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

    Gene ID: 27087, updated on 2-Nov-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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    See B3GAT1 in Genome Data Viewer
    Location:
    11q25
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (134378504..134412242, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (134420117..134453959, complement)
    RS_2024_09 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 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. 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.
    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)

    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_2024_08

    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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