UGT1A1 UDP glucuronosyltransferase family 1 member A1
Gene ID: 54658, updated on 2-Nov-2024Gene type: protein coding
Also known as: GNT1; UGT1; UDPGT; UGT1A; HUG-BR1; BILIQTL1; UDPGT 1-1
- See all available tests in GTR for this gene
- Go to complete Gene record for UGT1A1
- Go to Variation Viewer for UGT1A1 variants
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
| Description | Tests |
|---|---|
| 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 | See labs |
| Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. GeneReviews: Not available | |
| Crigler-Najjar syndrome type 1 | See labs |
| Crigler-Najjar syndrome, type II | 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 | See labs |
| Human metabolic individuality in biomedical and pharmaceutical research. GeneReviews: Not available | |
| Irinotecan response MedGen: CN077989GeneReviews: Not available | See labs |
| Lucey-Driscoll syndrome | 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
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for UGT1A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- UGT1A1 database
- Variation ViewerRelated Variants
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