PIKFYVE

Also known as CFD, FAB1, HEL37, PIP5K, PIP5K3, ZFYVE29, phosphoinositide kinase, FYVE-type zinc finger containing

PIKfyve, a FYVE finger-containing phosphoinositide kinase, is an enzyme that in humans is encoded by the PIKFYVE gene.

Gene data

PIKFYVE

Name: phosphoinositide kinase, FYVE-type zinc finger containing
Type: protein-coding
Position: 208,266,229–208,358,755 (+)
Aliases: FAB1, HEL37, PIP5K, PIP5K3, ZFYVE29
Ensembl: ENSG00000115020
RefSeq RNA: NM_001002881.1, NM_001178000.2, NM_015040.4, NM_152671.4, XM_011510778.4
RefSeq protein: NP_001171471.1, NP_055855.2, NP_689884.1, XP_011509080.1, XP_011509081.1

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. The protein plays a key role in cell entry of ebola virus and SARS-CoV-2 by endocytosis 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. [provided by RefSeq, Jul 2021].