Entity Details

Primary name PLCE1
Entity type gene
Source Source Link

Details

PrimaryID51196
RefseqGeneNG_015799
SymbolPLCE1
Namephospholipase C epsilon 1
Chromosome10
Location10q23.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-05
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsPLCE1_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0000187 obsolete activation of MAPK activity
GO:0001558 regulation of cell growth
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0004629 phospholipase C activity
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006651 diacylglycerol biosynthetic process
GO:0006940 regulation of smooth muscle contraction
GO:0007010 cytoskeleton organization
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:0007265 Ras protein signal transduction
GO:0007507 heart development
GO:0008277 regulation of G protein-coupled receptor signaling pathway
GO:0010592 positive regulation of lamellipodium assembly
GO:0016042 lipid catabolic process
GO:0019722 calcium-mediated signaling
GO:0019899 enzyme binding
GO:0030027 lamellipodium
GO:0031267 small GTPase binding
GO:0032835 glomerulus development
GO:0043647 inositol phosphate metabolic process
GO:0045859 regulation of protein kinase activity
GO:0046578 regulation of Ras protein signal transduction
GO:0046872 metal ion binding
GO:0048015 phosphatidylinositol-mediated signaling
GO:0048016 inositol phosphate-mediated signaling

Diseases

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Disease IDSourceNameDescription
610725 OMIMNephrotic syndrome 3 (NPHS3)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

13 interactions