PIKFYVE
phosphoinositide kinase, FYVE finger containing
Synonyms:
CFD, FAB1, PIP5K, PIP5K3, ZFYVE29
Species:
Human PIKFYVE (200576), Mouse Pikfyve (18711), Rat Pikfyve (316457), naked mole-rat Pikfyve (101705294), domestic guinea pig Pikfyve (101788192), dog PIKFYVE (478890), cow PIKFYVE (790873), Horse PIKFYVE (100066445), sheep PIKFYVE (101120727), Zebrafish pikfyve (337690) ...More
UniProtKB ID:
Gene ID:
- Human(200576) 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.[provided by RefSeq, May 2010]
- Mouse(18711) phosphoinositide kinase, FYVE finger containing
- Rat(316457) phosphoinositide kinase, FYVE finger containing
- naked mole-rat(101705294) phosphoinositide kinase, FYVE finger containing
- domestic guinea pig(101788192) phosphoinositide kinase, FYVE finger containing
- dog(478890) phosphoinositide kinase, FYVE finger containing
- cow(790873) phosphoinositide kinase, FYVE finger containing
- Horse(100066445) phosphoinositide kinase, FYVE finger containing
- sheep(101120727) phosphoinositide kinase, FYVE finger containing
- Zebrafish(337690) phosphoinositide kinase, FYVE finger containing
- chicken(424114) phosphoinositide kinase, FYVE finger containing
- domestic cat(101094121) phosphoinositide kinase, FYVE finger containing
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