Protein 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.

Alternative names and synonyms associated with PIKFYVE

• phosphoinositide kinase, FYVE finger containing (pikfyve) antibody
• phosphoinositide kinase, FYVE-type zinc finger containing (PIKFYVE) antibody
• phosphoinositide kinase, FYVE type zinc finger containing (Pikfyve) antibody
• phosphoinositide kinase, FYVE-type zinc finger containing (Pikfyve) antibody

• 5230400C17Rik antibody
• CFD antibody
• FAB1 antibody
• fab1-like antibody
• p235 antibody
• Show all synonym aliases
• Pip5k antibody
• Pip5k3 antibody
• Pipk5k3 antibody
• PipkIII antibody
• wu:fo93c03 antibody
• ZFYVE29 antibody

Protein level used designations for PIKFYVE

1-phosphatidylinositol-3-phosphate 5-kinase , phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III , 1-phosphatidylinositol 3-phosphate 5-kinase , PIPkin-III , phosphatidylinositol 3-phosphate 5-kinase type III , type III PIP kinase , zinc finger, FYVE domain containing 29 , FYVE finger-containing phosphoinositide kinase , PtdIns(4)P-5-kinase , phosphatidylinositol-3-phosphate 5-kinase type III , phosphatidylinositol-4-phosphate 5-kinase, type III