PLCB1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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

AliasesPLCB1, EIEE12, PI-PLC, PLC-154, PLC-I, PLC154, PLCB1A, PLCB1B, PLC-beta-1, phospholipase C beta 1, DEE12
End8,968,360 bp[1]
Quick facts Identifiers, Aliases ...
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]
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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 enzyme 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]

References

Further reading

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