Phosphoinositide Kinase, FYVE Finger Containing (PIKFYVE)

PIP5K3; CFD; PIP5K; PIKfyve; p235; Phosphatidylinositol-3-Phosphate/Phosphatidylinositol 5-Kinase,Type III; 1-phosphatidylinositol 3-phosphate 5-kinase

SPN	M854
HGNC	23785
MGI	1335106
PubMed	23154468
RGD	1592067
UniProt	Q9Y2I7
Wiki	PIKFYVE

PIKFYVE 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. 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.

Reference

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