Phospholipase C epsilon 1 (PLCE1)

Phospholipase C epsilon 1 (PLCE1) is a multifunctional enzyme encoded by the PLCE1 gene. It hydrolyzes phosphatidylinositol-4,5-bisphosphate (PIP2) to produce second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG), key regulators of intracellular signaling cascades. PLCE1 also functions as a guanine nucleotide exchange factor (GEF) for Ras-family GTPases, thus integrating enzymatic phospholipase activity with small GTPase signaling. It is expressed in several tissues, notably in kidney podocytes, where it influences cell migration, proliferation, differentiation, and actin cytoskeleton organization. Disease-associated mutations in PLCE1 cause early-onset nephrotic syndrome (type 3), and polymorphisms or overexpression are implicated in the etiology and progression of several cancers. PLCE1 also plays a role in cardiovascular regulation, particularly cardiac hypertrophy and heart failure. It is widely studied as a candidate therapeutic target and diagnostic biomarker, though direct drug modulators are still in development

Other names

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1PLCEPLC-epsilon-1KIAA1516NPHS3Pancreas-enriched phospholipase CPhosphoinositide phospholipase C-epsilon-1Phospholipase C-epsilon-1phosphoinositide-specific phospholipase C epsilon-1

Enzyme inhibition (potential future therapies could inhibit PLCE1’s hydrolytic activity in disease contexts); GEF inhibition (modulation of guanine nucleotide exchange function); Modulation of signaling pathways (downstream effectors include TRPC6, MAPKs, actin cytoskeleton modulators)