MGP Database

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MGP002315

UniProt Annotations

Entry Information
Gene Namephospholipase C, beta 4
Protein EntryPLCB4_HUMAN
UniProt IDQ15147
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist.; Name=2; IsoId=Q15147-1; Sequence=Displayed; Name=1; IsoId=Q15147-2; Sequence=VSP_004721, VSP_004722; Name=3; IsoId=Q15147-4; Sequence=VSP_037818; Note=No experimental confirmation available.; Name=4; IsoId=Q15147-5; Sequence=VSP_055182; Note=No experimental confirmation available.;
Catalytic Activity1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.
CofactorName=Ca(2+); Xref=ChEBI:CHEBI:29108;
DiseaseAuriculocondylar syndrome 2 (ARCND2) [MIM:614669]: 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. {ECO:0000269|PubMed:22560091}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThe production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This form has a role in retina signal transduction.
SimilarityContains 1 C2 domain. {ECO:0000255|PROSITE- ProRule:PRU00041}.
SimilarityContains 1 PI-PLC X-box domain. {ECO:0000255|PROSITE- ProRule:PRU00270}.
SimilarityContains 1 PI-PLC Y-box domain. {ECO:0000255|PROSITE- ProRule:PRU00271}.
Tissue SpecificityPreferentially expressed in the retina.
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