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

    Gene ID: 54658, updated on 23-Nov-2023

    Summary

    Official Symbol
    UGT1A1provided by HGNC
    Official Full Name
    UDP glucuronosyltransferase family 1 member A1provided by HGNC
    Primary source
    HGNC:HGNC:12530
    See related
    Ensembl:ENSG00000241635 MIM:191740; AllianceGenome:HGNC:12530
    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]
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See UGT1A1 in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (233760270..233773300)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (234248901..234261929)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234668916..234681946)

    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 A8 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 UDP glucuronosyltransferase family 1 member A4 Neighboring gene UDP glucuronosyltransferase family 1 member A3 Neighboring gene DnaJ heat shock protein family (Hsp40) member B3 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:234668353-234668527 Neighboring gene UDP glucuronosyltransferase family 1 member A2, pseudogene Neighboring gene maestro heat like repeat family member 2A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234731477-234731977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234759038-234759538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:234763063-234764055 Neighboring gene Holliday junction recognition protein

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Atazanavir response
    MedGen: CN417141 GeneReviews: Not available
    Compare labs
    Belinostat response
    MedGen: CN282543 GeneReviews: Not available
    Compare labs
    Bilirubin, serum level of, quantitative trait locus 1
    MedGen: C1866173 OMIM: 601816 GeneReviews: Not available
    Compare labs
    Crigler-Najjar syndrome type 1
    MedGen: C0010324 OMIM: 218800 GeneReviews: Not available
    Compare labs
    Crigler-Najjar syndrome, type II
    MedGen: C2931132 OMIM: 606785 GeneReviews: Not available
    Compare labs
    Gilbert syndrome
    MedGen: C0017551 OMIM: 143500 GeneReviews: Not available
    Compare labs
    Irinotecan response
    MedGen: CN077989 GeneReviews: Not available
    Compare labs
    Lucey-Driscoll syndrome
    MedGen: C0270210 OMIM: 237900 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide assessment of variability in human serum metabolism.
    EBI GWAS Catalog
    A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.
    EBI GWAS 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.
    EBI GWAS Catalog
    A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Association of SNPs in the UGT1A gene cluster with total bilirubin and mortality in the Diabetes Heart Study.
    EBI GWAS Catalog
    Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genetic determinants influencing human serum metabolome among African Americans.
    EBI GWAS Catalog
    Genome-wide analysis of hepatic lipid content in extreme obesity.
    EBI GWAS Catalog
    Genome-wide association meta-analysis for total serum bilirubin levels.
    EBI GWAS Catalog
    Genome-wide association of serum bilirubin levels in Korean population.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog
    Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.
    EBI GWAS Catalog
    UGT1A1 is a major locus influencing bilirubin levels in African Americans.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables enzyme inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glucuronosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glucuronosyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables retinoic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables steroid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acute-phase response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in animal organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bilirubin conjugation TAS
    Traceable Author Statement
    more info
     
    involved_in biphenyl catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular glucuronidation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular glucuronidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular glucuronidation TAS
    Traceable Author Statement
    more info
     
    involved_in cellular response to estradiol stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to glucocorticoid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in estrogen metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in flavone metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in flavonoid glucuronidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in heterocycle metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of steroid metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinoic acid metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in steroid metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in xenobiotic glucuronidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in xenobiotic metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    part_of cytochrome complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of endoplasmic reticulum chaperone complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    UDP-glucuronosyltransferase 1A1
    Names
    UDP glucuronosyltransferase 1 family, polypeptide A1
    UDP glycosyltransferase 1 family, polypeptide A1
    UDP-glucuronosyltransferase 1-A
    UDP-glucuronosyltransferase 1A
    UGT-1A
    UGT1*1
    UGT1-01
    UGT1.1
    bilirubin UDP-glucuronosyltranserase
    bilirubin UDP-glucuronosyltransferase 1-1
    bilirubin UDP-glucuronosyltransferase isozyme 1
    bilirubin-specific UDPGT isozyme 1
    NP_000454.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      175530..188556
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    2. NG_033238.1 RefSeqGene

      Range
      5001..18027
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_733

    mRNA and Protein(s)

    1. NM_000463.3NP_000454.1  UDP-glucuronosyltransferase 1A1 precursor

      See identical proteins and their annotated locations for NP_000454.1

      Status: REVIEWED

      Source sequence(s)
      AC006985, AY435136, M57899
      Consensus CDS
      CCDS2510.1
      UniProtKB/Swiss-Prot
      A6NJC3, B8K286, P22309
      UniProtKB/TrEMBL
      I6U9T8, I6UJG0, I6VBT8, I6VBU3, I6VE22, I6VE27, I6VE32, Q5DT03
      Related
      ENSP00000304845.5, ENST00000305208.10
      Conserved Domains (1) summary
      pfam00201
      Location:28524
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      233760270..233773300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      234248901..234261929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)