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B3GAT1 beta-1,3-glucuronyltransferase 1 [Homo sapiens (human) ]

Gene ID: 27087, updated on 8-Mar-2025

In addition, your package will include a detailed data report in both TSV and JSONL formats.

Summary

Official Symbol
B3GAT1provided byHGNC
Official Full Name
beta-1,3-glucuronyltransferase 1provided byHGNC
Primary source
HGNC:HGNC:921
See related
Ensembl:ENSG00000109956MIM:151290;AllianceGenome:HGNC:921
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
NK1; CD57; HNK1; LEU7; NK-1; GLCATP; GLCUATP
Summary
The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 22.6), thyroid (RPKM 2.5) and 2 other tissuesSee more
Orthologs
mouseall
NEW
Try the newGene table
Try the newTranscript table

Genomic context

See B3GAT1 inGenome Data Viewer
Location:
11q25
Exon count:
11
Annotation releaseStatusAssemblyChrLocation
RS_2024_08currentGRCh38.p14 (GCF_000001405.40)11NC_000011.10 (134378504..134412242, complement)
RS_2024_08currentT2T-CHM13v2.0 (GCF_009914755.1)11NC_060935.1 (134420117..134453959, complement)
RS_2024_09previous assemblyGRCh37.p13 (GCF_000001405.25)11NC_000011.9 (134248398..134282136, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to nucleotide:GraphicsFASTAGenBank

Expression

  • 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

Related articles in PubMed

  1. HNK-1 Carrier Glycoproteins Are Decreased in the Alzheimer's Disease Brain. García-Ayllón MS,et al. Mol Neurobiol, 2017 Jan. PMID 26738850
  2. CD57 expression and cytokine production by T cells in lesional and unaffected skin from patients with psoriasis. Batista MD,et al. PLoS One, 2013. PMID 23468834,Free PMC Article
  3. Functional implications of HNK-1 expression on invasive behaviour of melanoma cells. Casado JG,et al. Tumour Biol, 2008. PMID 18802400
  4. CMV latent infection improves CD8+ T response to SEB due to expansion of polyfunctional CD57+ cells in young individuals. Pera A,et al. PLoS One, 2014. PMID 24533103,Free PMC Article
  5. Low proportions of CD28- CD8+ T cells expressing CD57 can be reversed by early ART initiation and predict mortality in treated HIV infection. Lee SA,et al. J Infect Dis, 2014 Aug 1. PMID 24585893,Free PMC Article

See all (70) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Molecular and Cellular Insights: A Focus on Glycans and the HNK1 Epitope in Autism Spectrum Disorder.
    Title: Molecular and Cellular Insights: A Focus on Glycans and the HNK1 Epitope in Autism Spectrum Disorder.
  2. CMV exposure drives long-term CD57+ CD4 memory T-cell inflation following allogeneic stem cell transplant.
    Title: CMV exposure drives long-term CD57+ CD4 memory T-cell inflation following allogeneic stem cell transplant.
  3. MED15, transforming growth factor beta 1 (TGF-beta1), FcgammaRIII (CD16), and HNK-1 (CD57) are prognostic biomarkers of oral squamous cell carcinoma.
    Title: MED15, transforming growth factor beta 1 (TGF-β1), FcγRIII (CD16), and HNK-1 (CD57) are prognostic biomarkers of oral squamous cell carcinoma.
  4. CD57 as a routine neuroendocrine marker for liver metastasis.
    Title: CD57 as a routine neuroendocrine marker for liver metastasis.
  5. Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model.
    Title: Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model.
  6. The study of CD57 antigen in blood lymphocytes is a useful marker that could cooperate in the diagnosis of chronic fatigue syndrome patients.
    Title: Decreased Expression of the CD57 Molecule in T Lymphocytes of Patients with Chronic Fatigue Syndrome.
  7. STAT3 regulates cytotoxicity of human CD57+ CD4+ T cells in blood and lymphoid follicles.
    Title: STAT3 regulates cytotoxicity of human CD57+ CD4+ T cells in blood and lymphoid follicles.
  8. Cellular levels of HNK-1 carrier glycoforms are decreased in the brain of Alzheimer's disease subjects.
    Title: HNK-1 Carrier Glycoproteins Are Decreased in the Alzheimer's Disease Brain.
  9. CD4(+) T cells that coexpress CD57 and CD154, which are exclusively present in cytomegalovirus-positive individuals.
    Title: CMV induces expansion of highly polyfunctional CD4+ T cell subset coexpressing CD57 and CD154.
  10. greater HIV RNA transcription was associated with lower CD57 expression on CD8 T cells. Although causality cannot be inferred from this retrospective study, these results suggest that asymptomatic CMV replication and residual cellular HIV transcription may contribute to persistent immune dysregulation during suppressive ART.
    Title: Brief Report: Effect of CMV and HIV Transcription on CD57 and PD-1 T-Cell Expression During Suppressive ART.

Phenotypes

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
ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

ProteinGeneInteractionPubs
Envelope surface glycoprotein gp120envNK cells that respond with IFN-gamma and TNF-alpha cytokine production to HIV-1 gp120 peptides have reduced CD16 and NKp46 expression and have increased levels of CD57PubMed
VifvifHIV-1 Vif upregulates the expression of beta-1,3-glucuronyltransferase 1 (B3GAT1, glucuronosyltransferase P) in Vif-expression T cellsPubMed

Go to the HIV-1, Human Interaction Database

Interactions

ProductsInteractantOther GeneComplexSourcePubsDescription

General gene information

Markers

Gene OntologyProvided by GOA

FunctionEvidence CodePubs
enables galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ProcessEvidence CodePubs
involved_in carbohydrate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in chondroitin sulfate proteoglycan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
involved_in visual learning IEA
Inferred from Electronic Annotation
more info
 
ComponentEvidence CodePubs
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1
Names
LEU7 antigen
UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase
glucuronosyltransferase P
NP_001354902.1
NP_061114.2
NP_473366.1
XP_011541055.1
XP_016873040.1
XP_024304207.1
XP_047282727.1
XP_047282728.1
XP_047282729.1
XP_054224404.1
XP_054224405.1
XP_054224406.1
XP_054224407.1
XP_054224408.1
XP_054224409.1

NCBI Reference Sequences (RefSeq)

NEWTry the newTranscript 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 inGenomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001367973.1 →NP_001354902.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AI929010, AP003971, BC010466

  2. NM_018644.3 →NP_061114.2  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_061114.2

    Status: REVIEWED

    Source sequence(s)
    AB029396, AF131769, BC010466
    Consensus CDS
    CCDS8500.1
    UniProtKB/Swiss-Prot
    B7Z5Z8,Q96FS7,Q9P2W7
    Related
    ENSP00000376359.1,ENST00000392580.5
    Conserved Domains (1)summary
    pfam03360
    Location:105 →313
    Glyco_transf_43; Glycosyltransferase family 43

  3. NM_054025.3 →NP_473366.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_473366.1

    Status: REVIEWED

    Source sequence(s)
    AP003971, BC010466
    Consensus CDS
    CCDS8500.1
    UniProtKB/Swiss-Prot
    B7Z5Z8,Q96FS7,Q9P2W7
    Related
    ENSP00000307875.4,ENST00000312527.9
    Conserved Domains (1)summary
    pfam03360
    Location:105 →313
    Glyco_transf_43; Glycosyltransferase family 43

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build.Explain

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    134378504..134412242 complement
    Download
    GenBank,FASTA,Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426771.1 →XP_047282727.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X1

  2. XM_047426772.1 →XP_047282728.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X1

  3. XM_017017551.3 →XP_016873040.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9P2W7
    Conserved Domains (1)summary
    pfam03360
    Location:118 →328
    Glyco_transf_43; Glycosyltransferase family 43

  4. XM_047426773.1 →XP_047282729.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X2

    UniProtKB/Swiss-Prot
    B7Z5Z8,Q96FS7,Q9P2W7

  5. XM_024448439.1 →XP_024304207.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X1

    Conserved Domains (1)summary
    pfam03360
    Location:118 →328
    Glyco_transf_43; Glycosyltransferase family 43

  6. XM_011542753.3 →XP_011541055.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011541055.1

    UniProtKB/Swiss-Prot
    Q9P2W7
    Conserved Domains (1)summary
    pfam03360
    Location:118 →328
    Glyco_transf_43; Glycosyltransferase family 43

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    134420117..134453959 complement
    Download
    GenBank,FASTA,Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368429.1 →XP_054224404.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X1

  2. XM_054368430.1 →XP_054224405.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X1

  3. XM_054368431.1 →XP_054224406.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X1

  4. XM_054368434.1 →XP_054224409.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X2

    UniProtKB/Swiss-Prot
    B7Z5Z8,Q96FS7,Q9P2W7

  5. XM_054368432.1 →XP_054224407.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X1

  6. XM_054368433.1 →XP_054224408.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform X1

Related sequences

NucleotideProtein
HeadingAccession and Version
Protein AccessionLinks
GenPept LinkUniProtKB Link
Q9P2W7.2GenPeptUniProtKB/Swiss-Prot:Q9P2W7

Additional links

Gene LinkOut

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

Chemical Information
Molecular Biology Databases

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