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

Gene ID: 10941, updated on 2-Nov-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: 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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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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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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