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UGT1A1 UDP glucuronosyltransferase family 1 member A1

Gene ID: 54658, updated on 25-Apr-2024
Gene type: protein coding
Also known as: GNT1; UGT1; UDPGT; UGT1A; HUG-BR1; BILIQTL1; UDPGT 1-1

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide assessment of variability in human serum metabolism.
GeneReviews: Not available
A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.
GeneReviews: Not available
A genome-wide association study identifies UGT1A1 as a regulator of serum cell-free DNA in young adults: The Cardiovascular Risk in Young Finns Study.
GeneReviews: Not available
A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.
GeneReviews: Not available
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Association of SNPs in the UGT1A gene cluster with total bilirubin and mortality in the Diabetes Heart Study.
GeneReviews: Not available
Atazanavir response
MedGen: CN417141GeneReviews: Not available
See labs
Belinostat response
MedGen: CN282543GeneReviews: Not available
See labs
Bilirubin, serum level of, quantitative trait locus 1
MedGen: C1866173OMIM: 601816GeneReviews: Not available
See labs
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
GeneReviews: Not available
Crigler-Najjar syndrome type 1
MedGen: C0010324OMIM: 218800GeneReviews: Not available
See labs
Crigler-Najjar syndrome, type II
MedGen: C2931132OMIM: 606785GeneReviews: Not available
See labs
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genetic determinants influencing human serum metabolome among African Americans.
GeneReviews: Not available
Genome-wide analysis of hepatic lipid content in extreme obesity.
GeneReviews: Not available
Genome-wide association meta-analysis for total serum bilirubin levels.
GeneReviews: Not available
Genome-wide association of serum bilirubin levels in Korean population.
GeneReviews: Not available
Gilbert syndrome
MedGen: C0017551OMIM: 143500GeneReviews: Not available
See labs
Human metabolic individuality in biomedical and pharmaceutical research.
GeneReviews: Not available
Irinotecan response
MedGen: CN077989GeneReviews: Not available
See labs
Lucey-Driscoll syndrome
MedGen: C0270210OMIM: 237900GeneReviews: Not available
See labs
Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.
GeneReviews: Not available
UGT1A1 is a major locus influencing bilirubin levels in African Americans.
GeneReviews: Not available

Genomic context

Location:
2q37.1
Sequence:
Chromosome: 2; NC_000002.12 (233760270..233773300)
Total number of exons:
5

Links

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