UGT1A UDP glucuronosyltransferase family 1 member A complex locus [Homo sapiens (human)] - Gene

Summary

Official Symbol: UGT1Aprovided by HGNC
Official Full Name: UDP glucuronosyltransferase family 1 member A complex locusprovided by HGNC
Primary source: HGNC:HGNC:12529
See related: AllianceGenome:HGNC:12529
Gene type: other
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: UGT; GNT1; UGT1; UGT1A@
Summary: This RefSeq represents 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. [provided by RefSeq, Jul 2008]
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Genomic context

Location:: 2q37.1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (233585439..233773299)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (234074082..234261928)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (234494085..234681945)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Activity of Members of the UDP-Glucuronosyltransferase Subfamilies UGT1A and UGT2B is Impaired in Patients with Liver Cirrhosis.
Title: The Activity of Members of the UDP-Glucuronosyltransferase Subfamilies UGT1A and UGT2B is Impaired in Patients with Liver Cirrhosis.
Regulation of uridine diphosphate-glucuronosyltransferase 1A expression by miRNA-214-5p and miRNA-486-3p.
Title: Regulation of uridine diphosphate-glucuronosyltransferase 1A expression by miRNA-214-5p and miRNA-486-3p.
Genotypes of UGT1A and ABCB1 were significantly associated with changes in moxifloxacin pharmacokinetic parameters.
Title: Effect of genetic variation in UGT1A and ABCB1 on moxifloxacin pharmacokinetics in South African patients with tuberculosis.
The study demonstrates that miR-298 and miR-491-3p downregulates UGT1A expression.
Title: Regulation of UGT1A expression by miR-298 in human livers from the Han Chinese population and in human cell lines.
UGT1A7*3 allele emerged as a protective marker for hepatocellular carcinoma (HCC) development among both high-risk HBV/HCV-positive patients and healthy subjects.
Title: UGT1A polymorphisms as genetic biomarkers for hepatocellular carcinoma risk in Caucasian population.
a common UGT1A haplotype, prevalent in 9% (homozygous) of the White population, significantly impairs the expression of UGT1A enzymes capable of cellular detoxification, which profoundly affects the physiological responsiveness towards the putative tobacco and environmental carcinogen benzo[alpha]pyrene
Title: Protective effects of coffee against oxidative stress induced by the tobacco carcinogen benzo[α]pyrene.
Alternate UGT1A variants may thus be part of the expanding compendium of metabolic pathways involved in cancer biology.
Title: Cross-Talk between Alternatively Spliced UGT1A Isoforms and Colon Cancer Cell Metabolism.
in tumor liver microsomes from HCC patients, either V(max) (maximum reaction rate, R(max) for UGT1A1) or clearance rates (V(max)/K(m), Clint) of UGT1A, UGT1A1, UGT1A4, UGT1A9 and UGT2B7 were lower than those in the adjacent normal liver microsomes
Title: Drug-Metabolizing Activity, Protein and Gene Expression of UDP-Glucuronosyltransferases Are Significantly Altered in Hepatocellular Carcinoma Patients.
Article discusses the variabilities in the genes encoding the drug target (CYP19A1) or its metabolizing enzymes (CYP3A and UGT1A) and its influence toward the interindividual variability in anastrozole's pharmacokinetics and/or pharmacodynamics.[Review]
Title: The influence of genetic polymorphisms on the efficacy and side effects of anastrozole in postmenopausal breast cancer patients.
study demonstrates that the Japanese HIV-1-infected patients who developed atazanavir-induced nephrolithiasis were approximately 5-fold more likely to have variants in the UGT1A-3'-untranslated region compared with those without nephrolithiasis
Title: Single-nucleotide polymorphisms in the UDP-glucuronosyltransferase 1A-3' untranslated region are associated with atazanavir-induced nephrolithiasis in patients with HIV-1 infection: a pharmacogenetic study.

Submit: New GeneRIF Correction See all GeneRIFs (46)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Association of SNPs in the UGT1A gene cluster with total bilirubin and mortality in the Diabetes Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variation and the control of HIV-1 in humans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants influencing human serum metabolome among African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci associated with bladder cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Human metabolic individuality in biomedical and pharmaceutical research. EBI GWAS Catalog EBI GWAS CatalogPubMed
Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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General gene information

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Other Names

UDP glucuronosyltransferase 1 family, polypeptide A cluster
UDP glucuronosyltransferase 1 family, polypeptide A complex locus
UDP glycosyltransferase 1 family, polypeptide A cluster

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.