MGP Database

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MGP002316

UniProt Annotations

Entry Information
Gene Namephospholipase C, delta 1
Protein EntryPLCD1_HUMAN
UniProt IDP51178
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51178-1; Sequence=Displayed; Name=2; IsoId=P51178-2; Sequence=VSP_042919; 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; Evidence={ECO:0000250}; Note=Binds 3 Ca(2+) ions per subunit. Two of the Ca(2+) ions are bound to the C2 domain. {ECO:0000250};
DiseaseNail disorder, non-syndromic congenital, 3 (NDNC3) [MIM:151600]: A nail disorder characterized by a white appearance of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata). {ECO:0000269|PubMed:21665001}. 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. Essential for trophoblast and placental development.
SimilarityContains 1 C2 domain. {ECO:0000255|PROSITE- ProRule:PRU00041}.
SimilarityContains 1 PH domain. {ECO:0000255|PROSITE- ProRule:PRU00145}.
SimilarityContains 1 PI-PLC X-box domain. {ECO:0000255|PROSITE- ProRule:PRU00270}.
SimilarityContains 1 PI-PLC Y-box domain. {ECO:0000255|PROSITE- ProRule:PRU00271}.
SimilarityContains 2 EF-hand domains. {ECO:0000255|PROSITE- ProRule:PRU00448}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PLCD1ID43927ch3p22.html";
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