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UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 [ Homo sapiens (human) ]

Gene ID: 54578, updated on 4-May-2015
Official Symbol
UGT1A6provided by HGNC
Official Full Name
UDP glucuronosyltransferase 1 family, polypeptide A6provided by HGNC
Primary source
HGNC:HGNC:12538
See related
Ensembl:ENSG00000167165; HPRD:07071; MIM:606431; Vega:OTTHUMG00000059122
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; HLUGP; UDPGT; UGT1F; HLUGP1; UGT1A6S; UDPGT 1-6
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 enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript variants. [provided by RefSeq, Jul 2008]
Orthologs
See UGT1A6 in MapViewer
Location:
2q37
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (233691675..233773305)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234600321..234681951)

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 A11 pseudogene Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A8 Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A13 pseudogene 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 A5 Neighboring gene ribosomal protein L17 pseudogene 11 Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A4 Neighboring gene DnaJ (Hsp40) homolog, subfamily B, member 3 pseudogene Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A3 Neighboring gene DnaJ (Hsp40) homolog, subfamily B, member 3 pseudogene Neighboring gene DnaJ (Hsp40) homolog, subfamily B, member 3 Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A2 pseudogene Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide 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 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

Markers

Homology

Clone Names

  • MGC29860

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 
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
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
 
cellular response to hormone stimulus IBA
Inferred from Biological aspect of Ancestor
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
 
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 transferase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
xenobiotic glucuronidation IBA
Inferred from Biological aspect of Ancestor
more info
 
xenobiotic metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
xenobiotic metabolic process TAS
Traceable Author Statement
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
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
UDP-glucuronosyltransferase 1-6
Names
UDP-glucuronosyltransferase 1-6
UDP glycosyltransferase 1 family, polypeptide A6
UDP-glucuronosyltransferase 1 family polypeptide A6s
UDP-glucuronosyltransferase 1-F
UDP-glucuronosyltransferase 1A6
UGT-1F
UGT1*6
UGT1-06
UGT1.6
phenol-metabolizing UDP-glucuronosyltransferase
NP_001063.2
NP_995584.1

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
    106932..188562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001072.3NP_001063.2  UDP-glucuronosyltransferase 1-6 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001063.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Its first exon contains both the 5' UTR and the 5' coding sequence, as is typical of the UGT1A genes.
    Source sequence(s)
    AY435141, BE463503, DB014621
    Consensus CDS
    CCDS2507.1
    UniProtKB/Swiss-Prot
    P19224
    UniProtKB/TrEMBL
    Q5DSZ8
    Related
    ENSP00000303174, OTTHUMP00000065198, ENST00000305139, OTTHUMT00000130988
    Conserved Domains (2) summary
    cd03784
    Location:49443
    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:27523
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
  2. NM_205862.1NP_995584.1  UDP-glucuronosyltransferase 1-6 isoform 2

    See identical proteins and their annotated locations for NP_995584.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate exon and uses an alternate splice site in the unique 5' end, compared to variant 1. Variant 2 differs from the typical structure of a UGT1A transcript in that its first exon is entirely UTR while the coding sequence begins in the second exon. Variant 2 uses a downstream in-frame start codon compared to variant 1, resulting in isoform 2 which has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AY435138, BM688740, BM924331
    Consensus CDS
    CCDS2508.1
    UniProtKB/TrEMBL
    Q5DT01
    Conserved Domains (2) summary
    cd03784
    Location:35176
    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:1256
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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
    233691675..233773305
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    234606135..234687812
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)