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MGP004616

UniProt Annotations

Entry Information
Gene Namephospholipase C, beta 1 (phosphoinositide-specific)
Protein EntryPLCB1_HUMAN
UniProt IDQ9NQ66
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=A; IsoId=Q9NQ66-1; Sequence=Displayed; Name=B; IsoId=Q9NQ66-2; Sequence=VSP_004718;
Catalytic Activity1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.
CofactorName=Ca(2+); Xref=ChEBI:CHEBI:29108;
DiseaseEpileptic encephalopathy, early infantile, 12 (EIEE12) [MIM:613722]: A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high- voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269|PubMed:20833646}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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.
MiscellaneousThe receptor-mediated activation of PLC-beta-1 is mediated by two G-protein alpha subunits, alpha-Q and alpha-11.
Sequence CautionSequence=BAA25507.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB14641.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityContains 1 C2 domain. {ECO:0000255|PROSITE- ProRule:PRU00041}.
SimilarityContains 1 PI-PLC X-box domain. {ECO:0000255|PROSITE- ProRule:PRU00270}.
SimilarityContains 1 PI-PLC Y-box domain. {ECO:0000255|PROSITE- ProRule:PRU00271}.
Subcellular LocationNucleus membrane {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes. {ECO:0000250}.
SubunitInteracts with DGKQ. {ECO:0000269|PubMed:12799190}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PLCB1ID41742ch20p12.html";
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