Aliases for PLCB1 Gene
External Ids for PLCB1 Gene
Previous GeneCards Identifiers for PLCB1 Gene
The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for PLCB1 Gene
PLCB1 (Phospholipase C, Beta 1 (Phosphoinositide-Specific)) is a Protein Coding gene. Diseases associated with PLCB1 include epileptic encephalopathy, early infantile, 12 and malignant migrating partial seizures of infancy. Among its related pathways are GPCR Pathway and Ras signaling pathway. GO annotations related to this gene include calcium ion binding and signal transducer activity. An important paralog of this gene is PLCH1.
UniProtKB/Swiss-Prot for PLCB1 Gene
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
Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. PLC is subdivided into beta, gamma, delta, epsilon, zeta and eta subtypes, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to inositol 1,4,5-trisphosphate (IP3) and 1,2-diacylglycerol (DAG). IP3 and DAG both have important second messenger functions. PLC-beta is primarily activated by Gq/11 proteins and PLC-gamma is activated by phosphorylation in response to a variety of growth factor and immune system signals. Phospholipases are ubiquitously expressed and have diverse biological functions including roles in inflammation, cell growth, signaling and death and maintenance of membrane phospholipids.