Entity Details

Primary name PLCB4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ15147
EntryNamePLCB4_HUMAN
FullName1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4
TaxID9606
Evidenceevidence at protein level
Length1175
SequenceStatuscomplete
DateCreated2001-01-11
DateModified2021-06-02

Ontological Relatives

GenesPLCB4

GO terms

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GOName
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0004629 phospholipase C activity
GO:0005509 calcium ion binding
GO:0005634 nucleus
GO:0005790 smooth endoplasmic reticulum
GO:0005829 cytosol
GO:0007186 G protein-coupled receptor signaling pathway
GO:0014069 postsynaptic density
GO:0016042 lipid catabolic process
GO:0030425 dendrite
GO:0043647 inositol phosphate metabolic process
GO:0048015 phosphatidylinositol-mediated signaling
GO:0050804 modulation of chemical synaptic transmission
GO:0098688 parallel fiber to Purkinje cell synapse
GO:0098978 glutamatergic synapse

Subcellular Location

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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
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
614669 OMIMAuriculocondylar syndrome 2 (ARCND2)A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions