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

    Gene ID: 283358, updated on 11-Jun-2021

    Summary

    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
    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
    NEW
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    Genomic context

    See B4GALNT3 in Genome Data Viewer
    Location:
    12p13.33
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (459939..563509)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (569105..672675)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369594 Neighboring gene Sharpr-MPRA regulatory region 4380 Neighboring gene coiled-coil domain containing 77 Neighboring gene uncharacterized LOC105369595 Neighboring gene ninjurin 2 Neighboring gene RNA, U7 small nuclear 103 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: CCDC77

    Homology

    Clone Names

    • FLJ16224, FLJ40362

    Gene Ontology Provided by GOA

    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 integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    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_173593.4NP_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
      UniProtKB/TrEMBL
      Q8N9V0
      Related
      ENSP00000266383.5, ENST00000266383.10
      Conserved Domains (2) summary
      pfam07691
      Location:143277
      PA14; PA14 domain
      cl11394
      Location:788984
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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