U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

UGT1A1 UDP glucuronosyltransferase family 1 member A1 [ Homo sapiens (human) ]

Gene ID: 54658, updated on 6-Nov-2022

Summary

Official Symbol
UGT1A1provided by HGNC
Official Full Name
UDP glucuronosyltransferase family 1 member A1provided by HGNC
Primary source
HGNC:HGNC:12530
See related
Ensembl:ENSG00000241635 MIM:191740; AllianceGenome:HGNC:12530
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See UGT1A1 in Genome Data Viewer
Location:
2q37.1
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (233760270..233773300)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (234248901..234261929)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234668916..234681946)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene UDP glucuronosyltransferase family 1 member A complex locus Neighboring gene UDP glucuronosyltransferase family 1 member A8 Neighboring gene UDP glucuronosyltransferase family 1 member A10 Neighboring gene UDP glucuronosyltransferase family 1 member A9 Neighboring gene UDP glucuronosyltransferase family 1 member A7 Neighboring gene UDP glucuronosyltransferase family 1 member A6 Neighboring gene UDP glucuronosyltransferase family 1 member A5 Neighboring gene UDP glucuronosyltransferase family 1 member A4 Neighboring gene UDP glucuronosyltransferase family 1 member A3 Neighboring gene DnaJ heat shock protein family (Hsp40) member B3 pseudogene Neighboring gene UDP glucuronosyltransferase family 1 member A2, pseudogene Neighboring gene maestro heat like repeat family member 2A Neighboring gene Holliday junction recognition protein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Atazanavir response
MedGen: CN417141 GeneReviews: Not available
Compare labs
Bilirubin, serum level of, quantitative trait locus 1
MedGen: C1866173 OMIM: 601816 GeneReviews: Not available
Compare labs
Crigler-Najjar syndrome type 1
MedGen: C0010324 OMIM: 218800 GeneReviews: Not available
Compare labs
Crigler-Najjar syndrome, type II
MedGen: C2931132 OMIM: 606785 GeneReviews: Not available
Compare labs
Gilbert syndrome
MedGen: C0017551 OMIM: 143500 GeneReviews: Not available
Compare labs
Irinotecan response
MedGen: CN077989 GeneReviews: Not available
Compare labs
Lucey-Driscoll syndrome
MedGen: C0270210 OMIM: 237900 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide assessment of variability in human serum metabolism.
EBI GWAS Catalog
A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.
EBI GWAS Catalog
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.
EBI GWAS Catalog
A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Association of SNPs in the UGT1A gene cluster with total bilirubin and mortality in the Diabetes Heart Study.
EBI GWAS Catalog
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genetic determinants influencing human serum metabolome among African Americans.
EBI GWAS Catalog
Genome-wide analysis of hepatic lipid content in extreme obesity.
EBI GWAS Catalog
Genome-wide association meta-analysis for total serum bilirubin levels.
EBI GWAS Catalog
Genome-wide association of serum bilirubin levels in Korean population.
EBI GWAS Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
EBI GWAS Catalog
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
UGT1A1 is a major locus influencing bilirubin levels in African Americans.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables enzyme inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables glucuronosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables glucuronosyltransferase activity TAS
Traceable Author Statement
more info
 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables retinoic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
enables steroid binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in acute-phase response IEA
Inferred from Electronic Annotation
more info
 
involved_in animal organ regeneration IEA
Inferred from Electronic Annotation
more info
 
involved_in bilirubin conjugation TAS
Traceable Author Statement
more info
 
involved_in biphenyl catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular glucuronidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular glucuronidation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular glucuronidation TAS
Traceable Author Statement
more info
 
involved_in cellular response to estradiol stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to ethanol IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to glucocorticoid stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in estrogen metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in flavone metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in flavonoid glucuronidation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in heterocycle metabolic process IC
Inferred by Curator
more info
PubMed 
involved_in liver development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of steroid metabolic process IC
Inferred by Curator
more info
PubMed 
involved_in response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
involved_in response to nutrient IEA
Inferred from Electronic Annotation
more info
 
involved_in response to starvation IEA
Inferred from Electronic Annotation
more info
 
involved_in retinoic acid metabolic process IC
Inferred by Curator
more info
PubMed 
involved_in steroid metabolic process IC
Inferred by Curator
more info
PubMed 
involved_in xenobiotic glucuronidation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in xenobiotic metabolic process IC
Inferred by Curator
more info
PubMed 
involved_in xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
part_of cytochrome complex IEA
Inferred from Electronic Annotation
more info
 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
part_of endoplasmic reticulum chaperone complex IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
UDP-glucuronosyltransferase 1A1
Names
UDP glucuronosyltransferase 1 family, polypeptide A1
UDP glycosyltransferase 1 family, polypeptide A1
UDP-glucuronosyltransferase 1-A
UDP-glucuronosyltransferase 1A
UGT-1A
UGT1*1
UGT1-01
UGT1.1
bilirubin UDP-glucuronosyltranserase
bilirubin UDP-glucuronosyltransferase 1-1
bilirubin UDP-glucuronosyltransferase isozyme 1
bilirubin-specific UDPGT isozyme 1
NP_000454.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_002601.2 RefSeqGene

    Range
    175530..188556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NG_033238.1 RefSeqGene

    Range
    5001..18027
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_733

mRNA and Protein(s)

  1. NM_000463.3NP_000454.1  UDP-glucuronosyltransferase 1A1 precursor

    See identical proteins and their annotated locations for NP_000454.1

    Status: REVIEWED

    Source sequence(s)
    AC006985, AY435136, M57899
    Consensus CDS
    CCDS2510.1
    UniProtKB/Swiss-Prot
    B8K286, P22309
    UniProtKB/TrEMBL
    Q5DT03
    Related
    ENSP00000304845.5, ENST00000305208.10
    Conserved Domains (1) summary
    pfam00201
    Location:28524
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    233760270..233773300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    234248901..234261929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)