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UGT1A4 UDP glucuronosyltransferase family 1 member A4 [ Homo sapiens (human) ]

Gene ID: 54657, updated on 8-May-2016
Official Symbol
UGT1A4provided by HGNC
Official Full Name
UDP glucuronosyltransferase family 1 member A4provided by HGNC
Primary source
HGNC:HGNC:12536
See related
Ensembl:ENSG00000244474 HPRD:08402; MIM:606429; Vega:OTTHUMG00000059119
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; UGT1D; UGT-1D; UGT1.4; HUG-BR2; UGT1-04; UGT1A4S; UDPGT 1-4
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. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins. [provided by RefSeq, Jul 2008]
Location:
2q37
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (233718792..233773299)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234627438..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 A11, pseudogene Neighboring gene UDP glucuronosyltransferase family 1 member A8 Neighboring gene UDP glucuronosyltransferase family 1 member A13, pseudogene 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 ribosomal protein L17 pseudogene 11 Neighboring gene DnaJ heat shock protein family (Hsp40) member B3 pseudogene Neighboring gene UDP glucuronosyltransferase family 1 member A3 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
glucuronosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT glucuronosyltransferase activity IKR
Inferred from Key Residues
more info
PubMed 
glucuronosyltransferase activity ISS
Inferred from Sequence or Structural Similarity
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
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT retinoic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
bilirubin conjugation TAS
Traceable Author Statement
more info
 
cellular glucuronidation IDA
Inferred from Direct Assay
more info
PubMed 
cellular glucuronidation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cellular glucuronidation TAS
Traceable Author Statement
more info
 
NOT drug metabolic process IKR
Inferred from Key Residues
more info
PubMed 
flavonoid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
flavonoid glucuronidation IBA
Inferred from Biological aspect of Ancestor
more info
 
heme catabolic process TAS
Traceable Author Statement
more info
 
negative regulation of cellular glucuronidation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of fatty acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of glucuronosyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
xenobiotic glucuronidation IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum NAS
Non-traceable Author Statement
more info
PubMed 
NOT endoplasmic reticulum membrane IKR
Inferred from Key Residues
more info
PubMed 
endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
UDP-glucuronosyltransferase 1-4
Names
UDP glucuronosyltransferase 1 family, polypeptide A4
UDP glycosyltransferase 1 family, polypeptide A4
UDP-glucuronosyltransferase 1 family polypeptide A4s
UDP-glucuronosyltransferase 1-D
UDP-glucuronosyltransferase 1A4
bilirubin UDP-glucuronosyltransferase isozyme 2
bilirubin-specific UDPGT isozyme 2
NP_009051.1

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 RefSeqGene

    Range
    134049..188556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_007120.2NP_009051.1  UDP-glucuronosyltransferase 1-4 precursor

    See identical proteins and their annotated locations for NP_009051.1

    Status: REVIEWED

    Source sequence(s)
    AY435139, M57951
    Consensus CDS
    CCDS33405.1
    UniProtKB/Swiss-Prot
    P22310
    Related
    ENSP00000362508, OTTHUMP00000065194, ENST00000373409, OTTHUMT00000130984
    Conserved Domains (2) summary
    cd03784
    Location:49445
    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:29525
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    233718792..233773299
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    234633252..234687806
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)