LMPD Database

LMP005023

UniProt Annotations

Entry Information
Gene Namephospholipase C, epsilon 1
Protein EntryPLCE1_HUMAN
UniProt IDQ9P212
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; Synonyms=PLCepsilon1a; IsoId=Q9P212-1; Sequence=Displayed; Name=2; Synonyms=PLCepsilon1b; IsoId=Q9P212-2; Sequence=VSP_021335, VSP_021336; Note=Ref.2 (AAG28341) sequence is in conflict in position: 69:L->P. ;
Catalytic Activity1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol. {ECO
CofactorName=Ca(2+); Xref=ChEBI
DiseaseNephrotic syndrome 3 (NPHS3) [MIM
DomainThe Ras-associating domain 1 is degenerated and may not bind HRAS. The Ras-associating domain 2 mediates interaction with GTP-bound HRAS, RAP1A, RAP2A and RAP2B and recruitment of HRAS to the cell membrane.
DomainThe Ras-GEF domain has a GEF activity towards HRAS and RAP1A. Mediates activation of the mitogen-activated protein kinase pathway.
Enzyme RegulationActivated by the heterotrimeric G-protein subunits GNA12, GNA13 and GNB1-GNG2. Activated by HRAS, RAP1A, RHOA, RHOB, RHOC, RRAS and RRAS2. Activated by the G(s)-coupled GPCRs ADRB2, PTGER1 and CHRM3 through cyclic-AMP formation and RAP2B activation. Inhibited by G(i)-coupled GPCRs. {ECO
FunctionThe 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
InductionOverexpressed during heart failure.
Sequence CautionSequence=AAF22005.1; Type=Frameshift; Positions=1131; Evidence= ; Sequence=AAG17145.2; Type=Frameshift; Positions=2296; Evidence= ; Sequence=BAA96040.2; Type=Erroneous initiation; Evidence= ; Sequence=BAB14090.1; Type=Erroneous initiation; Evidence= ; Sequence=CAH70739.1; Type=Erroneous gene model prediction; Evidence= ; Sequence=CAH73288.1; Type=Erroneous gene model prediction; Evidence= ; Sequence=CAH73757.1; Type=Erroneous gene model prediction; Evidence= ; Sequence=CAI16674.1; Type=Erroneous gene model prediction; Evidence= ;
SimilarityContains 1 C2 domain. {ECO
SimilarityContains 1 PI-PLC X-box domain. {ECO
SimilarityContains 1 PI-PLC Y-box domain. {ECO
SimilarityContains 1 Ras-GEF domain. {ECO
SimilarityContains 2 Ras-associating domains.
Subcellular LocationCytoplasm, 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.
SubunitInteracts with RHOA (By similarity). Interacts with IQGAP1, HRAS, RAP1A, RAP2A, RAP2B and RRAS. {ECO
Tissue SpecificityWidely expressed. Isoform 1 is broadly expressed and only absent in peripheral blood leukocytes. Isoform 2 is specifically expressed in placenta, lung and spleen. {ECO