
| Enzyme 7 Specific Function |
Major thyroid hormone transport protein in serum |
| Enzyme 7 Pathways |
Not Available |
| Enzyme 7 Reactions |
Not Available |
| Enzyme 7 Pfam Domain Function |
|
| Enzyme 7 Signals |
|
| Enzyme 7 Transmembrane Regions |
Not Available |
| Enzyme 7 Essentiality |
Not Available |
| Enzyme 7 GenBank ID Protein |
338697  |
| Enzyme 7 UniProtKB/Swiss-Prot ID |
P05543  |
| Enzyme 7 UniProtKB/Swiss-Prot Entry Name |
THBG_HUMAN  |
| Enzyme 7 PDB ID |
Not Available |
| Enzyme 7 Cellular Location |
Not Available |
| Enzyme 7 Gene Sequence |
>1248 bp
ATGTCACCATTCCTGTACCTGGTTCTCTTGGTACTTGGGCTTCATGCTACAATCCACTGT
GCATCACCTGAAGGCAAAGTAACAGCCTGCCATTCATCCCAACCAAATGCCACTCTCTAC
AAGATGTCATCCATTAATGCTGACTTTGCATTCAATCTGTACCGGAGGTTCACTGTGGAG
ACCCCAGATAAGAACATCTTCTTTTCCCCTGTGAGCATTTCTGCAGCTTTGGTTATGCTT
TCCTTTGGGGCCTGCTGCAGCACCCAAACTGAGATTGTGGAGACCTTGGGGTTCAACCTC
ACAGACACTCCAATGGTAGAGATCCAGCATGGCTTCCAGCATCTGATCTGTTCACTGAAT
TTTCCAAAGAAGGAACTGGAATTGCAGATAGGAAATGCCCTCTTCATTGGCAAGCATCTG
AAACCACTGGCAAAGTTCTTGAATGATGTCAAGACCCTCTATGAGACTGAAGTCTTTTCT
ACCGACTTCTCCAACATTTCTGCAGCCAAGCAGGAGATTAACAGTCATGTGGAGATGCAA
ACCAAAGGGAAAGTTGTGGGTCTAATTCAAGACCTCAAGCCAAACACCACTATGGTCTTA
GTGAACTATATTCACTTTAAAGCCCAGTGGGCAAATCCTTTTGATCCATCCAAGACAGAA
GACAGTTCCAGCTTCTTAATAGACAAGACCACCACTGTTCAAGTGCCCATGATGCACCAG
ATGGAACAATACTATCACCTAGTGGATATGGAATTGAACTGCACAGTTCTGCAAATGGAC
TACAGCAAGAATGCTCTGGCACTCTTTGTTCTTCCCAAGGAGGGACAGATGGAGTCAGTG
GAAGCTGCCATGTCATCTAAAACACTGAAGAAGTGGAACCGCTTACTACAGAAGGGATGG
GTTGACTTGTTTGTTCCAAAGTTTTCCATTTCTGCCACATATGACCTTGGAGCCACACTT
TTGAAGATGGGCATTCAGCATGCCTATTCTGAAAATGCTGATTTTTCTGGACTCACAGAG
GACAATGGTCTGAAACTTTCCAATGCTGCCCATAAGGCTGTGCTGCACATTGGTGAAAAG
GGAACTGAAGCTGCAGCTGTCCCTGAAGTTGAACTTTCGGATCAGCCTGAAAACACTTTC
CTACACCCTATTATCCAAATTGATAGATCTTTCATGTTGTTGATTTTGGAGAGAAGCACA
AGGAGTATTCTCTTTCTAGGGAAAGTTGTGAACCCAACGGAAGCGTAG
|
| Enzyme 7 GenBank Gene ID |
M14091  |
| Enzyme 7 GeneCard ID |
SERPINA7  |
| Enzyme 7 GenAtlas ID |
SERPINA7  |
| Enzyme 7 HGNC ID |
HGNC:11583  |
| Enzyme 7 Chromosome Location |
X |
| Enzyme 7 Locus |
Xq22.2 |
| Enzyme 7 SNPs |
SNPJam Report  |
| Enzyme 7 General References |
- Flink IL, Bailey TJ, Gustafson TA, Markham BE, Morkin E: Complete amino acid sequence of human thyroxine-binding globulin deduced from cloned DNA: close homology to the serine antiproteases. Proc Natl Acad Sci U S A. 1986 Oct;83(20):7708-12. [PubMed
]
- Akbari MT, Kapadi A, Farmer MJ, Fitch NJ, McCann KP, Kordestani S, Flink IL, Sheppard MC, Ramsden DB: The structure of the human thyroxine binding globulin (TBG) gene. Biochim Biophys Acta. 1993 Dec 14;1216(3):446-54. [PubMed
]
- Hayashi Y, Mori Y, Janssen OE, Sunthornthepvarakul T, Weiss RE, Takeda K, Weinberg M, Seo H, Bell GI, Refetoff S: Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation. Mol Endocrinol. 1993 Aug;7(8):1049-60. [PubMed
]
- Cheng SY: Partial amino acid sequence of human thyroxine-binding globulin. Further evidence for a single polypeptide chain. Biochem Biophys Res Commun. 1977 Dec 21;79(4):1212-8. [PubMed
]
- Mori Y, Takeda K, Charbonneau M, Refetoff S: Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect. J Clin Endocrinol Metab. 1990 Mar;70(3):804-9. [PubMed
]
- Mori Y, Seino S, Takeda K, Flink IL, Murata Y, Bell GI, Refetoff S: A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule. Mol Endocrinol. 1989 Mar;3(3):575-9. [PubMed
]
- Shirotani T, Kishikawa H, Wake N, Miyamura N, Hashimoto Y, Motoyoshi S, Yamaguchi K, Shichiri M: Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family. Endocrinol Jpn. 1992 Dec;39(6):577-84. [PubMed
]
- Janssen OE, Takeda K, Refetoff S: Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency. Hum Genet. 1991 Jun;87(2):119-22. [PubMed
]
- Bertenshaw R, Takeda K, Refetoff S: Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions. Am J Hum Genet. 1991 Apr;48(4):741-4. [PubMed
]
- Bertenshaw R, Sarne D, Tornari J, Weinberg M, Refetoff S: Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions. Biochim Biophys Acta. 1992 Aug 25;1139(4):307-10. [PubMed
]
- Takeda K, Mori Y, Sobieszczyk S, Seo H, Dick M, Watson F, Flink IL, Seino S, Bell GI, Refetoff S: Sequence of the variant thyroxine-binding globulin of Australian aborigines. Only one of two amino acid replacements is responsible for its altered properties. J Clin Invest. 1989 Apr;83(4):1344-8. [PubMed
]
- Waltz MR, Pullman TN, Takeda K, Sobieszczyk P, Refetoff S: Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks. J Endocrinol Invest. 1990 Apr;13(4):343-9. [PubMed
]
|
| Enzyme 7 Metabolite References |
Not Available |
|
Enzyme 8
[top]
|
| Enzyme 8 ID |
8627 |
| Enzyme 8 Name |
4F2 cell-surface antigen heavy chain |
| Enzyme 8 Synonyms |
- 4F2hc
- Lymphocyte activation antigen 4F2 large subunit
- 4F2 heavy chain antigen
- CD98 antigen
|
| Enzyme 8 Gene Name |
SLC3A2 |
| Enzyme 8 Protein Sequence |
>4F2 cell-surface antigen heavy chain
MSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKF
TGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHT
GALYRIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQID
PNFGSKEDFDSLLQSAKKKSIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAG
VDGFQVRDIENLKDASSFLAEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLT
SSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLP
GTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLS
LFRRLSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQAS
DLPASASLPAKADLLLSTQPGREEGSPLELERLKLEPHEGLLLRFPYAA
|
| Enzyme 8 Number of Residues |
529 |
| Enzyme 8 Molecular Weight |
57945 |
| Enzyme 8 Theoretical pI |
4.99 |
| Enzyme 8 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 8 General Function |
Carbohydrate transport and metabolism |
| Enzyme 8 Specific Function |
Involved in sodium-independent, high-affinity transport of large neutral amino acids. Required for normal and neoplastic cell growth |
| 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 |
182865  |
| Enzyme 8 UniProtKB/Swiss-Prot ID |
P08195  |
| Enzyme 8 UniProtKB/Swiss-Prot Entry Name |
4F2_HUMAN  |
| Enzyme 8 PDB ID |
Not Available |
| Enzyme 8 Cellular Location |
Not Available |
| Enzyme 8 Gene Sequence |
>1590 bp
ATGAGCCAGGACACCGAGGTGGATATGAAGGAGGTGGAGCTGAATGAGTTAGAGCCCGAG
AAGCAGCCGATGAACGCGGCGTCTGGGGCGGCCATGTCCCTGGCGGGAGCCGAGAAGAAT
GGTCTGGTGAAGATCAAGGTGGCGGAAGACGAGGCGGAGGCGGCAGCCGCGGCTAAGTTC
ACGGGCCTGTCCAAGGAGGAGCTGCTGAAGGTGGCAGGCAGCCCCGGCTGGGTACGCACC
CGCTGGGCACTGCTGCTGCTCTTCTGGCTCGGCTGGCTCGGCATGCTTGCTGGTGCCGTG
GTCATAATCGTGCGAGCGCCGCGTTGTCGCGAGCTACCGGCGCAGAAGTGGTGGCACACG
GGCGCCCTCTACCGCATCGGCGACCTTCAGGCCTTCCAGGGCCACGGCGCGGGCAACCTG
GCGGGTCTGAAGGGGCGTCTCGATTACCTGAGCTCTCTGAAGGTGAAGGGCCTTGTGCTG
GGTCCAATTCACAAGAACCAGAAGGATGATGTCGCTCAGACTGACTTGCTGCAGATCGAC
CCCAATTTTGGCTCCAAGGAAGATTTTGACAGTCTCTTGCAATCGGCTAAAAAAAAGAGC
ATCCGTGTCATTCTGGACCTTACTCCCAACTACCGGGGTGAGAACTCGTGGTTCTCCACT
CAGGTTGACACTGTGGCCACCAAGGTGAAGGATGCTCTGGAGTTTTGGCTGCAAGCTGGC
GTGGATGGGTTCCAGGTTCGGGACATAGAGAATCTGAAGGATGCATCCTCATTCTTGGCT
GAGTGGCAAAATATCACCAAGGGCTTCAGTGAAGACAGGCTCTTGATTGCGGGGACTAAC
TCCTCCGACCTTCAGCAGATCCTGAGCCTACTCGAATCCAACAAAGACTTGCTGTTGACT
AGCTCATACCTGTCTGATTCTGGTTCTACTGGGGAGCATACAAAATCCCTAGTCACACAG
TATTTGAATGCCACTGGCAATCGCTGGTGCAGCTGGAGTTTGTCTCAGGCAAGGCTCCTG
ACTTCCTTCTTGCCGGCTCAACTTCTCCGACTCTACCAGCTGATGCTCTTCACCCTGCCA
GGGACCCCTGTTTTCAGCTACGGGGATGAGATTGGCCTGGATGCAGCTGCCCTTCCTGGA
CAGCCTATGGAGGCTCCAGTCATGCTGTGGGATGAGTCCAGCTTCCCTGACATCCCAGGG
GCTGTAAGTGCCAACATGACTGTGAAGGGCCAGAGTGAAGACCCTGGCTCCCTCCTTTCC
TTGTTCCGGCGGCTGAGTGACCAGCGGAGTAAGGAGCGCTCCCTACTGCATGGGGACTTC
CACGCGTTCTCCGCTGGGCCTGGACTCTTCTCCTATATCCGCCACTGGGACCAGAATGAG
CGTTTTCTGGTAGTGCTTAACTTTGGGGATGTGGGCCTCTCGGCTGGACTGCAGGCCTCC
GACCTGCCTGCCAGCGCCAGCCTCCCAGCCAAGGCTGACCTCCTGCTCAGCACCCAGCCA
GGCCGTGAGGAGGGCTCCCCTCTTGAGCTGGAACGCCTGAAACTGGAGCCTCACGAAGGG
CTGCTGCTCCGCTTCCCCTACGCGGCCTGA
|
| Enzyme 8 GenBank Gene ID |
J02939  |
| Enzyme 8 GeneCard ID |
SLC3A2  |
| Enzyme 8 GenAtlas ID |
SLC3A2  |
| Enzyme 8 HGNC ID |
HGNC:11026  |
| Enzyme 8 Chromosome Location |
11 |
| Enzyme 8 Locus |
11q13 |
| Enzyme 8 SNPs |
SNPJam Report  |
| Enzyme 8 General References |
- Quackenbush E, Clabby M, Gottesdiener KM, Barbosa J, Jones NH, Strominger JL, Speck S, Leiden JM: Molecular cloning of complementary DNAs encoding the heavy chain of the human 4F2 cell-surface antigen: a type II membrane glycoprotein involved in normal and neoplastic cell growth. Proc Natl Acad Sci U S A. 1987 Sep;84(18):6526-30. [PubMed
]
- Teixeira S, Di Grandi S, Kuhn LC: Primary structure of the human 4F2 antigen heavy chain predicts a transmembrane protein with a cytoplasmic NH2 terminus. J Biol Chem. 1987 Jul 15;262(20):9574-80. [PubMed
]
- Lumadue JA, Glick AB, Ruddle FH: Cloning, sequence analysis, and expression of the large subunit of the human lymphocyte activation antigen 4F2. Proc Natl Acad Sci U S A. 1987 Dec;84(24):9204-8. [PubMed
]
- Gottesdiener KM, Karpinski BA, Lindsten T, Strominger JL, Jones NH, Thompson CB, Leiden JM: Isolation and structural characterization of the human 4F2 heavy-chain gene, an inducible gene involved in T-lymphocyte activation. Mol Cell Biol. 1988 Sep;8(9):3809-19. [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
]
- Harris RA, Yang A, Stein RC, Lucy K, Brusten L, Herath A, Parekh R, Waterfield MD, O'Hare MJ, Neville MA, Page MJ, Zvelebil MJ: Cluster analysis of an extensive human breast cancer cell line protein expression map database. Proteomics. 2002 Feb;2(2):212-23. [PubMed
]
- He X, Di Y, Li J, Xie Y, Tang Y, Zhang F, Wei L, Zhang Y, Qin W, Huo K, Li Y, Wan D, Gu J: Molecular cloning and characterization of CT120, a novel membrane-associated gene involved in amino acid transport and glutathione metabolism. Biochem Biophys Res Commun. 2002 Sep 27;297(3):528-36. [PubMed
]
|
| Enzyme 8 Metabolite References |
Not Available |
|
Enzyme 9
[top]
|
| Enzyme 9 ID |
15249 |
| Enzyme 9 Name |
Type III iodothyronine deiodinase |
| Enzyme 9 Synonyms |
- Type-III 5'-deiodinase
- Type 3 DI
- DIOIII
- 5DIII
|
| Enzyme 9 Gene Name |
DIO3 |
| Enzyme 9 Protein Sequence |
>Type III iodothyronine deiodinase
MLRSLLLHSLRLCAQTASCLVLFPRFLGTAFMLWLLDFLCIRKHFLGRRRRGQPEPEVEL
NSEGEEVPPDDPPICVSDDNRLCTLASLKAVWHGQKLDFFKQAHEGGPAPNSEVVLPDGF
QSQHILDYAQGNRPLVLNFGSCTUPPFMARMSAFQRLVTKYQRDVDFLIIYIEEAHPSDG
WVTTDSPYIIPQHRSLEDRVSAARVLQQGAPGCALVLDTMANSSSSAYGAYFERLYVIQS
GTIMYQGGRGPDGYQVSELRTWLERYDEQLHGARPRRV
|
| Enzyme 9 Number of Residues |
278 |
| Enzyme 9 Molecular Weight |
31451 |
| Enzyme 9 Theoretical pI |
6.71 |
| Enzyme 9 GO Classification |
| Function |
- catalytic activity
- oxidoreductase activity
- thyroxine 5'-deiodinase activity
|
| Process |
| — |
| Component |
| — |
|
| Enzyme 9 General Function |
Not Available |
| Enzyme 9 Specific Function |
Responsible for the deiodination of T4 (3,5,3',5'- tetraiodothyronine) into RT3 (3,3',5'-triiodothyronine) and of T3 (3,5,3'-triiodothyronine) into T2 (3,3'-diiodothyronine). RT3 and T2 are inactive metabolites. May play a role in preventing premature exposure of developing fetal tissues to adult levels of thyroid hormones. Can regulate circulating fetal thyroid hormone concentrations throughout gestation. Essential role for regulation of thyroid hormone inactivation during embryological development |
| Enzyme 9 Pathways |
Not Available |
| Enzyme 9 Reactions |
Not Available |
| Enzyme 9 Pfam Domain Function |
|
| Enzyme 9 Signals |
|
| Enzyme 9 Transmembrane Regions |
|
| Enzyme 9 Essentiality |
Not Available |
| Enzyme 9 GenBank ID Protein |
13242866  |
| Enzyme 9 UniProtKB/Swiss-Prot ID |
P55073  |
| Enzyme 9 UniProtKB/Swiss-Prot Entry Name |
IOD3_HUMAN  |
| Enzyme 9 PDB ID |
Not Available |
| Enzyme 9 Cellular Location |
Not Available |
| Enzyme 9 Gene Sequence |
>837 bp
ATGCTCCACTCCCTGCTGCTTCACTCCTTGAGGCTCTGCGCCCAGACCGCCTCGTGCCTC
GTGCTCTTCCCGCGCTTCCTCGGCACGGCCTTCATGCTCTGGCTTCTCGATTTCTTGTGT
ATCCGCAAGCATTTCCTGGGCCGCCGCCGCCGGGGCAAGCCCGAGCCCGAAGTGGAGCTC
AACAGTGAAGGCGAGGAGGTGCCTCCCGATGACCCGCCCATCTGCGTGTCCGACGACAAC
CGCCTGTGCACCCTGGCGTCGCTCAAGGCGGTGTGGCATGGCCAGAAGTTGGATTTCTTC
AAGCAGGCGCACGAGGGCGGTCCGGCGCCCAACTCCGAGGTGGTTCTGCCCGACGGCTTC
CAGAGCCAGCACATCCTCGACTACGCGCAAGGGAACCGCCCGCTGGTTCTCAATTTCGGC
AGCTGCACCTGACCACCGTTCATGGCGCGCATGAGCGCCTTCCAGCGCCTGGTCACTAAG
TACCAGCGCGACGTCGACTTCCTCATCATCTACATCGAGGAAGCGCACCCCTCCGACGGC
TGGGTCACCACGGACTCTCCCTACATCATCCCACAGCACCGGAGCCTGGAGGACCGGGTC
AGCGCAGCGAGGGTACTGCAGCAAGGTGCACCCGGCTGCGCTCTGGTCCTCGACACCATG
GCCAACTCCAGCAGCTCGGCCTATGGCGCCTACTTCGAGCGTCTCTATGTCATCCAGAGT
GGCACTATTATGTACCAGGGCGGCCGTGGCCCCGACGGCTACCAGGTCTCTGAGCTGCGC
ACTTGGTTGGAACGCTATGATGAGCAACTGCACGGCGCTCGGCCCCGGAGGGTGTAA
|
| Enzyme 9 GenBank Gene ID |
S79854  |
| Enzyme 9 GeneCard ID |
P55073  |
| Enzyme 9 GenAtlas ID |
DIO3  |
| Enzyme 9 HGNC ID |
HGNC:2885  |
| Enzyme 9 Chromosome Location |
14 |
| Enzyme 9 Locus |
14q32 |
| Enzyme 9 SNPs |
SNPJam Report  |
| Enzyme 9 General References |
- Salvatore D, Low SC, Berry M, Maia AL, Harney JW, Croteau W, St Germain DL, Larsen PR: Type 3 lodothyronine deiodinase: cloning, in vitro expression, and functional analysis of the placental selenoenzyme. J Clin Invest. 1995 Nov;96(5):2421-30. [PubMed
]
|
| Enzyme 9 Metabolite References |
Not Available |