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    B4GALNT3 beta-1,4-N-acetyl-galactosaminyltransferase 3 [ Homo sapiens (human) ]

    Gene ID: 283358, updated on 10-Dec-2024

    Summary

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    Official Symbol
    B4GALNT3provided by HGNC
    Official Full Name
    beta-1,4-N-acetyl-galactosaminyltransferase 3provided by HGNC
    Primary source
    HGNC:HGNC:24137
    See related
    Ensembl:ENSG00000139044 MIM:612220; AllianceGenome:HGNC:24137
    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
    B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]
    Expression
    Biased expression in stomach (RPKM 33.1), colon (RPKM 16.3) and 11 other tissues See more
    Orthologs
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    Genomic context

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    See B4GALNT3 in Genome Data Viewer
    Location:
    12p13.33
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (459939..563509)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (455476..559474)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (569105..672675)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:415875-417074 Neighboring gene lysine demethylase 5A Neighboring gene Sharpr-MPRA regulatory region 4015 Neighboring gene uncharacterized LOC105369594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5778 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:511068-511620 Neighboring gene Sharpr-MPRA regulatory region 4380 Neighboring gene coiled-coil domain containing 77 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:568273-569256 Neighboring gene uncharacterized LOC124902853 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:610726-611441 Neighboring gene uncharacterized LOC124902852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:618531-619104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:619948-620594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:643601-644100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:647445-648174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:648175-648904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:651093-651821 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:651822-652550 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:655449-655983 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:671915-672416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:674581-675082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:675083-675582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:681299-681927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:685261-685762 Neighboring gene Sharpr-MPRA regulatory region 2537 Neighboring gene uncharacterized LOC105369595 Neighboring gene ninjurin 2 Neighboring gene RNA, U7 small nuclear 103 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. LacdiNAc synthase B4GALNT3 has a unique PA14 domain and suppresses N-glycan capping. Tokoro Y, et al. J Biol Chem, 2024 Jul. PMID 38844136, Free PMC Article
    2. β1, 4-N-acetylgalactosaminyltransferase III modulates cancer stemness through EGFR signaling pathway in colon cancer cells. Che MI, et al. Oncotarget, 2014 Jun 15. PMID 25003232, Free PMC Article
    3. Apical Golgi localization of N,N'-diacetyllactosediamine synthase, beta4GalNAc-T3, is responsible for LacdiNAc expression on gastric mucosa. Ikehara Y, et al. Glycobiology, 2006 Sep. PMID 16728562
    4. New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma. Costa V, et al. Oncotarget, 2015 May 10. PMID 25803323, Free PMC Article
    5. A necessary and sufficient determinant for protein-selective glycosylation in vivo. Miller E, et al. J Biol Chem, 2008 Jan 25. PMID 18048353

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LacdiNAc synthase B4GALNT3 has a unique PA14 domain and suppresses N-glycan capping.
      Title: LacdiNAc synthase B4GALNT3 has a unique PA14 domain and suppresses N-glycan capping.
    2. Identify a new chimeric transcript generated by the fusion of WNK1 and B4GALNT3 genes, correlated with B4GALNT3 overexpression papillary thyroid carcinoma.
      Title: New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma.
    3. Data suggest B4GALNT3 regulates cancer stemness and the invasive properties of colon cancer cells through modifying EGFR glycosylation and signaling.
      Title: β1, 4-N-acetylgalactosaminyltransferase III modulates cancer stemness through EGFR signaling pathway in colon cancer cells.
    4. Peptide-specific transfer of N-acetylgalactosamine to O-linked glycans by the glycosyltransferases beta1,4-N-acetylgalactosaminyl transferase 3 (beta4GalNAc-T3) and beta4GalNAc-T4.
      Title: Peptide-specific transfer of N-acetylgalactosamine to O-linked glycans by the glycosyltransferases β1,4-N-acetylgalactosaminyl transferase 3 (β4GalNAc-T3) and β4GalNAc-T4.
    5. Molecular basis for protein-specific transfer of N-acetylgalactosamine to N-linked glycans by the glycosyltransferases beta1,4-N-acetylgalactosaminyl transferase 3 (beta4GalNAc-T3) and beta4GalNAc-T4.
      Title: Molecular basis for protein-specific transfer of N-acetylgalactosamine to N-linked glycans by the glycosyltransferases β1,4-N-acetylgalactosaminyl transferase 3 (β4GalNAc-T3) and β4GalNAc-T4.
    6. 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.
    7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest.
    8. supra-nuclear expression of beta4GalNAc-T3 is essential for the formation of LacdiNAc on the surface mucous cells and that LacdiNAc and beta4GalNAc-T3 are novel differentiation markers of surface mucous cells in the gastric mucosa.
      Title: Apical Golgi localization of N,N'-diacetyllactosediamine synthase, beta4GalNAc-T3, is responsible for LacdiNAc expression on gastric mucosa.
    9. betaGT3 and betaGT4, that are able to transfer GalNAc to GlcNAc in beta1,4-linkage display the necessary glycoprotein specificity in vivo.
      Title: A necessary and sufficient determinant for protein-selective glycosylation in vivo.
    10. up-regulation of beta4GalNAc-T3 may play a critical role in promoting tumor malignanc
      Title: Beta1,4-N-acetylgalactosaminyltransferase III enhances malignant phenotypes of colon cancer cells.
    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

    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

    Potential readthrough

    Included gene: CCDC77

    Homology

    Clone Names

    • FLJ16224, FLJ40362

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables acetylgalactosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acetylgalactosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    beta-1,4-N-acetylgalactosaminyltransferase 3
    Names
    B4GalNAcT3
    Beta4GalNAc-T3
    N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase
    N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2
    NGalNAc-T2
    beta-1,4-N-acetyl-galactosaminyl transferase 3
    beta-1,4-N-acetylgalactosaminyltransferase III
    beta4GalNAcT3
    NP_775864.3

    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_173593.4 → NP_775864.3  beta-1,4-N-acetylgalactosaminyltransferase 3

      See identical proteins and their annotated locations for NP_775864.3

      Status: VALIDATED

      Source sequence(s)
      AB089940, AC005844, AC006205, AK093503, AK131277, CN400443
      Consensus CDS
      CCDS8504.1
      UniProtKB/Swiss-Prot
      Q6L9W6, Q6ZNC1, Q8N7T6
      Related
      ENSP00000266383.5, ENST00000266383.10
      Conserved Domains (2) summary
      pfam07691
      Location:143 → 277
      PA14; PA14 domain
      cl11394
      Location:788 → 984
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      459939..563509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      455476..559474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6L9W6.2 GenPept UniProtKB/Swiss-Prot:Q6L9W6

    Gene LinkOut

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

    Chemical Information
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