GeneID: 35


Common Name: UGT1A1 Type: Gene
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

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


Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage.

Publications / Origin

  1. 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 PubMed
  2. 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 PubMed
  3. 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 PubMed
Created on 2014-04-01 14:19:10, Last reviewed on 2016-04-25 16:13:46 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.