UGT1A5
| UGT1A5 | |||
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Gene ontology | |||
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| Sources:Amigo / QuickGO | |||
Ensembl |
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| UniProt |
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| RefSeq (mRNA) |
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| RefSeq (protein) |
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| Location (UCSC) | Chr 2: 233.71 – 233.77 Mb | n/a | |||||||
| PubMed search | [2] | n/a | |||||||
| View/Edit Human | |||
UDP-glucuronosyltransferase 1-5 is an enzyme that in humans is encoded by the UGT1A5 gene.[3][4][5]
Function
This gene encodes a
steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter.[3]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000288705 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: UDP glucuronosyltransferase 1 family".
- PMID 1339448.
- PMID 9295054.
Further reading
- Yea SS, Lee SS, Kim WY, et al. (2008). "Genetic variations and haplotypes of UDP-glucuronosyltransferase 1A locus in a Korean population". Ther Drug Monit. 30 (1): 23–34. S2CID 34396409.
- Sanna S, Busonero F, Maschio A, et al. (2009). "Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia". Hum. Mol. Genet. 18 (14): 2711–8. PMID 19419973.
- Zhang T, Haws P, Wu Q (2004). "Multiple Variable First Exons: A Mechanism for Cell- and Tissue-Specific Gene Regulation". Genome Res. 14 (1): 79–89. PMID 14672974.
- King CD, Rios GR, Green MD, Tephly TR (2000). "UDP-glucuronosyltransferases". Curr. Drug Metab. 1 (2): 143–61. PMID 11465080.
- van Es HH, Bout A, Liu J, et al. (1993). "Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37". Cytogenet. Cell Genet. 63 (2): 114–6. PMID 8467709.
- Gong QH, Cho JW, Huang T, et al. (2001). "Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus". Pharmacogenetics. 11 (4): 357–68. PMID 11434514.
- Tukey RH, Strassburg CP (2000). "Human UDP-glucuronosyltransferases: metabolism, expression, and disease". Annu. Rev. Pharmacol. Toxicol. 40: 581–616. PMID 10836148.
- Ross CJ, Katzov-Eckert H, Dubé MP, et al. (2009). "Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy". Nat. Genet. 41 (12): 1345–9. S2CID 21293339.
- Johnson AD, Kavousi M, Smith AV, Chen MH, Dehghan A, Aspelund T, Lin JP, van Duijn CM, Harris TB, Cupples LA, Uitterlinden AG, Launer L, Hofman A, Rivadeneira F, Stricker B, Yang Q, O'Donnell CJ, Gudnason V, Witteman JC (July 2009). "Genome-wide association meta-analysis for total serum bilirubin levels". Hum. Mol. Genet. 18 (14): 2700–10. PMID 19414484.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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