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Description for Protein PIGP

phosphatidylinositol glycan anchor biosynthesis, class P
3 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K03861
    KEGG - Pathway(s):
    hsa00563; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 1; Phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 2; EC 2.4.1.198; NPD010; Down syndrome critical region gene 5; DSCR5; Down syndrome critical region protein C; Phosphatidylinositol N acetylglucosaminyltransferase subunit P; Phosphatidylinositol glycan biosynthesis, class P protein; DCRC; DSRC; DSCRC; Down syndrome critical region protein 5
    Approved Symbol:
    PIGP
    (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:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 3 : 2
  • Isoform 2 : 1
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 05806 Entrez Gene ID: 51227 OMIM ID: 605938 Swissprot Accession: P57054;