PLCB1

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PLCB1
Identifiers
Aliases PLCB1, EIEE12, PI-PLC, PLC-154, PLC-I, PLC154, PLCB1A, PLCB1B, PLC-beta-1, phospholipase C beta 1
External IDs MGI: 97613 HomoloGene: 22876 GeneCards: PLCB1
Genetically Related Diseases
non-small cell lung carcinoma[1]
RNA expression pattern
PBB GE PLCB1 215687 x at fs.png

PBB GE PLCB1 213222 at fs.png

PBB GE PLCB1 211925 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015192
NM_182734

NM_001145830
NM_019677

RefSeq (protein)

NP_056007
NP_877398

NP_001139302.1
NP_062651.2
NP_001139302
NP_062651

Location (UCSC) Chr 20: 8.08 – 8.97 Mb Chr 2: 134.79 – 135.48 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

1-Phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-1 is an enzyme that in humans is encoded by the PLCB1 gene.[4][5][6]

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.[6]

Interactions[edit]

PLCB1 has been shown to interact with TRPM7.[7]

Pathology[edit]

Homozygous PLCB1 deletion is associated with malignant migrating partial seizures in infancy.[8]

References[edit]

  1. ^ "Diseases that are genetically associated with PLCB1 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ Peruzzi D, Calabrese G, Faenza I, Manzoli L, Matteucci A, Gianfrancesco F, Billi AM, Stuppia L, Palka G, Cocco L (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. 
  5. ^ 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. 
  6. ^ a b "Entrez Gene: PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)". 
  7. ^ 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. 
  8. ^ Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stödberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV (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 3851296Freely accessible. PMID 22690784. 

Further reading[edit]