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Description for Protein PIGA

phosphatidylinositol glycan anchor biosynthesis, class A
5 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    2.4.1.198
    KEGG - Orthology:
    K03857
    KEGG - Pathway(s):
    hsa00563; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Phosphatidylinositol glycan, class A; PIGAP1; GLCNAC-PI synthesis protein; Phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 3; GPI3; PIG-A; Phosphatidylinositol-glycan biosynthesis, class A protein; EC 2.4.1.198; Phosphatidylinositol N-acetylglucosaminyltransferase subunit A, isoform 1
    Approved Symbol:
    PIGA
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; 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:

  • Paroxysmal nocturnal hemoglobinuria(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 3 : 1
  • Isoform 2 : 0
  • Isoform 1 : 1
  • Additional Identifiers:

    HPRD: 02410 Entrez Gene ID: 5277 OMIM ID: 311770 Swissprot Accession: P37287B3KUV7