PIKFYVE, phosphoinositide kinase, FYVE-type zinc finger containing

PIKFYVE, phosphoinositide kinase, FYVE-type zinc finger containing

• 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]

• Gene Synonyms (1-phosphatidylinositol 3-phosphate 5-kinase, PIPkin-III, epididymis luminal protein 37, phosphatidylinositol 3-phosphate 5-kinase type III, phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III, phosphoinositide kinase, FYVE finger containing, type III PIP kinase, zinc finger, FYVE domain containing 29, CFD, FAB1, HEL37, PIP5K, PIP5K3, ZFYVE29,)
• NCBI Gene ID: 200576
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q9Y2I7
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

phosphoinositide kinase, FYVE-type zinc finger containing interacts with:

• protein prenyltransferase alpha subunit repeat containing 1
  translocase of inner mitochondrial membrane 23

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