Format

Send to:

Choose Destination
    • Showing Current items.

    B4GALT5 beta-1,4-galactosyltransferase 5 [ Homo sapiens (human) ]

    Gene ID: 9334, updated on 21-Dec-2019

    Summary

    Official Symbol
    B4GALT5provided by HGNC
    Official Full Name
    beta-1,4-galactosyltransferase 5provided by HGNC
    Primary source
    HGNC:HGNC:928
    See related
    Ensembl:ENSG00000158470 MIM:604016
    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
    Also known as
    gt-V; B4Gal-T5; beta4Gal-T5; beta4GalT-V; BETA4-GALT-IV
    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. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 36.1), adrenal (RPKM 25.6) and 24 other tissues See more
    Orthologs

    Genomic context

    See B4GALT5 in Genome Data Viewer
    Location:
    20q13.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (49632945..49713878, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (48249482..48330421, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene prostaglandin I2 synthase Neighboring gene uncharacterized LOC101927486 Neighboring gene uncharacterized LOC105372651 Neighboring gene RNA, 7SL, cytoplasmic 197, pseudogene Neighboring gene small nuclear ribonucleoprotein polypeptide F pseudogene 1

    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

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    NHGRI GWA Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC138470

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    N-acetyllactosamine synthase activity IEA
    Inferred from Electronic Annotation
    more info
     
    UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    galactosyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    O-glycan processing TAS
    Traceable Author Statement
    more info
     
    central nervous system myelination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    central nervous system neuron axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ganglioside biosynthetic process via lactosylceramide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    keratan sulfate biosynthetic process TAS
    Traceable Author Statement
    more info
     
    neuron maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    poly-N-acetyllactosamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein glycosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of protein stability ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    beta-1,4-galactosyltransferase 5
    Names
    UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5
    UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5
    UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5
    beta-1,4-GalT II
    beta-1,4-GalT IV
    beta-1,4-GalTase 5
    beta-1.4-galactosyltransferase V
    beta4-GalT IV
    glucosylceramide beta-1,4-galactosyltransferase
    lacCer synthase
    lactosylceramide synthase
    NP_004767.1

    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.

    mRNA and Protein(s)

    1. NM_004776.4NP_004767.1  beta-1,4-galactosyltransferase 5

      See identical proteins and their annotated locations for NP_004767.1

      Status: VALIDATED

      Source sequence(s)
      AL035683, BC104987, BG939833, DR000345
      Consensus CDS
      CCDS13420.1
      UniProtKB/Swiss-Prot
      O43286
      Related
      ENSP00000360776.4, ENST00000371711.4
      Conserved Domains (1) summary
      cd00899
      Location:161377
      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 Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      49632945..49713878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center