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    UGT1A8 UDP glucuronosyltransferase family 1 member A8 [ Homo sapiens (human) ]

    Gene ID: 54576, updated on 2-Nov-2024

    Summary

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    Official Symbol
    UGT1A8provided by HGNC
    Official Full Name
    UDP glucuronosyltransferase family 1 member A8provided by HGNC
    Primary source
    HGNC:HGNC:12540
    See related
    Ensembl:ENSG00000242366 MIM:606433; AllianceGenome:HGNC:12540
    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; UGT1H; UGT-1A; UGT-1H; UGT1.1; UGT1.8; UGT1A1; UGT1-01; UGT1-08; UGT1A8S; hUG-BR1; UDPGT 1-1; UDPGT 1-8
    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 has glucuronidase activity with many substrates including coumarins, phenols, anthraquinones, flavones, and some opioids. [provided by RefSeq, Jul 2008]
    Orthologs
    all
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    Genomic context

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    See UGT1A8 in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (233617633..233773300)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (234106275..234261929)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234526279..234681946)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17350 Neighboring gene UDP glucuronosyltransferase family 1 member A12, pseudogene 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 A10 Neighboring gene UDP glucuronosyltransferase family 1 member A13, pseudogene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:234599674-234600281 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:234600282-234600888 Neighboring gene UDP glucuronosyltransferase family 1 member A9 Neighboring gene UDP glucuronosyltransferase family 1 member A7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234621256-234621756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234621757-234622257 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 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 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 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Glucuronidation of anabolic androgenic steroids by recombinant human UDP-glucuronosyltransferases. Kuuranne T, et al. Drug Metab Dispos, 2003 Sep. PMID 12920167
    2. Troglitazone glucuronidation in human liver and intestine microsomes: high catalytic activity of UGT1A8 and UGT1A10. Watanabe Y, et al. Drug Metab Dispos, 2002 Dec. PMID 12433820
    3. In Vitro Study on Influences of UGT1A8 Gene Polymorphisms on Mycophenolate Mofetil Metabolism. Zhou Z, et al. Exp Clin Transplant, 2018 Aug. PMID 29025387
    4. Species- and gender-dependent differences in the glucuronidation of a flavonoid glucoside and its aglycone determined using expressed UGT enzymes and microsomes. Dai P, et al. Biopharm Drug Dispos, 2015 Dec. PMID 26317684
    5. Identification and functional characterization of UDP-glucuronosyltransferases UGT1A8*1, UGT1A8*2 and UGT1A8*3. Huang YH, et al. Pharmacogenetics, 2002 Jun. PMID 12042666

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The function of uterine UDP-glucuronosyltransferase 1A8 (UGT1A8) and UDP-glucuronosyltransferase 2B7 (UGT2B7) is involved in endometrial cancer based on estrogen metabolism regulation.
      Title: The function of uterine UDP-glucuronosyltransferase 1A8 (UGT1A8) and UDP-glucuronosyltransferase 2B7 (UGT2B7) is involved in endometrial cancer based on estrogen metabolism regulation.
    2. studies lead to a model for the developmental patterning of UGT1A8, UGT1A9, and UGT1A10 in hepatic and/or extrahepatic tissues involving discrete regulatory modules that may function (independently and cooperatively) in a context-dependent manner
      Title: Cooperative Regulation of Intestinal UDP-Glucuronosyltransferases 1A8, -1A9, and 1A10 by CDX2 and HNF4α Is Mediated by a Novel Composite Regulatory Element.
    3. UGT1A8 gene polymorphisms can affect the activity of UDP glucuronosyltransferase enzyme, which may influence the elimination of mycophenolate mofetil in different patients.
      Title: In Vitro Study on Influences of UGT1A8 Gene Polymorphisms on Mycophenolate Mofetil Metabolism.
    4. Polymorphism of UGT1A8 rs1042597-G variant allele is associated with colorectal cancer.
      Title: Common variants in glucuronidation enzymes and membrane transporters as potential risk factors for colorectal cancer: a case control study.
    5. the in vitro glucuronidation of raloxifene in humans and monkeys was examined using liver and intestinal microsomes and recombinant UGT enzymes (UGT1A1, UGT1A8 and UGT1A9).
      Title: Raloxifene glucuronidation in liver and intestinal microsomes of humans and monkeys: contribution of UGT1A1, UGT1A8 and UGT1A9.
    6. Data suggest UGT1A8 is involved in differential metabolism of dietary flavonoids (glucosides and aglycones); glucuronidation of flavonoid glucosides is considerably slower than glucuronidation of flavonoid aglycones in microsomes of intestine/liver.
      Title: Species- and gender-dependent differences in the glucuronidation of a flavonoid glucoside and its aglycone determined using expressed UGT enzymes and microsomes.
    7. Genetic polymorphisms of UGT1A8, UGT1A9 and HNF-1alpha and gastrointestinal symptoms in renal transplant recipients taking mycophenolic acid.
      Title: Genetic polymorphisms of UGT1A8, UGT1A9 and HNF-1α and gastrointestinal symptoms in renal transplant recipients taking mycophenolic acid.
    8. UGT1A8 Polymorphism is associated with response to raloxifene in breast cancer.
      Title: Characterization of raloxifene glucuronidation: potential role of UGT1A8 genotype on raloxifene metabolism in vivo.
    9. A much higher frequency of UGT1A8*2 variant allele was found in Chinese than in Caucasians and Africans
      Title: Genetic polymorphisms of UGT1A8, UGT1A9, UGT2B7 and ABCC2 in Chinese renal transplant recipients and a comparison with other ethnic populations.
    10. The UGT1A8 and UGT2B4 genotypes associated with decreased predicted enzyme activities, were significantly associated with an increased risk of esophageal squamous cell carcinoma.
      Title: High enzyme activity UGT1A1 or low activity UGT1A8 and UGT2B4 genotypes increase esophageal cancer risk.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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
    A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
    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
    Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.
    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
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 enzyme inhibitor activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables fatty acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucuronosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT enables glucuronosyltransferase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables retinoic acid binding IC
    Inferred by Curator
    more info
    		 PubMed 
    enables steroid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 coumarin metabolic process IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in fatty acid metabolic process IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in fatty acid 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 liver development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cellular glucuronidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of fatty acid metabolic process IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in negative regulation of fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of steroid metabolic process IC
    Inferred by Curator
    more info
    		 PubMed 
    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 steroid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in xenobiotic glucuronidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT involved_in xenobiotic metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in xenobiotic metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 
    located_in endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT located_in endoplasmic reticulum membrane IKR
    Inferred from Key Residues
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    UDP-glucuronosyltransferase 1A8
    Names
    Bilirubin-specific UDPGT isozyme 1
    UDP glucuronosyltransferase 1 family, polypeptide A8
    UDP glycosyltransferase 1 family, polypeptide A8
    UDP-glucuronosyltransferase 1 family polypeptide A8s
    UDP-glucuronosyltransferase 1-1
    UDP-glucuronosyltransferase 1-8
    UDP-glucuronosyltransferase 1-A
    UDP-glucuronosyltransferase 1-H
    UDP-glucuronosyltransferase 1A1
    NP_061949.3

    NCBI Reference Sequences (RefSeq)

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    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
      32902..188556
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_019076.5 → NP_061949.3  UDP-glucuronosyltransferase 1A8 precursor

      See identical proteins and their annotated locations for NP_061949.3

      Status: REVIEWED

      Source sequence(s)
      AC006985, AC019072
      Consensus CDS
      CCDS33402.1
      UniProtKB/Swiss-Prot
      B2R8S3, B8K290, O14928, Q8TEX4, Q8WTQ9, Q8WX85, Q9HAW9
      UniProtKB/TrEMBL
      Q5DSZ6
      Related
      ENSP00000362549.4, ENST00000373450.5
      Conserved Domains (1) summary
      pfam00201
      Location:26 → 521
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      233617633..233773300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      234106275..234261929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HAW9.1 GenPept UniProtKB/Swiss-Prot:Q9HAW9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Miscellaneous