Entity Details

Primary name PLCB3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ01970
EntryNamePLCB3_HUMAN
FullName1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3
TaxID9606
Evidenceevidence at protein level
Length1234
SequenceStatuscomplete
DateCreated1993-07-01
DateModified2021-06-02

Ontological Relatives

GenesPLCB3

GO terms

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GOName
GO:0003073 regulation of systemic arterial blood pressure
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0004629 phospholipase C activity
GO:0005509 calcium ion binding
GO:0005516 calmodulin binding
GO:0005634 nucleus
GO:0005829 cytosol
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007223 Wnt signaling pathway, calcium modulating pathway
GO:0016020 membrane
GO:0016042 lipid catabolic process
GO:0032991 protein-containing complex
GO:0043647 inositol phosphate metabolic process
GO:0045296 cadherin binding
GO:0046488 phosphatidylinositol metabolic process
GO:0048015 phosphatidylinositol-mediated signaling
GO:0099524 postsynaptic cytosol

Subcellular Location

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Subcellular Location
Cytoplasm
Membrane
Nucleus

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
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
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
618961 OMIMSpondylometaphyseal dysplasia with corneal dystrophy (SMDCD)An autosomal recessive disorder characterized by postnatal growth deficiency, profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding, and intellectual disability. The disease is caused by variants affecting the gene represented in this entry.