Catalytic activity:ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4 ,5-bisphosphate. ,Disease:Defects in PIKFYVE are the cause of corneal fleck dystrophy (CFD) [MIM:121850]. CFD is an autosomal dominant disorder of the cornea characterized by numerous small white flecks scattered in all levels of the stroma. Although CFD may occasionally cause mild photophobia , patients are typically asymptomatic and have normal vision. ,Function:Supports the intracellular PIP pool and to a lesser extent , the PI 4 ,5-P (2) pool. It generates PIP from PI and , to a lesser extent , PI 4 ,5-P (2) from PI 4-P. There are indications that it phosphorylates the D-5 rather than the D-4 position. Has a role in endosome-related membrane trafficking. ,similarity:Contains 1 DEP domain. ,similarity:Contains 1 FYVE-type zinc finger. ,similarity:Contains 1 PI5K domain. ,subcellular location:Mainly associated with membranes of the late endocytic pathway. ,
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