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Description for Protein B4GALT1

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
6 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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 is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.4.1.-; 2.4.1.22; 2.4.1.38; 2.4.1.90
    KEGG - Orthology:
    K07966
    KEGG - Pathway(s):
    hsa00052; hsa00510; hsa00533; hsa00601; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    UDP-GAL; beta-GlcNAc; beta-1,4-galactosyltransferase,polypeptide 1; GTB; Galactosyltransferase 1; GT1; Glycoprotein 4-beta-galactosyltransferase 2; GGTB2; Lactose synthetase; Lactose synthase A protein; EC 2.4.1.-
    Approved Symbol:
    B4GALT1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • 2-(N-Morpholino)-Ethanesulfonic Acid(db);
  • 6-Aminohexyl-Uridine-C1,5'-Diphosphate(db);
  • Di(N-Acetyl-D-Glucosamine)(db);
  • N-Acetyl-D-glucosamine(db);
  • Uridine Diphosphate Galactose(db);
  • Uridine-5'-Monophosphate(db)

    Associated Genetic Diseases:

  • Congenital disorder of glycosylation, type Iid(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 00659 Entrez Gene ID: 2683 OMIM ID: 137060 Swissprot Accession: P15291;