InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PLCE1

Summary

InnateDB Protein

IDBP-83018.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PLCE1

Protein Name

phospholipase C, epsilon 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000360431

InnateDB Gene

IDBG-83012 (PLCE1)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:11022047, ECO:0000269PubMed:11395506, ECO:0000269PubMed:11715024, ECO:0000269PubMed:11877431, ECO:0000269PubMed:12721365, ECO:0000269PubMed:16537651, ECO:0000269PubMed:17086182}.

Subcellular Localization

Cytoplasm, cytosol. Cell membrane. Golgi apparatus membrane. Note=Recruited to plasma membrane by activated HRAS and RAP2. Recruited to perinuclear membrane by activated RAP1A. Isoform 1 and isoform 2 associates with Golgi membranes.

Disease Associations

Nephrotic syndrome 3 (NPHS3) [MIM:610725]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen. {ECO:0000269PubMed:17086182}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Isoform 1 is broadly expressed and only absent in peripheral blood leukocytes. Isoform 2 is specifically expressed in placenta, lung and spleen. {ECO:0000269PubMed:11022047, ECO:0000269PubMed:11022048, ECO:0000269PubMed:15558028}.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000008 C2 domain
IPR000159 Ras-association
IPR000909 Phospholipase C, phosphatidylinositol-specific , X domain
IPR001192 Phosphoinositide phospholipase C family
IPR001711 Phospholipase C, phosphatidylinositol-specific, Y domain
IPR001895 Ras guanine-nucleotide exchange factors catalytic domain
IPR015359 Phospholipase C, phosphoinositol-specific, EF-hand-like
IPR017946 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain
IPR023578 Ras guanine nucleotide exchange factor domain
IPR029071 Ubiquitin-related domain

PFAM

PF00168
PF00788
PF00388
PF00387
PF00617
PF09279

PRINTS

PR00360
PR00390

PIRSF

SMART

SM00239
SM00314
SM00148
SM00149
SM00147

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt