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PLCB1

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PLCB1
Identifiers
AliasesPLCB1, EIEE12, PI-PLC, PLC-154, PLC-I, PLC154, PLCB1A, PLCB1B, PLC-beta-1, phospholipase C beta 1, DEE12
External IDsOMIM: 607120; MGI: 97613; HomoloGene: 22876; GeneCards: PLCB1; OMA:PLCB1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 2: 134.63 – 135.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

1-Phosphatidylinositol-4,5-bisphosphate phospholipase beta-1 is an enzyme that in humans is encoded by the PLCB1 gene.[5][6][7]

Function

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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

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

Pathology

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182621Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051177Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)".
  8. ^ 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. S2CID 21592843.
  9. ^ 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 3851296. PMID 22690784.

Further reading

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