| Version |
2.5 |
| Creation Date |
2005-11-16 15:48:42 |
| Update Date |
2009-05-29 15:46:35 |
| Accession Number |
HMDB00127 |
| Secondary Accession Numbers |
Not Available |
| Common Name |
D-Glucuronic acid |
| Description |
Glucuronic acid is a carboxylic acid that has the structure of a glucose molecule that has had its sixth carbon atom (of six total) oxidized. The salts of glucuronic acid are known as glucuronates. Glucuronic acid is highly soluble in water. In the animal body, glucuronic acid is often linked to poisonous substances to allow for subsequent elimination, and to hormones to allow for easier transport. These linkages involve O-glycosidic bonds. The process is known as glucuronidation, and the resulting substances are known as glucuronides (or glucuronosides). Glucuronidation uses UDP-glucuronic acid (glucuronic acid linked via a glycosidic bond to uridine diphosphate) as an intermediate. UDP-glucuronic acid is formed in the liver of all animals. |
| Synonyms |
- D-(+)-glucuronate
- D-(+)-glucuronic acid
- D-glucuronate
- GCU
- Glucosiduronate
- Glucosiduronic acid
- Glucuronate
- Glucuronic acid
- alpha-D-glucopyranuronic acid
- alpha-D-glucuronic acid
- delta-(+)-glucuronate
- delta-(+)-glucuronic acid
- delta-glucuronate
- alpha-delta-glucopyranuronic acid
- alpha-delta-glucuronic acid
|
| Chemical IUPAC Name |
(2S,3S,4S,5R,6S)-3,4,5,6-tetrahydroxyoxane-2-carboxylic acid |
| Chemical Formula |
C6H10O7 |
| Chemical Structure |
 |
| Chemical Taxonomy |
| Kingdom |
|
| Super Class |
- Carbohydrates and Carbohydrate conjugates
|
| Class |
|
| Sub Class |
|
| Family |
|
| Species |
- hemiacetal
- secondary alcohol
- 1,2-diol
- carboxylic acid
- heterocyclic compound
|
| Biofunction |
- Component of Chondroitin / Heparan sulfate biosynthesis
- Component of Inositol phosphate metabolism
- Component of Porphyrin and chlorophyll metabolism
- Component of Starch and sucrose metabolism
|
| Application |
| — |
| Source |
|
|
| Average Molecular Weight |
194.139 |
| Monoisotopic Molecular Weight |
194.042648 |
| Isomeric SMILES |
O[C@H]1O[C@@H]([C@@H](O)[C@H](O)[C@H]1O)C(O)=O |
| Canonical SMILES |
OC1OC(C(O)C(O)C1O)C(O)=O |
| KEGG Compound ID |
C00191  |
| BioCyc ID |
GLUCURONATE  |
| BiGG ID |
34196  |
| Wikipedia Link |
GCU  |
| NuGOwiki Link |
HMDB00127  |
| Metagene Link |
HMDB00127  |
| METLIN ID |
161  |
| PubChem Compound |
444791  |
| PubChem Substance |
10299584  |
| ChEBI ID |
35182; 42717  |
| CAS Registry Number |
6556-12-3 |
| InChI Identifier |
InChI=1/C6H10O7/c7-1-2(8)4(5(10)11)13-6(12)3(1)9/h1-4,6-9,12H,(H,10,11)/t1-,2-,3+,4-,6-/m0/s1 |
| Synthesis Reference |
Hamayasu, Kenichi; Tadokoro, Hiroki; Kishino, Eriko; Ito, Tetsuya; Fujita, Koki; Hara, Kozo. Preparation of glucuronic acid and/or glucuronolactone from sucrose. PCT Int. Appl. (2006), 21pp. |
| Melting Point (Experimental) |
143-144 oC |
| Experimental Water Solubility |
485 mg/mL [HMP experimental]
Source: PhysProp
|
| Predicted Water Solubility |
1000 mg/mL at 25 oC [MEYLAN,WM et al. (1996)]; 295.0 mg/mL [Predicted by ALOGPS]
Calculated using ALOGPS
|
| Physiological Charge |
-1 |
| State |
Solid |
| Experimental LogP/Hydrophobicity |
-2.57 [HANSCH,C ET AL. (1995)]
Source: PhysProp
|
| Predicted LogP/Hydrophobicity |
-2 [Predicted by PubChem via XLOGP]; -2.30 [Predicted by ALOGPS]
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 (Varian) Show Experimental Conditions  |
| Experimental 13C NMR Spectrum |
Download Spectrum Download FID (Bruker) Show Experimental Conditions  |
| 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 |
- Cytoplasm (Predicted from LogP)
- endoplasmic reticulum
- lysosome
|
| Biofluid Location |
|
| Tissue Location |
| Tissue |
References |
| Liver |
— |
|
| Concentrations (Normal) |
| Biofluid |
Blood |
| Value |
165.0 +/- 32.0 uM |
| Age |
Adult:>18 yrs old |
| Sex |
Male |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 165-177. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp., Basel, Switzerland c1981-1992.
|
| Biofluid |
Blood |
| Value |
165.0 +/- 23.0 uM |
| Age |
Adult:>18 yrs old |
| Sex |
Female |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 165-177. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp., Basel, Switzerland c1981-1992.
|
| Biofluid |
Urine |
| Value |
33.82 +/- 20.95 umol/mmol creatinine |
| Age |
Infant:0-1 yr old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Shoemaker JD, Elliott WH: Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease. J Chromatogr. 1991 Jan 2;562(1-2):125-38. [PubMed
]
|
| Biofluid |
Urine |
| Value |
5.9 umol/mmol creatinine |
| Age |
Newborn:0-30 days old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Karasawa E: [Supplementary findings on urinary glucuronic acid excretion in pediatrics. I. Total glucuronic acid in 24-hour urine of normal infants determined by the modified Fishman's method with NaBH4] Nippon Shonika Gakkai Zasshi. 1968 Aug 1;72(8):1122-7. [PubMed
]
|
| Biofluid |
Urine |
| Value |
55.8 umol/mmol creatinine |
| Age |
Adult:>18 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Murano PS, Robichaud VY, Webb RE: Urinary excretion of sulfate and glucuronate conjugates in a free living population of adult males. Bull Environ Contam Toxicol. 1989 Jul;43(1):13-6. [PubMed
]
|
| Biofluid |
Urine |
| Value |
30.5 umol/mmol creatinine |
| Age |
Infant:0-1 yr old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Karasawa E: [Supplementary findings on urinary glucuronic acid excretion in pediatrics. I. Total glucuronic acid in 24-hour urine of normal infants determined by the modified Fishman's method with NaBH4] Nippon Shonika Gakkai Zasshi. 1968 Aug 1;72(8):1122-7. [PubMed
]
|
| Biofluid |
Urine |
| Value |
144.7 +/- 27.0 umol/mmol creatinine |
| Age |
Adult:>18 yrs old |
| Sex |
Male |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 130. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
|
| Biofluid |
Urine |
| Value |
125.0 +/- 30.0 umol/mmol creatinine |
| Age |
Adult:>18 yrs old |
| Sex |
Female |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 130. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
|
| Biofluid |
Urine |
| Value |
3.0 (1.38-5.00) umol/mmol creatinine |
| Age |
Children:1-13 yrs old |
| Sex |
Both |
| Patient information |
Normal |
| Comments |
Not Available |
| References |
- Geigy Scientific Tables, 8th Rev edition, pp. 130. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
|
|
| Concentrations (Abnormal) |
Not Available |
| Associated Disorders |
Not Available |
| OMIM ID |
Not Available |
| Pathways |
|
| General References |
- Jowett TP, Slater JD: A radioimmunoassay for the measurement of tetrahydroaldosterone 3-glucosiduronic acid in human plasma. Clin Chim Acta. 1981 Jan 22;109(2):133-44. [PubMed
]
- Schmitt G, Aderjan R, Keller T, Wu M: Ethyl glucuronide: an unusual ethanol metabolite in humans. Synthesis, analytical data, and determination in serum and urine. J Anal Toxicol. 1995 Mar-Apr;19(2):91-4. [PubMed
]
- Karasawa E: [Supplementary findings on urinary glucuronic acid excretion in pediatrics. I. Total glucuronic acid in 24-hour urine of normal infants determined by the modified Fishman's method with NaBH4] Nippon Shonika Gakkai Zasshi. 1968 Aug 1;72(8):1122-7. [PubMed
]
- Carpenter PC, Mattox VR: Isolation, determination of structure and synthesis of the acid-labile conjugate of aldosterone. Biochem J. 1976 Jul 1;157(1):1-14. [PubMed
]
- Raju U, Sklarew RJ, Post J, Levitz M: Steroid metabolism in human breast cancer cell lines. Steroids. 1978 Dec;32(5):669-80. [PubMed
]
- Stearns RA, Miller RR, Doss GA, Chakravarty PK, Rosegay A, Gatto GJ, Chiu SH: The metabolism of DuP 753, a nonpeptide angiotensin II receptor antagonist, by rat, monkey, and human liver slices. Drug Metab Dispos. 1992 Mar-Apr;20(2):281-7. [PubMed
]
- Little JM, St Pyrek J, Lester R: Hepatic metabolism of 3 alpha-hydroxy-5 beta-etianic acid (3 alpha-hydroxy-5 beta-androstan-17 beta-carboxylic acid) in the adult rat. J Clin Invest. 1983 Jan;71(1):73-80. [PubMed
]
- Shoemaker JD, Elliott WH: Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease. J Chromatogr. 1991 Jan 2;562(1-2):125-38. [PubMed
]
- Pfeiffer E, Graf E, Gerstner S, Metzler M: Stimulation of estradiol glucuronidation: a protective mechanism against estradiol-mediated carcinogenesis? Mol Nutr Food Res. 2006 Apr;50(4-5):385-9. [PubMed
]
- McDonagh AF, Palma LA, Lauff JJ, Wu TW: Origin of mammalian biliprotein and rearrangement of bilirubin glucuronides in vivo in the rat. J Clin Invest. 1984 Sep;74(3):763-70. [PubMed
]
- Murano PS, Robichaud VY, Webb RE: Urinary excretion of sulfate and glucuronate conjugates in a free living population of adult males. Bull Environ Contam Toxicol. 1989 Jul;43(1):13-6. [PubMed
]
- Nishida T, Gatmaitan Z, Roy-Chowdhry J, Arias IM: Two distinct mechanisms for bilirubin glucuronide transport by rat bile canalicular membrane vesicles. Demonstration of defective ATP-dependent transport in rats (TR-) with inherited conjugated hyperbilirubinemia. J Clin Invest. 1992 Nov;90(5):2130-5. [PubMed
]
- Wikipedia

|
| Metabolic Enzymes |
- Beta-glucuronidase precursor
- MIOX protein
- Dermatan-sulfate epimerase
|
|
Enzyme 1
[top]
|
| Enzyme 1 ID |
6120 |
| Enzyme 1 Name |
Beta-glucuronidase precursor |
| Enzyme 1 Synonyms |
- Beta-G1
|
| Enzyme 1 Gene Name |
GUSB |
| Enzyme 1 Protein Sequence |
>Beta-glucuronidase precursor
MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFE
EQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVV
LRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVGPLPSRLRITIAINNTLTPTT
LPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQD
SGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYL
YSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKG
FDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNN
VSLHHHMQVMEEVVRRDKNHPAVVMWSVANEPASHLESAGYYLKMVIAHTKSLDPSRPVT
FVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSE
YGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTR
VLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT
|
| Enzyme 1 Number of Residues |
651 |
| Enzyme 1 Molecular Weight |
74733 |
| Enzyme 1 Theoretical pI |
7.02 |
| Enzyme 1 GO Classification |
| Function |
- 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 1 General Function |
Carbohydrate transport and metabolism |
| Enzyme 1 Specific Function |
Plays an important role in the degradation of dermatan and keratan sulfates |
| Enzyme 1 Pathways |
|
| Enzyme 1 Reactions |
- a beta-D-glucuronoside + H2O = D-glucuronate + an alcohol
|
| Enzyme 1 Pfam Domain Function |
|
| Enzyme 1 Signals |
|
| Enzyme 1 Transmembrane Regions |
Not Available |
| Enzyme 1 Essentiality |
Not Available |
| Enzyme 1 GenBank ID Protein |
183233  |
| Enzyme 1 UniProtKB/Swiss-Prot ID |
P08236  |
| Enzyme 1 UniProtKB/Swiss-Prot Entry Name |
BGLR_HUMAN  |
| Enzyme 1 PDB ID |
1BHG  |
| Enzyme 1 PDB File |
Show |
| Enzyme 1 3D Structure |
|
| Enzyme 1 Cellular Location |
Not Available |
| Enzyme 1 Gene Sequence |
>1956 bp
ATGGCCCGGGGGTCGGCGGTTGCCTGGGCGGCGCTCGGGCCGTTGTTGTGGGGCTGCGCG
CTGGGGCTGCAGGGCGGGATGCTGTACCCCCAGGAGAGCCCGTCGCGGGAGTGCAAGGAG
CTGGACGGCCTCTGGAGCTTCCGCGCCGACTTCTCTGACAACCGACGCCGGGGCTTCGAG
GAGCAGTGGTACCGGCGGCCGCTGTGGGAGTCAGGCCCCACCGTGGACATGCCAGTTCCC
TCCAGCTTCAATGACATCAGCCAGGACTGGCGTCTGCGGCATTTTGTCGGCTGGGTGTGG
TACGAACGGGAGGTGATCCTGCCGGAGCGATGGACCCAGGACCTGCGCACAAGAGTGGTG
CTGAGGATTGGCAGTGCCCATTCCTATGCCATCGTGTGGGTGAATGGGGTCGACACGCTA
GAGCATGAGGGGGGCTACCTCCCCTTCGAGGCCGACATCAGCAACCTGGTCCAGGTGGGG
CCCCTGCCCTCCCGGCTCCGAATCACTATCGCCATCAACAACACACTCACCCCCACCACC
CTGCCACCAGGGACCATCCAATACCTGACTGACACCTCCAAGTATCCCAAGGGTTACTTT
GTCCAGAACACATATTTTGACTTTTTCAACTACGCTGGACTGCAGCGGTCTGTACTTCTG
TACACGACACCCACCACCTACATCGATGACATCACCGTCACCACCAGCGTGGAGCAAGAC
AGTGGGCTGGTGAATTACCAGATCTCTGTCAAGGGCAGTAACCTGTTCAAGTTGGAAGTG
CGTCTTTTGGATGCAGAAAACAAAGTCGTGGCGAATGGGACTGGGACCCAGGGCCAACTT
AAGGTGCCAGGTGTCAGCCTCTGGTGGCCGTACCTGATGCACGAACGCCCTGCCTATCTG
TATTCATTGGAGGTGCAGCTGACTGCACAGACGTCACTGGGGCCTGTGTCTGACTTCTAC
ACACTCCCTGTGGGGATCCGCACTGTGGCTGTCACCAAGAGCCAGTTCCTCATCAATGGG
AAACCTTTCTATTTCCACGGTGTCAACAAGCATGAGGATGCGGACATCCGAGGGAAGGGC
TTCGACTGGCCGCTGCTGGTGAAGGACTTCAACCTGCTTCGCTGGCTTGGTGCCAACGCT
TTCCGTACCAGCCACTACCCCTATGCAGAGGAAGTGATGCAGATGTGTGACCGCTATGGG
ATTGTGGTCATCGATGAGTGTCCCGGCGTGGGCCTGGCGCTGCCGCAGTTCTTCAACAAC
GTTTCTCTGCATCACCACATGCAGGTGATGGAAGAAGTGGTGCGTAGGGACAAGAACCAC
CCCGCGGTCGTGATGTGGTCTGTGGCCAACGAGCCTGCGTCCCACCTAGAATCTGCTGGC
TACTACTTGAAGATGGTGATCGCTCACACCAAATCCTTGGACCCCTCCCGGCCTGTGACC
TTTGTGAGCAACTCTAACTATGCAGCAGACAAGGGGGCTCCGTATGTGGATGTGATCTGT
TTGAACAGCTACTACTCTTGGTATCACGACTACGGGCACCTGGAGTTGATTCAGCTGCAG
CTGGCCACCCAGTTTGAGAACTGGTATAAGAAGTATCAGAAGCCCATTATTCAGAGCGAG
TATGGAGCAGAAACGATTGCAGGGTTTCACCAGGATCCACCTCTGATGTTCACTGAAGAG
TACCAGAAAAGTCTGCTAGAGCAGTACCATCTGGGTCTGGATCAAAAACGCAGAAAATAT
GTGGTTGGAGAGCTCATTTGGAATTTTGCCGATTTCATGACTGAACAGTCACCGACGAGA
GTGCTGGGGAATAAAAAGGGGATCTTCACTCGGCAGAGACAACCAAAAAGTGCAGCGTTC
CTTTTGCGAGAGAGATACTGGAAGATTGCCAATGAAACCAGGTATCCCCACTCAGTAGCC
AAGTCACAATGTTTGGAAAACAGCCCGTTTACTTGA
|
| Enzyme 1 GenBank Gene ID |
M15182  |
| Enzyme 1 GeneCard ID |
GUSB  |
| Enzyme 1 GenAtlas ID |
GUSB  |
| Enzyme 1 HGNC ID |
HGNC:4696  |
| Enzyme 1 Chromosome Location |
7 |
| Enzyme 1 Locus |
7q21.11 |
| Enzyme 1 SNPs |
SNPJam Report  |
| Enzyme 1 General References |
- Oshima A, Kyle JW, Miller RD, Hoffmann JW, Powell PP, Grubb JH, Sly WS, Tropak M, Guise KS, Gravel RA: Cloning, sequencing, and expression of cDNA for human beta-glucuronidase. Proc Natl Acad Sci U S A. 1987 Feb;84(3):685-9. [PubMed
]
- Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, Sun H, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK: The DNA sequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64. [PubMed
]
- Shipley JM, Miller RD, Wu BM, Grubb JH, Christensen SG, Kyle JW, Sly WS: Analysis of the 5' flanking region of the human beta-glucuronidase gene. Genomics. 1991 Aug;10(4):1009-18. [PubMed
]
- Tanaka J, Gasa S, Sakurada K, Miyazaki T, Kasai M, Makita A: Characterization of the subunits and sugar moiety of human placental and leukemic beta-glucuronidase. Biol Chem Hoppe Seyler. 1992 Jan;373(1):57-62. [PubMed
]
- Guise KS, Korneluk RG, Waye J, Lamhonwah AM, Quan F, Palmer R, Ganschow RE, Sly WS, Gravel RA: Isolation and expression in Escherichia coli of a cDNA clone encoding human beta-glucuronidase. Gene. 1985;34(1):105-10. [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
]
- Jain S, Drendel WB, Chen ZW, Mathews FS, Sly WS, Grubb JH: Structure of human beta-glucuronidase reveals candidate lysosomal targeting and active-site motifs. Nat Struct Biol. 1996 Apr;3(4):375-81. [PubMed
]
- Vervoort R, Lissens W, Liebaers I: Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes. Hum Mutat. 1993;2(6):443-5. [PubMed
]
- Wu BM, Sly WS: Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. Hum Mutat. 1993;2(6):446-57. [PubMed
]
- Tomatsu S, Fukuda S, Sukegawa K, Ikedo Y, Yamada S, Yamada Y, Sasaki T, Okamoto H, Kuwahara T, Yamaguchi S, et al.: Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. Am J Hum Genet. 1991 Jan;48(1):89-96. [PubMed
]
- Shipley JM, Klinkenberg M, Wu BM, Bachinsky DR, Grubb JH, Sly WS: Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. Am J Hum Genet. 1993 Mar;52(3):517-26. [PubMed
]
|
| Enzyme 1 Metabolite References |
Not Available |
|
Enzyme 2
[top]
|
| Enzyme 2 ID |
13064 |
| Enzyme 2 Name |
MIOX protein |
| Enzyme 2 Synonyms |
- Myo-inositol oxygenase, isoform CRA_d
- Myo-inositol oxygenase
|
| Enzyme 2 Gene Name |
MIOX |
| Enzyme 2 Protein Sequence |
>MIOX protein
MKVTVGPDPSLVYRPDVDPEVAKDKASFRNYTSGPLLDRVFTTYKLMHTHQTVDFVRSKH
AQFGGFSYKKMTVMEAVDLLDGLVDESDPDVDFPNSFHAFQTAEGIRKAHPDKVPNLPCP
SPSQTGSTSSGSCTTWGRSWPCSGSPSGLSSATPSPSDAVRRPPWFSATPPSRTTLTSRI
LDTAQSSGCISPTVGSTGSSCPGAMMQVRPLHQVPGPAGRGQAAALLPGAH
|
| Enzyme 2 Number of Residues |
231 |
| Enzyme 2 Molecular Weight |
24516 |
| Enzyme 2 Theoretical pI |
8.23 |
| Enzyme 2 GO Classification |
Not Available |
| Enzyme 2 General Function |
Not Available |
| Enzyme 2 Specific Function |
Not Available |
| Enzyme 2 Pathways |
Not Available |
| Enzyme 2 Reactions |
Not Available |
| Enzyme 2 Pfam Domain Function |
|
| Enzyme 2 Signals |
|
| Enzyme 2 Transmembrane Regions |
|
| Enzyme 2 Essentiality |
Not Available |
| Enzyme 2 GenBank ID Protein |
116283362  |
| Enzyme 2 UniProtKB/Swiss-Prot ID |
Q05DJ6  |
| Enzyme 2 UniProtKB/Swiss-Prot Entry Name |
Q05DJ6_HUMAN  |
| Enzyme 2 PDB ID |
Not Available |
| Enzyme 2 Cellular Location |
Not Available |
| Enzyme 2 Gene Sequence |
Not Available |
| Enzyme 2 GenBank Gene ID |
BC012025  |
| Enzyme 2 GeneCard ID |
Q05DJ6  |
| Enzyme 2 GenAtlas ID |
MIOX  |
| Enzyme 2 HGNC ID |
HGNC:14522  |
| Enzyme 2 Chromosome Location |
Not Available |
| Enzyme 2 Locus |
Not Available |
| Enzyme 2 SNPs |
SNPJam Report  |
| Enzyme 2 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 2 Metabolite References |
Not Available |
|
Enzyme 3
[top]
|
| Enzyme 3 ID |
14922 |
| Enzyme 3 Name |
Dermatan-sulfate epimerase |
| Enzyme 3 Synonyms |
- DS epimerase
- Chondroitin-glucuronate 5-epimerase
- Squamous cell carcinoma antigen recognized by T-cells 2
- SART-2
|
| Enzyme 3 Gene Name |
DSE |
| Enzyme 3 Protein Sequence |
>Dermatan-sulfate epimerase
MRTHTRGAPSVFFIYLLCFVSAYITDENPEVMIPFTNANYDSHPMLYFSRAEVAELQLRA
ASSHEHIAARLTEAVHTMLSSPLEYLPPWDPKDYSARWNEIFGNNLGALAMFCVLYPENI
EARDMAKDYMERMAAQPSWLVKDAPWDEVPLAHSLVGFATAYDFLYNYLSKTQQEKFLEV
IANASGYMYETSYRRGWGFQYLHNHQPTNCMALLTGSLVLMNQGYLQEAYLWTKQVLTIM
EKSLVLLREVTDGSLYEGVAYGSYTTRSLFQYMFLVQRHFNINHFGHPWLKQHFAFMYRT
ILPGFQRTVAIADSNYNWFYGPESQLVFLDKFVMRNGSGNWLADQIRRNRVVEGPGTPSK
GQRWCTLHTEFLWYDGSLKSVPPPDFGTPTLHYFEDWGVVTYGSALPAEINRSFLSFKSG
KLGGRAIYDIVHRNKYKDWIKGWRNFNAGHEHPDQNSFTFAPNGVPFITEALYGPKYTFF
NNVLMFSPAVSKSCFSPWVGQVTEDCSSKWSKYKHDLAASCQGRVVAAEEKNGVVFIRGE
GVGAYNPQLNLKNVQRNLILLHPQLLLLVDQIHLGEESPLETAASFFHNVDVPFEETVVD
GVHGAFIRQRDGLYKMYWMDDTGYSEKATFASVTYPRGYPYNGTNYVNVTMHLRSPITRA
AYLFIGPSIDVQSFTVHGDSQQLDVFIATSKHAYATYLWTGEATGQSAFAQVIADRHKIL
FDRNSAIKSSIVPEVKDYAAIVEQNLQHFKPVFQLLEKQILSRVRNTASFRKTAERLLRF
SDKRQTEEAIDRIFAISQQQQQQSKSKKNRRAGKRYKFVDAVPDIFAQIEVNEKKIRQKA
QILAQKELPIDEDEEMKDLLDFADVTYEKHKNGGLIKGRFGQARMVTTTHSRAPSLSASY
TRLFLILNIAIFFVMLAMQLTYFQRAQSLHGQRCLYAVLLIDSCILLWLYSSCSQSQC
|
| Enzyme 3 Number of Residues |
958 |
| Enzyme 3 Molecular Weight |
109774 |
| Enzyme 3 Theoretical pI |
8.19 |
| Enzyme 3 GO Classification |
Not Available |
| Enzyme 3 General Function |
Not Available |
| Enzyme 3 Specific Function |
Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues |
| Enzyme 3 Pathways |
Not Available |
| Enzyme 3 Reactions |
Not Available |
| Enzyme 3 Pfam Domain Function |
Not Available |
| Enzyme 3 Signals |
|
| Enzyme 3 Transmembrane Regions |
|
| Enzyme 3 Essentiality |
Not Available |
| Enzyme 3 GenBank ID Protein |
6002669  |
| Enzyme 3 UniProtKB/Swiss-Prot ID |
Q9UL01  |
| Enzyme 3 UniProtKB/Swiss-Prot Entry Name |
DSE_HUMAN  |
| Enzyme 3 PDB ID |
Not Available |
| Enzyme 3 Cellular Location |
Not Available |
| Enzyme 3 Gene Sequence |
>2877 bp
ATGAGGACTCACACACGGGGGGCTCCCAGTGTGTTTTTCATATATTTGCTTTGCTTTGTG
TCAGCCTACATCACCGACGAGAACCCAGAAGTTATGATTCCCTTCACCAATGCCAACTAC
GACAGCCATCCCATGCTGTACTTCTCCAGGGCAGAAGTGGCGGAGCTGCAGCTCAGGGCT
GCCAGCTCGCACGAGCACATTGCAGCCCGCCTCACGGAGGCTGTGCACACGATGCTGTCC
AGCCCCTTGGAATACCTCCCTCCCTGGGATCCCAAGGACTACAGTGCCCGCTGGAATGAA
ATTTTTGGAAACAACTTGGGTGCCTTGGCAATGTTCTGTGTGCTGTATCCTGAGAACATT
GAAGCCCGAGACATGGCCAAAGACTACATGGAGAGGATGGCAGCGCAGCCTAGTTGGTTG
GTGAAAGATGCTCCTTGGGATGAGGTCCCGCTTGCTCACTCCCTGGTTGGTTTTGCCACT
GCTTATGACTTCTTGTACAACTACCTGAGCAAGACACAACAGGAGAAGTTTCTTGAAGTG
ATTGCCAATGCCTCAGGGTATATGTATGAAACTTCATACAGGAGAGGATGGGGATTTCAA
TACCTGCACAATCATCAGCCCACCAACTGTATGGCTTTGCTCACGGGAAGCCTAGTCCTG
ATGAATCAAGGATATCTTCAAGAAGCCTACTTATGGACCAAACAAGTTCTGACCATCATG
GAGAAATCTCTGGTCTTGCTCAGGGAGGTGACGGATGGCTCCCTCTATGAAGGAGTTGCG
TATGGCAGCTACACCACTAGATCACTCTTCCAATACATGTTTCTCGTCCAGAGGCACTTC
AACATCAACCACTTTGGCCATCCGTGGCTTAAACAACACTTTGCATTTATGTATAGAACC
ATCCTGCCAGGGTTTCAAAGGACTGTGGCTATTGCGGACTCAAATTACAACTGGTTTTAT
GGTCCAGAAAGCCAATTAGTGTTCCTTGATAAATTTGTCATGCGTAATGGCAGTGGTAAC
TGGCTAGCTGACCAAATCAGAAGGAACCGTGTGGTGGAAGGTCCAGGAACACCATCCAAA
GGGCAGCGCTGGTGCACTCTGCACACAGAATTTCTCTGGTATGATGGCAGCTTGAAATCG
GTTCCTCCTCCAGACTTTGGCACCCCTACACTGCATTATTTTGAAGACTGGGGTGTCGTG
ACTTATGGAAGTGCACTACCTGCAGAAATCAATAGATCTTTCCTTTCCTTCAAGTCTGGA
AAACTGGGGGGACGTGCAATATATGACATTGTCCACAGAAACAAATACAAAGATTGGATC
AAAGGATGGAGAAATTTTAATGCAGGGCATGAACATCCTGATCAAAACTCATTTACTTTT
GCTCCCAATGGTGTGCCTTTCATTACTGAGGCTCTGTACGGGCCAAAGTACACCTTCTTC
AACAATGTTTTGATGTTTTCCCCAGCTGTGTCAAAGAGCTGCTTTTCTCCCTGGGTGGGT
CAGGTCACAGAAGACTGCTCATCAAAATGGTCTAAATACAAGCATGACCTGGCAGCTAGT
TGTCAGGGGAGGGTGGTTGCAGCAGAGGAGAAAAATGGGGTGGTTTTCATCCGAGGAGAA
GGTGTGGGAGCTTATAACCCCCAGCTCAACCTGAAGAATGTTCAGAGGAATCTCATCCTC
CTACATCCACAGCTGCTTCTCCTTGTAGACCAAATACACCTGGGAGAGGAGAGTCCCTTG
GAGACAGCAGCGAGCTTCTTCCATAATGTGGATGTTCCTTTTGAGGAGACTGTGGTAGAT
GGTGTCCATGGGGCTTTCATCAGGCAGAGAGATGGTCTCTATAAAATGTACTGGATGGAC
GATACTGGCTACAGCGAGAAAGCAACCTTTGCCTCAGTGACATATCCTCGGGGCTATCCC
TACAACGGGACAAACTATGTGAATGTCACCATGCACCTCCGAAGTCCCATCACCAGGGCA
GCTTACCTCTTCATAGGGCCATCTATAGATGTTCAGAGCTTCACTGTCCACGGAGACTCT
CAGCAACTGGATGTGTTCATAGCCACCAGCAAACATGCCTACGCCACATACCTGTGGACA
GGTGAGGCCACAGGACAGTCTGCCTTTGCACAGGTCATTGCTGATCGTCACAAAATTCTG
TTTGACCGGAATTCAGCCATCAAGAGCAGCATTGTCCCTGAGGTGAAGGACTATGCTGCT
ATTGTGGAACAGAACTTGCAGCATTTTAAACCAGTGTTTCAGCTGCTGGAGAAGCAGATA
CTGTCCCGAGTCCGGAACACAGCTAGCTTTAGGAAGACTGCTGAACGCCTGCTGAGATTT
TCAGATAAGAGACAGACTGAGGAGGCCATTGACAGGATTTTTGCCATATCACAGCAACAG
CAGCAGCAAAGCAAGTCAAAGAAAAACCGAAGGGCAGGCAAACGCTATAAATTTGTGGAT
GCTGTCCCTGATATTTTTGCACAGATTGAAGTCAATGAGAAAAAGATTAGACAGAAAGCT
CAGATTTTGGCACAGAAAGAACTACCCATAGATGAAGATGAAGAAATGAAAGACCTTTTA
GATTTTGCAGATGTAACATACGAGAAACATAAAAATGGGGGCTTGATTAAAGGCCGGTTT
GGACAGGCACGGATGGTGACAACTACACACAGCAGGGCCCCATCACTGTCTGCTTCCTAT
ACCAGGTTGTTCCTGATTCTGAACATTGCTATTTTCTTTGTCATGTTGGCAATGCAACTG
ACTTATTTCCAGAGGGCCCAGAGCCTACATGGCCAAAGATGTCTTTATGCAGTTCTTCTC
ATAGATAGCTGTATTTTATTATGGTTGTACTCTTCTTGTTCCCAATCACAGTGTTAG
|
| Enzyme 3 GenBank Gene ID |
AF098066  |
| Enzyme 3 GeneCard ID |
Q9UL01  |
| Enzyme 3 GenAtlas ID |
DSE  |
| Enzyme 3 HGNC ID |
HGNC:21144  |
| Enzyme 3 Chromosome Location |
Not Available |
| Enzyme 3 Locus |
Not Available |
| Enzyme 3 SNPs |
SNPJam Report  |
| Enzyme 3 General References |
- Nakao M, Shichijo S, Imaizumi T, Inoue Y, Matsunaga K, Yamada A, Kikuchi M, Tsuda N, Ohta K, Takamori S, Yamana H, Fujita H, Itoh K: Identification of a gene coding for a new squamous cell carcinoma antigen recognized by the CTL. J Immunol. 2000 Mar 1;164(5):2565-74. [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
]
|
| Enzyme 3 Metabolite References |
Not Available |