PLCB1
Identifiers
Aliases	PLCB1, EIEE12, PI-PLC, PLC-154, PLC-I, PLC154, PLCB1A, PLCB1B, PLC-beta-1, phospholipase C beta 1, DEE12
External IDs	OMIM: 607120 MGI: 97613 HomoloGene: 22876 GeneCards: PLCB1
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p12.3 Start 8,077,251 bp[1] End 8,968,360 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 F3|2 65.66 cM Start 134,627,987 bp[2] End 135,317,178 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell Brodmann area 23 superior frontal gyrus middle temporal gyrus postcentral gyrus Brodmann area 10 Brodmann area 46 frontal pole entorhinal cortex parotid gland Top expressed in olfactory tubercle subiculum Region I of hippocampus proper globus pallidus facial motor nucleus piriform cortex primary motor cortex anterior horn of spinal cord superior frontal gyrus superior colliculus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding protein homodimerization activity GTPase activator activity signal transducer activity protein binding phosphoric diester hydrolase activity enzyme binding phosphatidylinositol-4,5-bisphosphate binding hydrolase activity lamin binding phosphatidylinositol phospholipase C activity phospholipase C activity calmodulin binding Cellular component cytoplasm cytosol nuclear speck nuclear membrane membrane myelin sheath extracellular exosome nucleus postsynapse glutamatergic synapse GABA-ergic synapse protein-containing complex Biological process G protein-coupled acetylcholine receptor signaling pathway glutamate receptor signaling pathway insulin-like growth factor receptor signaling pathway interleukin-15-mediated signaling pathway intracellular signal transduction positive regulation of developmental growth phosphatidylinositol metabolic process negative regulation of monocyte extravasation positive regulation of interleukin-12 production regulation of G protein-coupled receptor signaling pathway lipid metabolism inositol phosphate metabolic process positive regulation of JNK cascade memory regulation of cell cycle positive regulation of transcription, DNA-templated lipid catabolic process positive regulation of G1/S transition of mitotic cell cycle interleukin-1-mediated signaling pathway positive regulation of acrosome reaction brain development G2/M transition of mitotic cell cycle interleukin-12-mediated signaling pathway positive regulation of myoblast differentiation positive regulation of CD24 production cerebral cortex development activation of meiosis involved in egg activation regulation of fertilization positive regulation of embryonic development negative regulation of transcription, DNA-templated fat cell differentiation signal transduction Wnt signaling pathway, calcium modulating pathway positive regulation of GTPase activity G protein-coupled receptor signaling pathway postsynaptic modulation of chemical synaptic transmission regulation of retrograde trans-synaptic signaling by endocanabinoid inositol trisphosphate biosynthetic process phosphatidylinositol-mediated signaling release of sequestered calcium ion into cytosol Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23236 18795 Ensembl ENSG00000182621 ENSMUSG00000051177 UniProt Q9NQ66 Q9Z1B3 RefSeq (mRNA) NM_015192 NM_182734 NM_001145830 NM_019677 RefSeq (protein) NP_056007 NP_877398 NP_001139302 NP_062651 Location (UCSC) Chr 20: 8.08 – 8.97 Mb Chr 2: 134.63 – 135.32 Mb PubMed search [3] [4]
Wikidata
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1-Phosphatidylinositol-4,5-bisphosphate phospholipase beta-1 is an enzyme that in humans is encoded by the PLCB1 gene.^[5][6][7]

Function

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.^[7]

Interactions

PLCB1 has been shown to interact with TRPM7.^[8]

Pathology

Homozygous PLCB1 deletion is associated with malignant migrating partial seizures in infancy.^[9]