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Description for Protein C1GALT1C1

C1GALT1-specific chaperone 1
3 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.4.1.-
    KEGG - Orthology:
    K09653
    KEGG - Pathway(s):
    hsa00512; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Core 1 UDP galactose:N acetylgalactosamine alpha R beta 1,3 galactosyltransferase 2; Core 1 beta3 galactosyltransferase specific molecular chaperone; C1GALT2; C1Gal-T2; COSMC
    Approved Symbol:
    C1GALT1C1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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):

    None Available

    Associated Genetic Diseases:

  • TN syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 06462 Entrez Gene ID: 29071 OMIM ID: 300611 Swissprot Accession: Q96EU7;