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UGT1A3 UDP glucuronosyltransferase family 1 member A3 [ Homo sapiens (human) ]

Gene ID: 54659, updated on 19-Aug-2018

Summary

Official Symbol
UGT1A3provided by HGNC
Official Full Name
UDP glucuronosyltransferase family 1 member A3provided by HGNC
Primary source
HGNC:HGNC:12535
See related
Ensembl:ENSG00000243135 MIM:606428; Vega:OTTHUMG00000059118
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
UDPGT; UGT1C; UGT-1C; UGT1.3; UGT1-03; UGT1A3S; UDPGT 1-3
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. Substrates of this enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene. [provided by RefSeq, Jul 2008]
Orthologs

Genomic context

See UGT1A3 in Genome Data Viewer
Location:
2q37.1
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (233729127..233773299)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234637773..234681945)

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 A13, pseudogene 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 ribosomal protein L17 pseudogene 11 Neighboring gene UDP glucuronosyltransferase family 1 member A4 Neighboring gene DnaJ heat shock protein family (Hsp40) member B3 pseudogene Neighboring gene DnaJ heat shock protein family (Hsp40) member B3 Neighboring gene UDP glucuronosyltransferase family 1 member A2, pseudogene Neighboring gene UDP glucuronosyltransferase family 1 member A1 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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
An atlas of genetic influences on human blood metabolites.
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
Genetic determinants influencing human serum metabolome among African Americans.
NHGRI GWA Catalog
Genome-wide analysis of hepatic lipid content in extreme obesity.
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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UDP-glycosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucuronosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
retinoic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular glucuronidation IDA
Inferred from Direct Assay
more info
PubMed 
flavonoid glucuronidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flavonoid glucuronidation IDA
Inferred from Direct Assay
more info
PubMed 
retinoic acid metabolic process IC
Inferred by Curator
more info
PubMed 
xenobiotic glucuronidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
xenobiotic glucuronidation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
UDP-glucuronosyltransferase 1-3
Names
UDP glucuronosyltransferase 1 family, polypeptide A3
UDP glycosyltransferase 1 family, polypeptide A3
UDP-glucuronosyltransferase 1 family polypeptide A3s
UDP-glucuronosyltransferase 1-C
UDP-glucuronosyltransferase 1A3
UGT1*3
NP_061966.1

NCBI Reference Sequences (RefSeq)

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
    144384..188556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_019093.2NP_061966.1  UDP-glucuronosyltransferase 1-3 precursor

    See identical proteins and their annotated locations for NP_061966.1

    Status: REVIEWED

    Source sequence(s)
    AY435138
    Consensus CDS
    CCDS2509.1
    UniProtKB/Swiss-Prot
    P35503
    UniProtKB/TrEMBL
    Q5DT01
    Related
    ENSP00000418532.1, OTTHUMP00000065193, ENST00000482026.5, OTTHUMT00000130983
    Conserved Domains (2) summary
    PHA03392
    Location:262508
    egt; ecdysteroid UDP-glucosyltransferase; Provisional
    pfam00201
    Location:29525
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    233729127..233773299
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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