Symbol: Name: ID: |
PLCE1 phospholipase C, epsilon 1 GFS:6262 |
Gene name: | PLCE1 |
Chromosome: | 10q23 |
Previous Symbols: | |
Previous Names: | |
Aliases: | KIAA1516, PLCE, NPHS3 |
Name Aliases: | nephrosis type 3 |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1921305 | Rat Genome Database ID: | RGD:69424 |
HGNC ID: | HGNC:17175 | RefSeq IDs: | NM_001165979 |
Entrez Gene ID: | 51196 | Ensembl Gene ID: | ENSG00000138193 |
VEGA IDs: | OTTHUMG00000018789 | UniProt ID: | Q9P212 |
UCSC ID: | uc001kjk.2 | OMIM ID: | 608414 |
Pubmed: | PMID11022047 PMID 11022048 | ||
CCDS IDs: | CCDSCCDS41552.1 |
1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase epsilon-1 is an enzyme that in humans is encoded by the PLCE1 gene.
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].
Function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. PLCE1 is a bifunctional enzyme which also regulates small GTPases of the Ras superfamily through its Ras guanine-exchange factor (RasGEF) activity. As an effector of heterotrimeric and small G-protein, it may play a role in cell survival, cell growth, actin organization and T-cell activation.
Products for PLCE1 gene
Catalog | Product Name | Application | Company |
GFS:E06262 | phospholipase C, epsilon 1; ELISA kit | ELISA | n/a |
GFS:A06262 | phospholipase C, epsilon 1; Anti | ANTIBODIES | n/a |
GFS:P06262 | phospholipase C, epsilon 1; Protien | Protien | n/a |