DISEASES

Disease-gene associations mined from literature

Literature associating PIP4P1 and Meniere's disease

PIP4P1 [ENSP00000381102]

Type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase; Catalyzes the hydrolysis of phosphatidylinositol-4,5- bisphosphate (PtdIns-4,5-P2) to phosphatidylinositol-4-phosphate (PtdIns-4-P) . Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4-bisphosphate, phosphatidylinositol 5- monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate . Regulates lysosomal positioning by recruiting JIP4 to lysosomal membranes, thus inducing retrograde transport of lysosomes along microtubules . Contributes to assembly of the V-ATPase complex in lipid rafts of the lysosomal membrane and to subsequent amino acid- dependent activation of mTORC1 . May play a role in the regulation of cellular cholesterol metabolism .

Synonyms:  PIP4P1,  PIP4P1p,  hPIP4P1,  G3V5T5,  H0YJ90 ...

Linkouts:  STRING  Pharos  UniProt  OMIM