GeneID: 35
Names
Common Name: | UGT1A1 | Type: | Gene |
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Chromosome: | 2 (NC_000002.12) | Locus: | NG_002601.2 (UGT1A) |
HUGO Symbol: | UGT1A1 | Full Name: | UDP glucuronosyltransferase family 1 member A1 |
Exons: | 5 | Introns: | 4 |
Description:
UGT1A1 is a member of the enzyme family of UGTs [UDT (uridine diphosphate) glucuronosyltransferases] that catalyze the addition of glucuronic acid to a diverse array of lipophilic compounds in order to mediate their biotransformation into soluble derivatives for excretion in urine and bile. Glucuronidation is an important detoxification process. UGTs are membrane glycoproteins of the endoplasmic reticulum. The UGT1A1 gene is part of a complex locus encoding several UGTs that are classified by sequence homology into two major families, UGT1A and UGT2. The UGT1A locus includes thirteen alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Alternative usage of alternate first exons encoding the substrate binding site results in nine active UGT1A enzymes. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. Polymorphisms in this gene are associated with bilirubin levels in sickle cell patients.
Synonyms: UGT1A
Comments:
N/A
Number of entries/variants: 1
IthaScore
Publications / Origin
- Udomuksorn W, Elliot DJ, Lewis BC, Mackenzie PI, Yoovathaworn K, Miners JO, Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates., Pharmacogenet. Genomics , 17(12), 1017-29, 2007
- Tang L, Singh R, Liu Z, Hu M, Structure and concentration changes affect characterization of UGT isoform-specific metabolism of isoflavones., Mol. Pharm. , 6(5), 1466-82, 2009
- Rouleau M, Collin P, Bellemare J, Harvey M, Guillemette C, Protein-protein interactions between the bilirubin-conjugating UDP-glucuronosyltransferase UGT1A1 and its shorter isoform 2 regulatory partner derived from alternative splicing., Biochem. J. , 450(1), 107-14, 2013
A/A | Date | Curator(s) | Comments |
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1 | 2014-04-01 14:19:10 | The IthaGenes Curation Team | Created |
2 | 2016-04-25 16:04:57 | The IthaGenes Curation Team | Reviewed. |
3 | 2016-04-25 16:09:43 | The IthaGenes Curation Team | Reviewed. |
4 | 2016-04-25 16:13:46 | The IthaGenes Curation Team | Reviewed. |