Entity Details

Primary name PLCB1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NQ66
EntryNamePLCB1_HUMAN
FullName1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1
TaxID9606
Evidenceevidence at protein level
Length1216
SequenceStatuscomplete
DateCreated2001-01-11
DateModified2021-06-02

Ontological Relatives

GenesPLCB1

GO terms

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GOName
GO:0000086 G2/M transition of mitotic cell cycle
GO:0000785 chromatin
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0005096 GTPase activator activity
GO:0005509 calcium ion binding
GO:0005516 calmodulin binding
GO:0005521 lamin binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0007165 signal transduction
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007213 G protein-coupled acetylcholine receptor signaling pathway
GO:0007215 glutamate receptor signaling pathway
GO:0007223 Wnt signaling pathway, calcium modulating pathway
GO:0007613 memory
GO:0008277 regulation of G protein-coupled receptor signaling pathway
GO:0016042 lipid catabolic process
GO:0016607 nuclear speck
GO:0019899 enzyme binding
GO:0021987 cerebral cortex development
GO:0031965 nuclear membrane
GO:0032735 positive regulation of interleukin-12 production
GO:0032991 protein-containing complex
GO:0035722 interleukin-12-mediated signaling pathway
GO:0035723 interleukin-15-mediated signaling pathway
GO:0040019 positive regulation of embryonic development
GO:0042802 identical protein binding
GO:0043647 inositol phosphate metabolic process
GO:0045444 fat cell differentiation
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:0048015 phosphatidylinositol-mediated signaling
GO:0048639 positive regulation of developmental growth
GO:0060466 activation of meiosis involved in egg activation
GO:0070062 extracellular exosome
GO:0070498 interleukin-1-mediated signaling pathway
GO:0080154 regulation of fertilization
GO:0098794 postsynapse
GO:0098978 glutamatergic synapse
GO:0098982 GABA-ergic synapse
GO:0099170 postsynaptic modulation of chemical synaptic transmission
GO:0099178 regulation of retrograde trans-synaptic signaling by endocanabinoid
GO:1900087 positive regulation of G1/S transition of mitotic cell cycle
GO:1903140 regulation of establishment of endothelial barrier
GO:2000344 positive regulation of acrosome reaction
GO:2000438 negative regulation of monocyte extravasation
GO:2000560 positive regulation of CD24 production

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus membrane

Domains

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DomainNameCategoryType
IPR000008 C2 domainDomainDomain
IPR000909 Phosphatidylinositol-specific phospholipase C, X domainDomainDomain
IPR001192 Phosphoinositide phospholipase C familyFamilyFamily
IPR001711 Phospholipase C, phosphatidylinositol-specific, Y domainDomainDomain
IPR009535 Phospholipase C-beta, conserved siteSiteConserved site
IPR011992 EF-hand domain pairFamilyHomologous superfamily
IPR014815 Phospholipase C-beta, C-terminal domainDomainDomain
IPR015359 Phosphoinositide-specific phospholipase C, EF-hand-like domainDomainDomain
IPR016280 Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase betaFamilyFamily
IPR017946 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamilyFamilyHomologous superfamily
IPR028400 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1FamilyFamily
IPR035892 C2 domain superfamilyFamilyHomologous superfamily
IPR037862 PLC-beta, PH domainDomainDomain
IPR042531 Phospholipase C-beta, C-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613722 OMIMDevelopmental and epileptic encephalopathy 12 (DEE12)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. The disease is caused by variants affecting the gene represented in this entry.