Entity Details

Primary name PLCE1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9P212
EntryNamePLCE1_HUMAN
FullName1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
TaxID9606
Evidenceevidence at protein level
Length2302
SequenceStatuscomplete
DateCreated2006-10-31
DateModified2021-06-02

Ontological Relatives

GenesPLCE1

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

Subcellular Location

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Subcellular Location
Cell membrane
Cell projection
Cytoplasm
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR000008 C2 domainDomainDomain
IPR000159 Ras-associating (RA) domainDomainDomain
IPR000909 Phosphatidylinositol-specific phospholipase C, X domainDomainDomain
IPR001192 Phosphoinositide phospholipase C familyFamilyFamily
IPR001711 Phospholipase C, phosphatidylinositol-specific, Y domainDomainDomain
IPR001895 Ras guanine-nucleotide exchange factors catalytic domainDomainDomain
IPR011992 EF-hand domain pairFamilyHomologous superfamily
IPR015359 Phosphoinositide-specific phospholipase C, EF-hand-like domainDomainDomain
IPR017946 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamilyFamilyHomologous superfamily
IPR023578 Ras guanine nucleotide exchange factor domain superfamilyFamilyHomologous superfamily
IPR028398 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1FamilyFamily
IPR029071 Ubiquitin-like domain superfamilyFamilyHomologous superfamily
IPR035892 C2 domain superfamilyFamilyHomologous superfamily

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.