PLCB1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Phospholipase C, beta 1 (phosphoinositide-specific)
Identifiers
Symbols PLCB1 ; EIEE12; PI-PLC; PLC-154; PLC-I; PLC154; PLCB1A; PLCB1B
External IDs OMIM607120 MGI97613 HomoloGene22876 IUPHAR: 1403 ChEMBL: 4034 GeneCards: PLCB1 Gene
EC number 3.1.4.11
RNA expression pattern
PBB GE PLCB1 211925 s at tn.png
PBB GE PLCB1 213222 at tn.png
PBB GE PLCB1 215687 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 23236 18795
Ensembl ENSG00000182621 ENSMUSG00000051177
UniProt Q9NQ66 Q9Z1B3
RefSeq (mRNA) NM_015192 NM_001145830
RefSeq (protein) NP_056007 NP_001139302
Location (UCSC) Chr 20:
8.11 – 8.95 Mb
Chr 2:
134.79 – 135.48 Mb
PubMed search [1] [2]

1-Phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-1 is an enzyme that in humans is encoded by the PLCB1 gene.[1][2][3]

Function[edit]

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.[3]

Interactions[edit]

PLCB1 has been shown to interact with TRPM7.[4]

Pathology[edit]

Homozygous PLCB1 deletion is associated with malignant migrating partial seizures in infancy.[5]

References[edit]

  1. ^ Peruzzi D, Calabrese G, Faenza I, Manzoli L, Matteucci A, Gianfrancesco F et al. (Jun 2000). "Identification and chromosomal localisation by fluorescence in situ hybridisation of human gene of phosphoinositide-specific phospholipase C beta(1)". Biochim. Biophys. Acta 1484 (2-3): 175–82. doi:10.1016/s1388-1981(00)00012-3. PMID 10760467. 
  2. ^ Caricasole A, Sala C, Roncarati R, Formenti E, Terstappen GC (Jan 2001). "Cloning and characterization of the human phosphoinositide-specific phospholipase C-beta 1 (PLC beta 1)". Biochim. Biophys. Acta 1517 (1): 63–72. doi:10.1016/S0167-4781(00)00260-8. PMID 11118617.  Check date values in: |year= / |date= mismatch (help)
  3. ^ a b "Entrez Gene: PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)". 
  4. ^ Runnels LW, Yue L, Clapham DE (May 2002). "The TRPM7 channel is inactivated by PIP(2) hydrolysis". Nat. Cell Biol. 4 (5): 329–36. doi:10.1038/ncb781. PMID 11941371. 
  5. ^ Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E et al. (2012). "Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy". Epilepsia 53 (8): e146–50. doi:10.1111/j.1528-1167.2012.03538.x. PMC 3851296. PMID 22690784. 

Further reading[edit]