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

    Gene ID: 54657, updated on 16-Jun-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
    108 current GRCh38.p7 (GCF_000001405.33) 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 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 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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glucuronosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glucuronosyltransferase activity TAS
    Traceable Author Statement
    more info
     
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    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 TAS
    Traceable Author Statement
    more info
     
    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
     
    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 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 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 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)