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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PIKFYVE (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID200576
Official gene symbolPIKFYVE
Full namephosphoinositide kinase, FYVE finger containing
Aliases,CFD,FAB1,FLJ37746,KIAA0981,MGC40423,PIP5K,PIP5K3,
Gene summaryPhosphorylated 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.
LocationChromosome: 2   Locus: 2q34
Gene position209130991 - 209223475  Map Viewer
Gene orientationplus
Gene size92485 bp
Gene sequence
OMIM ID609414