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Description for Protein PLCE1

phospholipase C, epsilon 1
3 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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. (PubMed Links)
Domains and Motifs:
  • PLCXc: Phospholipase C, catalytic domain (part)
  • domain X
  • PLCYc: Phospholipase C, catalytic domain (part)
  • domain Y
  • C2: Protein kinase C conserved region 2 (CalB)
  • RA: Ras association (RalGDS/AF-6) domain
  • CC: Coiled Coil
  • RasGEF: Guanine nucleotide exchange factor for Ras-like small GTPases
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05860
    KEGG - Pathway(s):
    hsa00562; hsa01100; hsa04020; hsa04070
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Phosphoinositide specific phospholipase C PLC epsilon; PLCE; Pancreas enriched phospholipase C; KIAA1516
    Approved Symbol:
    PLCE1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 6
    Human (de-) phosphorylation sites: 6; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Nephrotic syndrome, type 3(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 07087 Entrez Gene ID: 51196 OMIM ID: 608414 Swissprot Accession: Q9P212; Q5VWL4; A8K1D7;