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]

Description

Phospholipase C epsilon 1

Tissue specificity

Low tissue specificity

Subcell location

Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
RAS pathway related proteins

Chromosome

10 (93993931 - 94332823)

Ensembl ID

ENSG00000138193  (ver. 103.38)

Orthologs

Mouse Plce1: ENSMUSG00000024998

UniProt

Q9P212

neXtProt

NX_Q9P212

Human splice variants
Mouse splice variants

Protein structure