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    UGT3A1 UDP glycosyltransferase family 3 member A1 [ Homo sapiens (human) ]

    Gene ID: 133688, updated on 27-Nov-2024

    Summary

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    Official Symbol
    UGT3A1provided by HGNC
    Official Full Name
    UDP glycosyltransferase family 3 member A1provided by HGNC
    Primary source
    HGNC:HGNC:26625
    See related
    Ensembl:ENSG00000145626 MIM:616383; AllianceGenome:HGNC:26625
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables glucuronosyltransferase activity. Part of UDP-N-acetylglucosamine transferase complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in kidney (RPKM 14.9), liver (RPKM 11.3) and 3 other tissues See more
    Orthologs
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    Genomic context

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    See UGT3A1 in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (35951006..36001022, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (36199267..36249286, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (35951108..36001124, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22472 Neighboring gene Sharpr-MPRA regulatory region 7574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22474 Neighboring gene calcyphosine like Neighboring gene CAPSL divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:36040865-36041365 Neighboring gene UDP glycosyltransferase family 3 member A2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:36060047-36060547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22475 Neighboring gene LMBR1 domain containing 2 Neighboring gene microRNA 580

    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
    • 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. UDP-Glycosyltransferase 3A Metabolism of Polycyclic Aromatic Hydrocarbons: Potential Importance in Aerodigestive Tract Tissues. Vergara AG, et al. Drug Metab Dispos, 2020 Mar. PMID 31836608, Free PMC Article
    2. UGT3A: novel UDP-glycosyltransferases of the UGT superfamily. Meech R, et al. Drug Metab Rev, 2010 Feb. PMID 19814657
    3. Identification of UDP glycosyltransferase 3A1 as a UDP N-acetylglucosaminyltransferase. Mackenzie PI, et al. J Biol Chem, 2008 Dec 26. PMID 18981171, Free PMC Article
    4. Identification of residues that confer sugar selectivity to UDP-glycosyltransferase 3A (UGT3A) enzymes. Meech R, et al. J Biol Chem, 2012 Jul 13. PMID 22621930, Free PMC Article
    5. An atlas of genetic influences on human blood metabolites. Shin SY, et al. Nat Genet, 2014 Jun. PMID 24816252, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UDP-Glycosyltransferase 3A Metabolism of Polycyclic Aromatic Hydrocarbons: Potential Importance in Aerodigestive Tract Tissues.
      Title: UDP-Glycosyltransferase 3A Metabolism of Polycyclic Aromatic Hydrocarbons: Potential Importance in Aerodigestive Tract Tissues.
    2. An asparagine (Asn-391) in the UGT signature sequence of UGT3A1 is necessary for utilization of UDP-GlcNAc.
      Title: Identification of residues that confer sugar selectivity to UDP-glycosyltransferase 3A (UGT3A) enzymes.
    3. UGT3A1 is involved in drug metabolism and uses UDP N-acetylglucosamine as a sugar donor
      Title: UGT3A: novel UDP-glycosyltransferases of the UGT superfamily.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. UDP glycosyltransferase 3A1 is a UDP N-acetylglucosaminyltransferase
      Title: Identification of UDP glycosyltransferase 3A1 as a UDP N-acetylglucosaminyltransferase.
    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

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ26528, FLJ34658

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-glycosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucuronosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glucuronosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of UDP-N-acetylglucosamine transferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of UDP-N-acetylglucosamine transferase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    UDP-glucuronosyltransferase 3A1
    Names
    UDP glycosyltransferase 3 family, polypeptide A1
    UDPGT 3A1
    NP_001165344.1
    NP_689617.3
    XP_005248300.1
    XP_011512259.1
    XP_011512260.1
    XP_011512261.1
    XP_047272663.1
    XP_047272664.1
    XP_047272665.1
    XP_047272666.1
    XP_054207571.1
    XP_054207572.1
    XP_054207573.1
    XP_054207574.1
    XP_054207575.1
    XP_054207576.1
    XP_054207577.1
    XP_054207578.1

    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_001171873.2 → NP_001165344.1  UDP-glucuronosyltransferase 3A1 isoform 2

      See identical proteins and their annotated locations for NP_001165344.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences, compared to variant 1. These differences result in distinct 5' UTR and 3' UTRs, cause translation initiation at a downstream start codon and result in a frameshift and an early stop codon, compared to variant 1. The encoded isoform has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC016612, BC035012
      Consensus CDS
      CCDS54841.1
      Related
      ENSP00000487376.1, ENST00000625798.2
      Conserved Domains (1) summary
      pfam00201
      Location:26 → 227
      UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

    2. NM_152404.4 → NP_689617.3  UDP-glucuronosyltransferase 3A1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_689617.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC112204, AI244517, AK315851
      Consensus CDS
      CCDS3913.1
      UniProtKB/Swiss-Prot
      G5E961, Q6NUS8, Q8IYS9, Q8NAW4, Q96DM6
      UniProtKB/TrEMBL
      A8K444, B7Z8Q8
      Related
      ENSP00000274278.3, ENST00000274278.8
      Conserved Domains (1) summary
      cl26154
      Location:23 → 523
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      35951006..36001022 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416709.1 → XP_047272665.1  UDP-glucuronosyltransferase 3A1 isoform X5

    2. XM_047416708.1 → XP_047272664.1  UDP-glucuronosyltransferase 3A1 isoform X4

    3. XM_011513957.3 → XP_011512259.1  UDP-glucuronosyltransferase 3A1 isoform X2

      Conserved Domains (2) summary
      PHA03392
      Location:191 → 466
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      COG1819
      Location:46 → 438
      YjiC; UDP:flavonoid glycosyltransferase YjiC, YdhE family [Carbohydrate transport and metabolism]

    4. XM_047416707.1 → XP_047272663.1  UDP-glucuronosyltransferase 3A1 isoform X1

    5. XM_011513959.3 → XP_011512261.1  UDP-glucuronosyltransferase 3A1 isoform X4

      See identical proteins and their annotated locations for XP_011512261.1

      UniProtKB/TrEMBL
      B7Z8Q8
      Conserved Domains (2) summary
      PHA03392
      Location:168 → 443
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      COG1819
      Location:23 → 415
      YjiC; UDP:flavonoid glycosyltransferase YjiC, YdhE family [Carbohydrate transport and metabolism]

    6. XM_011513958.3 → XP_011512260.1  UDP-glucuronosyltransferase 3A1 isoform X3

      UniProtKB/TrEMBL
      E9PD17
      Related
      ENSP00000426100.1, ENST00000507113.5
      Conserved Domains (2) summary
      PHA03392
      Location:188 → 463
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      COG1819
      Location:43 → 435
      YjiC; UDP:flavonoid glycosyltransferase YjiC, YdhE family [Carbohydrate transport and metabolism]

    7. XM_005248243.5 → XP_005248300.1  UDP-glucuronosyltransferase 3A1 isoform X4

      See identical proteins and their annotated locations for XP_005248300.1

      UniProtKB/TrEMBL
      B7Z8Q8
      Conserved Domains (2) summary
      PHA03392
      Location:168 → 443
      egt; ecdysteroid UDP-glucosyltransferase; Provisional
      COG1819
      Location:23 → 415
      YjiC; UDP:flavonoid glycosyltransferase YjiC, YdhE family [Carbohydrate transport and metabolism]

    8. XM_047416710.1 → XP_047272666.1  UDP-glucuronosyltransferase 3A1 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      36199267..36249286 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351602.1 → XP_054207577.1  UDP-glucuronosyltransferase 3A1 isoform X5

    2. XM_054351601.1 → XP_054207576.1  UDP-glucuronosyltransferase 3A1 isoform X4

    3. XM_054351597.1 → XP_054207572.1  UDP-glucuronosyltransferase 3A1 isoform X2

    4. XM_054351596.1 → XP_054207571.1  UDP-glucuronosyltransferase 3A1 isoform X1

    5. XM_054351599.1 → XP_054207574.1  UDP-glucuronosyltransferase 3A1 isoform X4

    6. XM_054351598.1 → XP_054207573.1  UDP-glucuronosyltransferase 3A1 isoform X3

    7. XM_054351600.1 → XP_054207575.1  UDP-glucuronosyltransferase 3A1 isoform X4

    8. XM_054351603.1 → XP_054207578.1  UDP-glucuronosyltransferase 3A1 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NUS8.1 GenPept UniProtKB/Swiss-Prot:Q6NUS8

    Gene LinkOut

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

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