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

    Gene ID: 54578, updated on 26-Jun-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 Epigenomics, 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 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

    Markers

    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 glucuronosyltransferase 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)