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    B3GNT3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 [ Homo sapiens (human) ]

    Gene ID: 10331, updated on 2-May-2024

    Summary

    Official Symbol
    B3GNT3provided by HGNC
    Official Full Name
    UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3provided by HGNC
    Primary source
    HGNC:HGNC:13528
    See related
    Ensembl:ENSG00000179913 MIM:605863; AllianceGenome:HGNC:13528
    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
    TMEM3; B3GN-T3; B3GNT-3; HP10328; B3GAL-T8; beta3Gn-T3
    Summary
    This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in colon (RPKM 28.2), stomach (RPKM 18.5) and 9 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    19p13.11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17794791..17813576)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17928853..17947690)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17905947..17924385)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14283 Neighboring gene microtubule associated protein 1S Neighboring gene uncharacterized LOC124904649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17849672-17850172 Neighboring gene Sharpr-MPRA regulatory region 7159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10359 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:17864444-17864964 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:17864965-17865484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14284 Neighboring gene MPRA-validated peak3395 silencer Neighboring gene FCH and mu domain containing endocytic adaptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17877027-17877564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14285 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17905145-17905842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17905843-17906540 Neighboring gene insulin like 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17941863-17942447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17942448-17943031 Neighboring gene Janus kinase 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:17952872-17953108

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in O-glycan processing TAS
    Traceable Author Statement
    more info
     
    involved_in keratan sulfate biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in poly-N-acetyllactosamine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in poly-N-acetyllactosamine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3
    Names
    UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 8
    UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 8
    beta-1,3-GalTase 8
    beta-1,3-Gn-T3
    beta-1,3-N-acetylglucosaminyltransferase bGnT-3
    beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase
    beta-3-Gx-T8
    beta3GalT8
    core 1 extending beta-1,3-N-acetylglucosaminyltransferase
    core1-beta3GlcNAcT
    putative type II membrane protein
    transmembrane protein 3
    NP_055071.2
    XP_011525928.1
    XP_047293998.1
    XP_054175489.1
    XP_054175490.1

    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_028981.1 RefSeqGene

      Range
      5029..23467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014256.4NP_055071.2  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3

      See identical proteins and their annotated locations for NP_055071.2

      Status: REVIEWED

      Source sequence(s)
      AB015630, AB049585, AW848963, DA385410, DB104034
      Consensus CDS
      CCDS12364.1
      UniProtKB/Swiss-Prot
      B2RAS4, Q6NWU9, Q6NXU9, Q8WWR6, Q9C0J2, Q9Y2A9
      UniProtKB/TrEMBL
      B3KQT5
      Related
      ENSP00000321874.5, ENST00000318683.7
      Conserved Domains (1) summary
      cl21608
      Location:122311
      Galactosyl_T; Galactosyltransferase

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      17794791..17813576
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527626.3XP_011525928.1  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 isoform X1

      See identical proteins and their annotated locations for XP_011525928.1

      UniProtKB/Swiss-Prot
      B2RAS4, Q6NWU9, Q6NXU9, Q8WWR6, Q9C0J2, Q9Y2A9
      UniProtKB/TrEMBL
      B3KQT5
      Conserved Domains (1) summary
      cl21608
      Location:122311
      Galactosyl_T; Galactosyltransferase
    2. XM_047438042.1XP_047293998.1  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RAS4, Q6NWU9, Q6NXU9, Q8WWR6, Q9C0J2, Q9Y2A9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      17928853..17947690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319514.1XP_054175489.1  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 isoform X1

    2. XM_054319515.1XP_054175490.1  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 isoform X1