- Gene Overview
- Interaction Network
- Sequence Verification
PLCE1, phospholipase C epsilon 1
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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]
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Gene Synonyms (1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, PLC-epsilon-1, pancreas-enriched phospholipase C, phosphoinositide phospholipase C, phosphoinositide phospholipase C-epsilon-1, phosphoinositide-specific phospholipase C epsilon-1, NPHS3, PLCE, PPLC,)
- NCBI Gene ID:
51196
- Species:
Homo sapiens (Human)
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UNIPROT ID#>>Q9P212
UNIPROT ID#>>B7ZM61
- View the NCBI Database
for this Gene »
Gene products are often involved in multiple pathways and networks within a living
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phospholipase C epsilon 1 interacts with:
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