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    UGT2A1 UDP glucuronosyltransferase family 2 member A1 complex locus [ Homo sapiens (human) ]

    Gene ID: 10941, updated on 10-Dec-2024

    Summary

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    Official Symbol
    UGT2A1provided by HGNC
    Official Full Name
    UDP glucuronosyltransferase family 2 member A1 complex locusprovided by HGNC
    Primary source
    HGNC:HGNC:12542
    See related
    Ensembl:ENSG00000173610 MIM:604716; AllianceGenome:HGNC:12542
    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
    UDPGT2A1
    Summary
    The protein encoded by this gene belongs to the UDP-glycosyltransferase family. Members of this protein family play a role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The encoded enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. Polymorphisms in this gene may be associated with the loss of taste and smell that is reported by some individuals during SARS-CoV-2 infection. [provided by RefSeq, Jan 2022]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
    Expression
    Biased expression in kidney (RPKM 2.3), liver (RPKM 2.2) and 1 other tissue See more
    Orthologs
    all
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    Genomic context

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    See UGT2A1 in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (69588417..69653247, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (72923224..72988049, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (70454135..70518965, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene UDP glucuronosyltransferase family 2 member B4 Neighboring gene UDP glucuronosyltransferase family 2 member A3 pseudogene 7 Neighboring gene MPRA-validated peak5054 silencer Neighboring gene UDP glucuronosyltransferase family 2 member B7 pseudogene Neighboring gene MPRA-validated peak5055 silencer Neighboring gene UDP glucuronosyltransferase family 2 member A2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:70522042-70523241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:70608551-70609050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:70609253-70609754 Neighboring gene sulfotransferase family 1B member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:70609755-70610254 Neighboring gene sulfotransferase family 1D member 1, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Expression of xenobiotic metabolizing enzymes in different lung compartments of smokers and nonsmokers. Thum T, et al. Environ Health Perspect, 2006 Nov. PMID 17107849, Free PMC Article
    2. A comparison of the expression and metabolizing activities of phase I and II enzymes in freshly isolated human lung parenchymal cells and cryopreserved human hepatocytes. Somers GI, et al. Drug Metab Dispos, 2007 Oct. PMID 17627976
    3. UDP-glucuronosyltransferases (UGTs) 2B7 and UGT2B17 display converse specificity in testosterone and epitestosterone glucuronidation, whereas UGT2A1 conjugates both androgens similarly. Sten T, et al. Drug Metab Dispos, 2009 Feb. PMID 19022937
    4. A high throughput assay for the glucuronidation of 7-hydroxy-4-trifluoromethylcoumarin by recombinant human UDP-glucuronosyltransferases and liver microsomes. Rahikainen T, et al. Xenobiotica, 2013 Oct. PMID 23551063
    5. Albumin stimulates the activity of the human UDP-glucuronosyltransferases 1A7, 1A8, 1A10, 2A1 and 2B15, but the effects are enzyme and substrate dependent. Manevski N, et al. PLoS One, 2013. PMID 23372764, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The UGT2A1/UGT2A2 locus is associated with COVID-19-related loss of smell or taste.
      Title: The UGT2A1/UGT2A2 locus is associated with COVID-19-related loss of smell or taste.
    2. Regulation of UGT2A1 by miR-196a-5p and miR-196b-5p
      Title: Regulation of UGT2A1 by miR-196a-5p and miR-196b-5p.
    3. association of SNPs of PEAR1, P2Y12, and UGT2A1 with platelet reactivity in 290 Chinese patients with acute coronary syndrome treated with aspirin and clopidogrel
      Title: Study of the Association of PEAR1, P2Y12, and UGT2A1 Polymorphisms with Platelet Reactivity in Response to Dual Antiplatelet Therapy in Chinese Patients.
    4. The Km values of UGT2A1 varied between 102.2 +/- 14.3 microM and 2.4 +/- 1.2 mM.
      Title: The Human UDP-glucuronosyltransferase UGT2A1 and UGT2A2 enzymes are highly active in bile acid glucuronidation.
    5. Expression of novel UDP-glucuronosyltransferase 2A1 splice variant could play an important role in the detoxification of carcinogens within target tissues for tobacco carcinogenesis.
      Title: Identification and functional characterization of a novel UDP-glucuronosyltransferase 2A1 splice variant: potential importance in tobacco-related cancer susceptibility.
    6. Results show that UGT2A2 not only shares exons 2-6 with UGT2A1, it also shares with it a similar tissue expression pattern; both UGTs are primarily expressed in nasal epithelium. The 3rd member of UGT2A subfamily, UGT2A3 exhibited a different tissue expression pattern, found mainly in liver and small intestine.
      Title: Human UDP-glucuronosyltransferase UGT2A2: cDNA construction, expression, and functional characterization in comparison with UGT2A1 and UGT2A3.
    7. UGT2A1 is an important detoxification enzyme in the metabolism of polycyclic aromatic hydrocarbons.
      Title: Characterization of UDP-glucuronosyltransferase 2A1 (UGT2A1) variants and their potential role in tobacco carcinogenesis.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.
    9. Single-nucleotide polymorphisms (SNPs) were found in UGT2A1 gene
      Title: Catalog of 86 single-nucleotide polymorphisms (SNPs) in three uridine diphosphate glycosyltransferase genes: UGT2A1, UGT2B15, and UGT8.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 glucuronosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glucuronosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in bile acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 sensory perception of chemical stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sensory perception of smell IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    UDP-glucuronosyltransferase 2A1
    Names
    UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus
    UDP glycosyltransferase 2 family, polypeptide A1
    uridine diphosphate glycosyltransferase 2 family, member A1
    NP_001239203.2
    NP_001239204.2
    NP_001288168.1
    NP_001376494.1
    NP_006789.3

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001252274.3 → NP_001239203.2  UDP-glucuronosyltransferase 2A1 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AK304249, AK314209, BC142640, BE463677
      Consensus CDS
      CCDS58902.1
      UniProtKB/TrEMBL
      A0A140T9Z0
      Related
      ENSP00000425497.1, ENST00000514019.1
      Conserved Domains (2) summary
      PHA03392
      Location:496 → 670
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      pfam00201
      Location:237 → 681
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    2. NM_001252275.3 → NP_001239204.2  UDP-glucuronosyltransferase 2A1 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AK304249, AK314209, BC142640, BE463677
      Consensus CDS
      CCDS58901.1
      UniProtKB/Swiss-Prot
      B4E2F4, D3GER1, D3GER2, E9PDM7, J3KNA3, P0DTE4, Q9Y4X1
      Related
      ENSP00000286604.4, ENST00000286604.9
      Conserved Domains (3) summary
      PHA03392
      Location:330 → 504
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      pfam00201
      Location:21 → 515
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
      pfam13900
      Location:253 → 289
      GVQW; Putative domain of unknown function

    3. NM_001301239.2 → NP_001288168.1  UDP-glucuronosyltransferase 2A1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC093829, KF457774
      Consensus CDS
      CCDS77925.1
      UniProtKB/TrEMBL
      D6RFW5
      Related
      ENSP00000421432.1, ENST00000512704.5
      Conserved Domains (2) summary
      PHA03392
      Location:286 → 460
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      pfam00201
      Location:21 → 471
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    4. NM_001389565.1 → NP_001376494.1  UDP-glucuronosyltransferase 2A1 isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC093829, KF457774
      Conserved Domains (1) summary
      pfam00201
      Location:237 → 725
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    5. NM_006798.5 → NP_006789.3  UDP-glucuronosyltransferase 2A1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_006789.3

      Status: REVIEWED

      Source sequence(s)
      AJ006054, AK304249, AK314209, BC142640, BE463677
      Consensus CDS
      CCDS3529.1
      UniProtKB/Swiss-Prot
      Q9Y4X1
      Related
      ENSP00000424478.1, ENST00000503640.5
      Conserved Domains (2) summary
      PHA03392
      Location:266 → 504
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      pfam00201
      Location:21 → 515
      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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      69588417..69653247 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      72923224..72988049 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DTE4.2 GenPept UniProtKB/Swiss-Prot:P0DTE4

    Gene LinkOut

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