NM_001165979.2
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
223,872 Da
NCBI Official Full Name
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 2
NCBI Official Synonym Full Names
phospholipase C epsilon 1
NCBI Protein Information
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
UniProt Protein Name
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
UniProt Synonym Protein Names
Pancreas-enriched phospholipase C; Phosphoinositide phospholipase C-epsilon-1; Phospholipase C-epsilon-1; PLC-epsilon-1
UniProt Synonym Gene Names
UniProt Entry Name
PLCE1_HUMAN
NCBI Summary for PLCE1
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]
UniProt Comments for PLCE1
PLCE1: a widely expressed bifunctional enzyme with phospholipase activity and Ras guanine-exchange factor (RasGEF) activity. Catalyzes the release of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) from 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate. Is an effector of heterotrimeric G protein activation. May play a role in cell survival, cell growth, actin organization and T-cell activation. Activated by the heterotrimeric G-protein subunits GNA12, GNA13 and GNB1-GNG2. Activated by HRAS, RAP1A, RHOA, RHOB, RHOC, RRAS and RRAS2. Activated by the G(s)-coupled GPCRs ADRB2, PTGER1 and CHRM3 through cyclic-AMP formation and RAP2B activation. Inhibited by G(i)-coupled GPCRs. Interacts with RHOA. Interacts with IQGAP1, HRAS, RAP1A, RAP2A, RAP2B and RRAS. Recruited to plasma membrane by activated HRAS and RAP2. Recruited to perinuclear membrane by activated RAP1A. Requires calcium for activiation. The Ras-associating domain 1 is degenerate and may not bind HRAS. The Ras-associating domain 2 mediates interaction with GTP-bound HRAS, RAP1A, RAP2A and RAP2B and recruitment of HRAS to the cell membrane. The Ras-GEF domain has a GEF activity towards HRAS and RAP1A. Mediates activation of the mitogen-activated protein kinase pathway. Defects in PLCE1 are the cause of nephrotic syndrome type 3 (NPHS3). Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria, hypoalbuminemia, edema. Overexpressed during heart failure. A GWAS study identified an association between esophageal squamous cell carcinoma and a common DNA variant in the PLCE1 gene in East Asians. Two isoforms of the human protein are produced by alternative splicing. Isoform 1 is broadly expressed and only absent in peripheral blood leukocytes. Isoform 2 is specifically expressed in placenta, lung and spleen. Isoform 1 and isoform 2 associate with Golgi membranes.
Protein type: Carbohydrate Metabolism - inositol phosphate; EC 3.1.4.11; GAPs; GAPs, Ras; Phospholipase
Chromosomal Location of Human Ortholog: 10q23
Cellular Component: cytoplasm; cytosol; plasma membrane
Molecular Function: enzyme binding; guanyl-nucleotide exchange factor activity; phosphoinositide phospholipase C activity; phospholipase C activity; protein binding; Ras GTPase binding; receptor signaling protein activity
Biological Process: activation of MAPK activity; calcium-mediated signaling; diacylglycerol biosynthetic process; elevation of cytosolic calcium ion concentration; G-protein signaling, coupled to IP3 second messenger (phospholipase C activating); glomerulus development; heart development; inositol phosphate metabolic process; inositol phosphate-mediated signaling; phospholipid metabolic process; Ras protein signal transduction; regulation of cell growth; regulation of G-protein coupled receptor protein signaling pathway; regulation of protein kinase activity; regulation of Ras protein signal transduction; regulation of smooth muscle contraction
Disease: Nephrotic Syndrome, Type 3
Research Articles on PLCE1
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Pathways associated with PLCE1 elisa kit
Diseases associated with PLCE1 elisa kit
Organs/Tissues associated with PLCE1 elisa kit
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