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

Gene ID: 133688, updated on 3-Apr-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, Apr 2022]
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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Location:
5p13.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (35951006..36001022, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (36199267..36249286, complement)
105.20220307 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)

Genotypes

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_2023_10

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

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