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

    Gene ID: 54658, updated on 19-May-2013
    Official Symbol
    UGT1A1provided by HGNC
    Official Full Name
    UDP glucuronosyltransferase 1 family, polypeptide A1provided by HGNC
    Primary source
    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]
    Location :
    2q37
    Sequence :
    Chromosome: 2; NC_000002.11 (234668919..234681945)
    See UGT1A1 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic 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 (Hsp40) homolog, subfamily B, member 3 pseudogene 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 Functions What's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000454.1     BIND  PubMed UGT1A1 interacts with 5-hydroxyrofecoxib. 
    BioGRID:120087 BioGRID:114251 B3GALT1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:120087 BioGRID:116495 COPZ1    BioGRID  PubMed Protein-peptide 
    BioGRID:120087 BioGRID:115746 SEC23B    BioGRID  PubMed Protein-peptide 
    BioGRID:120087 BioGRID:113205 UGDH    BioGRID  PubMed Two-hybrid 

    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 IPI
    Inferred from Physical Interaction
    more info
     
    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 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 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 membrane TAS
    Traceable Author Statement
    more info
     
    integral to 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_033238.1 RefSeqGene

      Range
      5001..18027
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    2. NG_002601.2 RefSeqGene

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

    mRNA and Protein(s)

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

      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
      Blast Score: 313
      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
      Blast Score: 2197
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p10 Primary Assembly

      Range
      234668919..234681945
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

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

    Alternate CHM1_1.0

    Genomic

    1. NC_018913.1 Alternate CHM1_1.0

      Range
      234041550..234054578
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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