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This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Plasma proteins RAS pathway related proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
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GO:0000139 [Golgi membrane] GO:0000187 [activation of MAPK activity] GO:0001558 [regulation of cell growth] GO:0004435 [phosphatidylinositol phospholipase C activity] GO:0004629 [phospholipase C activity] GO:0005057 [receptor signaling protein activity] GO:0005085 [guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0006629 [lipid metabolic process] GO:0006644 [phospholipid metabolic process] GO:0006651 [diacylglycerol biosynthetic process] GO:0006940 [regulation of smooth muscle contraction] GO:0007010 [cytoskeleton organization] GO:0007165 [signal transduction] GO:0007173 [epidermal growth factor receptor signaling pathway] GO:0007186 [G-protein coupled receptor signaling pathway] GO:0007200 [phospholipase C-activating G-protein coupled receptor signaling pathway] GO:0007204 [positive regulation of cytosolic calcium ion concentration] GO:0007205 [protein kinase C-activating G-protein coupled receptor signaling pathway] GO:0007264 [small GTPase mediated signal transduction] GO:0007265 [Ras protein signal transduction] GO:0007507 [heart development] GO:0008081 [phosphoric diester hydrolase activity] GO:0008277 [regulation of G-protein coupled receptor protein signaling pathway] GO:0008283 [cell proliferation] GO:0016042 [lipid catabolic process] GO:0017016 [Ras GTPase binding] GO:0019722 [calcium-mediated signaling] GO:0019899 [enzyme binding] GO:0032835 [glomerulus development] GO:0035556 [intracellular signal transduction] GO:0043547 [positive regulation of GTPase activity] GO:0043647 [inositol phosphate metabolic process] GO:0044281 [small molecule metabolic process] GO:0045859 [regulation of protein kinase activity] GO:0046578 [regulation of Ras protein signal transduction] GO:0048016 [inositol phosphate-mediated signaling]
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Plasma proteins RAS pathway related proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane] GO:0000187 [activation of MAPK activity] GO:0001558 [regulation of cell growth] GO:0004435 [phosphatidylinositol phospholipase C activity] GO:0004629 [phospholipase C activity] GO:0005057 [receptor signaling protein activity] GO:0005085 [guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0006629 [lipid metabolic process] GO:0006644 [phospholipid metabolic process] GO:0006651 [diacylglycerol biosynthetic process] GO:0006940 [regulation of smooth muscle contraction] GO:0007010 [cytoskeleton organization] GO:0007165 [signal transduction] GO:0007173 [epidermal growth factor receptor signaling pathway] GO:0007200 [phospholipase C-activating G-protein coupled receptor signaling pathway] GO:0007204 [positive regulation of cytosolic calcium ion concentration] GO:0007205 [protein kinase C-activating G-protein coupled receptor signaling pathway] GO:0007264 [small GTPase mediated signal transduction] GO:0007265 [Ras protein signal transduction] GO:0007507 [heart development] GO:0008081 [phosphoric diester hydrolase activity] GO:0008277 [regulation of G-protein coupled receptor protein signaling pathway] GO:0008283 [cell proliferation] GO:0016042 [lipid catabolic process] GO:0017016 [Ras GTPase binding] GO:0019722 [calcium-mediated signaling] GO:0019899 [enzyme binding] GO:0032835 [glomerulus development] GO:0035556 [intracellular signal transduction] GO:0043547 [positive regulation of GTPase activity] GO:0043647 [inositol phosphate metabolic process] GO:0044281 [small molecule metabolic process] GO:0045859 [regulation of protein kinase activity] GO:0046578 [regulation of Ras protein signal transduction] GO:0048016 [inositol phosphate-mediated signaling]