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

Gene ID: 27087, updated on 5-Mar-2024

Summary

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Official Symbol
B3GAT1provided by HGNC
Official Full Name
beta-1,3-glucuronyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:921
See related
Ensembl:ENSG00000109956 MIM: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 tissues See more
Orthologs
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Genomic context

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Location:
11q25
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (134378504..134412242, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (134420117..134453959, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (134248398..134282136, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4099 Neighboring gene galactosidase beta 1 like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134228611-134229134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134246355-134247254 Neighboring gene uncharacterized LOC124902798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134263326-134264156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:134267481-134268340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134274303-134274804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134280725-134281284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134295447-134295948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134295949-134296448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134308936-134309436 Neighboring gene B3GAT1 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134335892-134336457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134336458-134337022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134343630-134344329 Neighboring gene MPRA-validated peak1527 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134378035-134378536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134379262-134379791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134379792-134380320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134386567-134387092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134397395-134397896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134406331-134406830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134410956-134411456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134411457-134411957 Neighboring gene uncharacterized LOC124902799

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. CD57 as a routine neuroendocrine marker for liver metastasis. Caroli-Bottino A, et al. Indian J Pathol Microbiol, 2020 Jan-Mar. PMID 32031120
  2. Decreased Expression of the CD57 Molecule in T Lymphocytes of Patients with Chronic Fatigue Syndrome. Espinosa P, et al. Mol Neurobiol, 2019 Sep. PMID 30895436
  3. Brief Report: Effect of CMV and HIV Transcription on CD57 and PD-1 T-Cell Expression During Suppressive ART. Dan JM, et al. J Acquir Immune Defic Syndr, 2016 Jun 1. PMID 26818740, Free PMC Article
  4. HNK-1 Carrier Glycoproteins Are Decreased in the Alzheimer's Disease Brain. García-Ayllón MS, et al. Mol Neurobiol, 2017 Jan. PMID 26738850
  5. Increase of peripheral blood CD57+ T-cells in patients with oral squamous cell carcinoma. Iida M, et al. Anticancer Res, 2014 Oct. PMID 25275081

See all (68) 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.
Submit: New GeneRIF Correction See all GeneRIFs (54)

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
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

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env NK 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 CD57 PubMed
Vif vif HIV-1 Vif upregulates the expression of beta-1,3-glucuronyltransferase 1 (B3GAT1, glucuronosyltransferase P) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

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 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 
Process Evidence Code Pubs
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 glycosaminoglycan biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
  
involved_in visual learning IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
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

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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)

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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_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_2023_10

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2W7.2 GenPept UniProtKB/Swiss-Prot:Q9P2W7

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