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    B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 [ Homo sapiens (human) ]

    Gene ID: 192134, updated on 27-Nov-2024

    Summary

    Official Symbol
    B3GNT6provided by HGNC
    Official Full Name
    UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6provided by HGNC
    Primary source
    HGNC:HGNC:24141
    See related
    Ensembl:ENSG00000198488 MIM:615315; AllianceGenome:HGNC:24141
    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
    BGnT-6; B3Gn-T6; beta3Gn-T6; beta-1,3-Gn-T6
    Summary
    The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans, which are important components of mucin-type glycoproteins. [provided by RefSeq, Dec 2016]
    Expression
    Biased expression in colon (RPKM 17.5), stomach (RPKM 11.9) and 4 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See B3GNT6 in Genome Data Viewer
    Location:
    11q13.5
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (77034398..77041973)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (76964751..76972335)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76745442..76753020)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902720 Neighboring gene CRISPRi-validated cis-regulatory element chr11.4478 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:76550011-76551210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3791 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3792 Neighboring gene alkaline ceramidase 3 Neighboring gene Sharpr-MPRA regulatory region 1403 Neighboring gene NANOG hESC enhancer GRCh37_chr11:76653242-76653743 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76656496-76657284 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76657285-76658073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3793 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:76674446-76675645 Neighboring gene ACER antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3795 Neighboring gene uncharacterized LOC105369399 Neighboring gene uncharacterized LOC105369400

    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?

    General gene information

    Markers

    Clone Names

    • MGC119334, MGC119336, MGC119337

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in O-glycan processing TAS
    Traceable Author Statement
    more info
     
    involved_in core 3 O-glycan biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in glycoprotein biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in poly-N-acetyllactosamine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase
    Names
    beta-1,3-N-acetylglucosaminyltransferase 6
    beta-1,3-N-acetylglucosaminyltransferase protein
    core 3 synthase
    NP_619651.3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript 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 in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_053138.1 RefSeqGene

      Range
      5058..12633
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_138706.5NP_619651.3  acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase

      See identical proteins and their annotated locations for NP_619651.3

      Status: REVIEWED

      Source sequence(s)
      AK127544, BC025357, BC103908, CD636501, DA439499
      Consensus CDS
      CCDS53681.1
      UniProtKB/Swiss-Prot
      E9PKS1, Q6ZMB0, Q6ZSC5, Q8TAZ4, Q8TDX1
      UniProtKB/TrEMBL
      A8K9Q8
      Related
      ENSP00000484640.1, ENST00000622824.1
      Conserved Domains (1) summary
      cl21608
      Location:131323
      Galactosyl_T; Galactosyltransferase

    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
      77034398..77041973
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      76964751..76972335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)