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    B4GALT3 beta-1,4-galactosyltransferase 3 [ Homo sapiens (human) ]

    Gene ID: 8703, updated on 18-Jun-2019

    Summary

    Official Symbol
    B4GALT3provided by HGNC
    Official Full Name
    beta-1,4-galactosyltransferase 3provided by HGNC
    Primary source
    HGNC:HGNC:926
    See related
    Ensembl:ENSG00000158850 MIM:604014
    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
    beta4Gal-T3
    Summary
    This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in placenta (RPKM 11.2), testis (RPKM 11.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See B4GALT3 in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (161171310..161185007, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161141100..161147758, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene linc-UFC1 Neighboring gene ubiquitin-fold modifier conjugating enzyme 1 Neighboring gene ubiquitin specific peptidase 21 Neighboring gene protoporphyrinogen oxidase Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 4 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S2 Neighboring gene Fc fragment of IgE receptor Ig

    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 FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 (B4GALT3) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    N-acetyllactosamine synthase activity IEA
    Inferred from Electronic Annotation
    more info
     
    beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    galactosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    galactosylceramide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    keratan sulfate biosynthetic process TAS
    Traceable Author Statement
    more info
     
    protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    extracellular exosome HDA PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    beta-1,4-galactosyltransferase 3
    Names
    N-acetyllactosamine synthase
    UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 3
    UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3
    UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 3
    b4Gal-T3
    beta-1,4-GalTase 3
    beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 3
    beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase
    epididymis secretory sperm binding protein
    nal synthase
    NP_001186802.1
    NP_001186803.1
    NP_003770.1
    XP_005245623.1
    XP_011508395.1
    XP_016858203.1
    XP_024306308.1
    XP_024306309.1

    NCBI Reference Sequences (RefSeq)

    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_011480.1 RefSeqGene

      Range
      4557..11215
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199873.1NP_001186802.1  beta-1,4-galactosyltransferase 3

      See identical proteins and their annotated locations for NP_001186802.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK291455, AL590714, BC006099, DC339671
      Consensus CDS
      CCDS1222.1
      UniProtKB/Swiss-Prot
      O60512
      UniProtKB/TrEMBL
      A8K5Z0
      Related
      ENSP00000480428.1, ENST00000622395.4
      Conserved Domains (1) summary
      cd00899
      Location:122341
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
    2. NM_001199874.1NP_001186803.1  beta-1,4-galactosyltransferase 3

      See identical proteins and their annotated locations for NP_001186803.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal segment in the 5' UTR, and encodes the same protein, as compared to variant 1.
      Source sequence(s)
      AK291455, BC006099, BC009985, DC339671
      Consensus CDS
      CCDS1222.1
      UniProtKB/Swiss-Prot
      O60512
      UniProtKB/TrEMBL
      A8K5Z0
      Related
      ENSP00000356977.1, ENST00000367998.5
      Conserved Domains (1) summary
      cd00899
      Location:122341
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
    3. NM_003779.4NP_003770.1  beta-1,4-galactosyltransferase 3

      See identical proteins and their annotated locations for NP_003770.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal segment in the 5' UTR, and encodes the same protein, as compared to variant 1.
      Source sequence(s)
      AK291455, BC006099, DC339671
      Consensus CDS
      CCDS1222.1
      UniProtKB/Swiss-Prot
      O60512
      UniProtKB/TrEMBL
      A8K5Z0
      Related
      ENSP00000320965.5, ENST00000319769.10
      Conserved Domains (1) summary
      cd00899
      Location:122341
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      161171310..161185007 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002714.2XP_016858203.1  beta-1,4-galactosyltransferase 3 isoform X2

      Conserved Domains (1) summary
      cd00899
      Location:122303
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
    2. XM_011510093.2XP_011508395.1  beta-1,4-galactosyltransferase 3 isoform X2

      Conserved Domains (1) summary
      cd00899
      Location:122303
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
    3. XM_024450540.1XP_024306308.1  beta-1,4-galactosyltransferase 3 isoform X1

      Conserved Domains (1) summary
      cd00899
      Location:122341
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
    4. XM_024450541.1XP_024306309.1  beta-1,4-galactosyltransferase 3 isoform X1

      Conserved Domains (1) summary
      cd00899
      Location:122341
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
    5. XM_005245566.2XP_005245623.1  beta-1,4-galactosyltransferase 3 isoform X1

      See identical proteins and their annotated locations for XP_005245623.1

      UniProtKB/Swiss-Prot
      O60512
      Conserved Domains (1) summary
      cd00899
      Location:122341
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

    RNA

    1. XR_002957952.1 RNA Sequence

    2. XR_002957951.1 RNA Sequence

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