Homo sapiens Gene: PLCE1
Summary
InnateDB Gene IDBG-83012.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PLCE1
Gene Name phospholipase C, epsilon 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000138193
Encoded Proteins
phospholipase C, epsilon 1
phospholipase C, epsilon 1
phospholipase C, epsilon 1
phospholipase C, epsilon 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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.[provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:93993989-94332823
Strand Forward strand
Band q23.33
Transcripts
ENST00000260766 ENSP00000260766
ENST00000371385 ENSP00000360438
ENST00000371380 ENSP00000360431
ENST00000371375 ENSP00000360426
ENST00000464214
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0004629 phospholipase C activity
GO:0005057 receptor signaling protein activity
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008081 phosphoric diester hydrolase activity
GO:0017016 Ras GTPase binding
GO:0019899 enzyme binding
Biological Process
GO:0000187 activation of MAPK activity
GO:0001558 regulation of cell growth
GO:0006629 lipid metabolic process
GO:0006644 phospholipid metabolic process
GO:0006651 diacylglycerol biosynthetic process
GO:0006940 regulation of smooth muscle contraction
GO:0007010 cytoskeleton organization
GO:0007165 signal transduction
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007205 protein kinase C-activating G-protein coupled receptor signaling pathway
GO:0007264 small GTPase mediated signal transduction
GO:0007265 Ras protein signal transduction
GO:0007507 heart development
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway
GO:0008283 cell proliferation
GO:0016042 lipid catabolic process
GO:0019722 calcium-mediated signaling
GO:0032835 glomerulus development
GO:0035556 intracellular signal transduction
GO:0043547 positive regulation of GTPase activity
GO:0043647 inositol phosphate metabolic process
GO:0044281 small molecule metabolic process
GO:0045859 regulation of protein kinase activity
GO:0046578 regulation of Ras protein signal transduction
GO:0048016 inositol phosphate-mediated signaling
Cellular Component
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
EGFR1 pathway
REACTOME
Inositol phosphate metabolism pathway
Metabolism pathway
Synthesis of IP3 and IP4 in the cytosol pathway
KEGG
Inositol phosphate metabolism pathway
Calcium signaling pathway pathway
Phosphatidylinositol signaling system pathway
INOH
Inositol phosphate metabolism pathway
PID BIOCARTA
Phospholipase c-epsilon pathway [Biocarta view]
PID NCI
Regulation of Ras family activation
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.655033
RefSeq NM_001165979 NM_001288989 NM_016341
HUGO
OMIM
CCDS CCDS41552 CCDS53555
HPRD 07087
IMGT
EMBL
GenPept
RNA Seq Atlas