Homo sapiens Protein: PLCB1
Summary
InnateDB Protein IDBP-52549.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PLCB1
Protein Name phospholipase C, beta 1 (phosphoinositide-specific)
Synonyms EIEE12; PI-PLC; PLC-154; PLC-I; PLC154; PLCB1A; PLCB1B;
Species Homo sapiens
Ensembl Protein ENSP00000367904
InnateDB Gene IDBG-52543 (PLCB1)
Protein Structure
UniProt Annotation
Function The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes.
Subcellular Localization Nucleus membrane {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes. {ECO:0000250}.
Disease Associations Epileptic encephalopathy, early infantile, 12 (EIEE12) [MIM:613722]: A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high- voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269PubMed:20833646}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 16 [view]
Protein-Protein 11 [view]
Protein-DNA 5 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0004871 signal transducer activity
GO:0005096 GTPase activator activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0008081 phosphoric diester hydrolase activity
GO:0019899 enzyme binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0000086 G2/M transition of mitotic cell cycle
GO:0006629 lipid metabolic process
GO:0007165 signal transduction
GO:0007213 G-protein coupled acetylcholine receptor signaling pathway
GO:0007215 glutamate receptor signaling pathway
GO:0007268 synaptic transmission
GO:0007613 memory
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway
GO:0016042 lipid catabolic process
GO:0021987 cerebral cortex development
GO:0032735 positive regulation of interleukin-12 production
GO:0035556 intracellular signal transduction
GO:0035722 interleukin-12-mediated signaling pathway
GO:0035723 interleukin-15-mediated signaling pathway
GO:0040019 positive regulation of embryonic development
GO:0043547 positive regulation of GTPase activity
GO:0043647 inositol phosphate metabolic process
GO:0044281 small molecule metabolic process
GO:0045663 positive regulation of myoblast differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046330 positive regulation of JNK cascade
GO:0046488 phosphatidylinositol metabolic process
GO:0048009 insulin-like growth factor receptor signaling pathway
GO:0048639 positive regulation of developmental growth
GO:0060466 activation of meiosis involved in egg activation
GO:0070498 interleukin-1-mediated signaling pathway
GO:0080154 regulation of fertilization
GO:1900087 positive regulation of G1/S transition of mitotic cell cycle
GO:2000344 positive regulation of acrosome reaction
GO:2000438 negative regulation of monocyte extravasation
GO:2000560 positive regulation of CD24 biosynthetic process
Cellular Component
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016607 nuclear speck
GO:0031965 nuclear membrane
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR000008 C2 domain
IPR000909 Phospholipase C, phosphatidylinositol-specific , X domain
IPR001192 Phosphoinositide phospholipase C family
IPR001711 Phospholipase C, phosphatidylinositol-specific, Y domain
IPR009535 Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase beta, conserved site
IPR014815 PLC-beta, C-terminal
IPR015359 Phospholipase C, phosphoinositol-specific, EF-hand-like
IPR016280 Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase beta
IPR017946 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain
PFAM PF00168
PF00388
PF00387
PF06631
PF08703
PF09279
PRINTS PR00360
PR00390
PIRSF PIRSF000956
SMART SM00239
SM00148
SM00149
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NQ66
PhosphoSite PhosphoSite-Q9NQ66
TrEMBL
UniProt Splice Variant
Entrez Gene 23236
UniGene Hs.662314
RefSeq
HUGO HGNC:15917
OMIM 607120
CCDS CCDS13103
HPRD 06177
IMGT
EMBL AB011153 AJ278313 AJ278314 AK023689 AL031683 AL034551 AL049593 AL049632 AL050315 AL050323 AL137267 AY004175 BC069420 BC117231 CH471133
GenPept AAF86613 AAH69420 AAI17232 BAA25507 BAB14641 CAB70666 CAB98142 CAB98143 CAI21973 CAI21974 CAI22175 CAI22830 CAI22831 CAI42238 CAI42239 CAI43121 CAI43122 CAI43151 CAI43152 EAX10372 EAX10373 EAX10374 EAX10376