UGT1A1

GENE INFORMATION

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Gene name

UGT1A1 (HGNC Symbol)

Synonyms

GNT1, UGT1, UGT1A

Description

UDP glucuronosyltransferase 1 family, polypeptide A1 (HGNC Symbol)

Entrez gene summary

This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as 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. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008]

Chromosome

2

Cytoband

q37.1

Chromosome location (bp)

234668894 - 234681945

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000242366 (version 75.37)

Entrez gene

54658

UniProt

P22309 (UniProt - Evidence at protein level)

neXtProt

NX_P22309

Antibodypedia

UGT1A1 antibodies
 

PROTEIN VIEW

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UGT1A1-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

UGT1A1-001 ENSP00000304845
ENST00000305208
P22309
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