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Description for Protein PIKFYVE

phosphoinositide kinase, FYVE finger containing
4 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(undefined: 1)
Summary:
Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. (PubMed Links)
Domains and Motifs:
  • FYVE: Protein present in Fab1, YOTB, Vac1, and EEA1
  • PIPKc: Phosphatidylinositol phosphate kinases
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.1.150
    KEGG - Orthology:
    K00921
    KEGG - Pathway(s):
    hsa00562; hsa04070; hsa04810
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III isoform 2; Phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III isoform 3; p235; PIP5K; PIKfyve; KIAA0981; MGC40423; FYVE finger containing phosphoinositide kinase; EC 2.7.1.68; 1-phosphatidylinositol-4-phosphate 5-kinase; PtdIns(4)P-5-kinase
    Approved Symbol:
    PIKFYVE
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 79
    Human (de-) phosphorylation sites: 79; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 1
    Human phosphorylation targets: 1; Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Corneal fleck dystrophy(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 17852 Entrez Gene ID: 200576 OMIM ID: 609414 Swissprot Accession: Q9Y2I7; Q8N5H0;