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

Gene ID: 54658, updated on 25-Oct-2014
Official Symbol
UGT1A1provided by HGNC
Official Full Name
UDP glucuronosyltransferase 1 family, polypeptide A1provided by HGNC
Primary source
HGNC:HGNC:12530
See related
Ensembl:ENSG00000241635; HPRD:08933; MIM:191740; Vega:OTTHUMG00000059117
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]
See UGT1A1 in Epigenomics, MapViewer
Location:
2q37
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (233760273..233773299)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234668919..234681945)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A complex locus Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A8 Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A10 Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A9 Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A7 Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A6 Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A5 Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A4 Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A3 Neighboring gene dnaJ homolog subfamily B member 3-like Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A2 pseudogene Neighboring gene maestro heat-like repeat family member 2A Neighboring gene Holliday junction recognition protein

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Bilirubin, serum level of, quantitative trait locus 1
MedGen: C1866173 OMIM: 601816 GeneReviews: Not available
Compare labs
Crigler-Najjar syndrome
MedGen: CN119421 OMIM: 218800 GeneReviews: Not available
Compare labs
Crigler-Najjar syndrome, type II
MedGen: C0268311 OMIM: 606785 GeneReviews: Not available
Compare labs
Gilbert's 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

NHGRI GWAS Catalog

Description
A genome-wide assessment of variability in human serum metabolism.
NHGRI GWA Catalog
A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.
NHGRI GWA 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.
NHGRI GWA Catalog
A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.
NHGRI GWA Catalog
Association of SNPs in the UGT1A gene cluster with total bilirubin and mortality in the Diabetes Heart Study.
NHGRI GWA Catalog
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide association meta-analysis for total serum bilirubin levels.
NHGRI GWA Catalog
Genome-wide association of serum bilirubin levels in Korean population.
NHGRI GWA Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
NHGRI GWA Catalog
Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.
NHGRI GWA Catalog
UGT1A1 is a major locus influencing bilirubin levels in African Americans.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme binding IDA
Inferred from Direct Assay
more info
 
enzyme inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
glucuronosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
glucuronosyltransferase activity TAS
Traceable Author Statement
more info
 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 
retinoic acid binding IDA
Inferred from Direct Assay
more info
 
steroid binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
acute-phase response IEA
Inferred from Electronic Annotation
more info
 
bilirubin conjugation TAS
Traceable Author Statement
more info
PubMed 
biphenyl catabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular glucuronidation IDA
Inferred from Direct Assay
more info
PubMed 
cellular glucuronidation TAS
Traceable Author Statement
more info
 
cellular response to ethanol IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucocorticoid stimulus IEA
Inferred from Electronic Annotation
more info
 
digestion NAS
Non-traceable Author Statement
more info
PubMed 
drug metabolic process IC
Inferred by Curator
more info
PubMed 
estrogen metabolic process TAS
Traceable Author Statement
more info
PubMed 
flavone metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
flavonoid glucuronidation IDA
Inferred from Direct Assay
more info
 
heme catabolic process TAS
Traceable Author Statement
more info
 
heterocycle metabolic process IC
Inferred by Curator
more info
PubMed 
liver development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of catalytic activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cellular glucuronidation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of steroid metabolic process IC
Inferred by Curator
more info
PubMed 
organ regeneration IEA
Inferred from Electronic Annotation
more info
 
porphyrin-containing compound metabolic process TAS
Traceable Author Statement
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
response to starvation IEA
Inferred from Electronic Annotation
more info
 
retinoic acid metabolic process IC
Inferred by Curator
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
steroid metabolic process IC
Inferred by Curator
more info
PubMed 
xenobiotic glucuronidation IDA
Inferred from Direct Assay
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytochrome complex IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
UDP-glucuronosyltransferase 1-1
Names
UDP-glucuronosyltransferase 1-1
UGT-1A
UGT1*1
UGT1.1
UGT1-01
UDP-glucuronosyltransferase 1-A
UDP-glucuronosyltransferase 1A1
bilirubin-specific UDPGT isozyme 1
bilirubin UDP-glucuronosyltransferase 1-1
bilirubin UDP-glucuronosyltransferase isozyme 1
UDP glycosyltransferase 1 family, polypeptide A1
NP_000454.1

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 

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

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

mRNA and Protein(s)

  1. NM_000463.2NP_000454.1  UDP-glucuronosyltransferase 1-1 precursor

    See proteins identical to NP_000454.1

    Status: REVIEWED

    Source sequence(s)
    AY435136, M57899
    Consensus CDS
    CCDS2510.1
    UniProtKB/Swiss-Prot
    P22309
    UniProtKB/TrEMBL
    Q5DT03
    Related
    ENSP00000304845, OTTHUMP00000065192, ENST00000305208, OTTHUMT00000130982
    Conserved Domains (2) summary
    cd03784
    Location:29444
    GT1_Gtf_like; This family includes the Gtfs, a group of homologous glycosyltransferases involved in the final stages of the biosynthesis of antibiotics vancomycin and related chloroeremomycin. Gtfs transfer sugar moieties from an activated NDP-sugar donor to the ...
    pfam00201
    Location:28524
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    233760273..233773299
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    226468768..226481779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    234674733..234687806
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)