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UGT1A1

UGT1A1
Identifiers
Aliases UGT1A1, BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT 1-1, UGT1, UGT1A, UDP glucuronosyltransferase family 1 member A1
External IDs OMIM: 191740 MGI: 98898 HomoloGene: 128034 GeneCards: UGT1A1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000463

NM_201645

RefSeq (protein)

NP_000454

NP_964007.2
NP_964007

Location (UCSC) Chr 2: 233.76 – 233.77 Mb Chr 1: 88.21 – 88.22 Mb
PubMed search

NM_000463

NM_201645

NP_000454

NP_964007.2
NP_964007

UDP-glucuronosyltransferase 1-1 also known as UGT-1A is an enzyme that in humans is encoded by the UGT1A1 gene.

UGT-1A is a uridine diphosphate glucuronosyltransferase (UDP-glucuronosyltransferase, UDPGT), an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites.

The UGT1A1 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. Over 100 genetic variants within the UGT1A1 gene have been described, some of which confer increased, reduced or inactive enzymatic activity. The UGT nomenclature committee has compiled a list of these variants, naming each with a * symbol followed by a number.


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Wikipedia

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