Entity Details

Primary name PLCD1
Entity type gene
Source Source Link

Details

PrimaryID5333
RefseqGeneNG_031922
SymbolPLCD1
Namephospholipase C delta 1
Chromosome3
Location3p22.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPLCD1_HUMAN

GO terms

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GOName
GO:0001786 phosphatidylserine binding
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0005509 calcium ion binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0006644 phospholipid metabolic process
GO:0016042 lipid catabolic process
GO:0032794 GTPase activating protein binding
GO:0043647 inositol phosphate metabolic process
GO:0046488 phosphatidylinositol metabolic process
GO:0048015 phosphatidylinositol-mediated signaling
GO:0070062 extracellular exosome
GO:0070300 phosphatidic acid binding

Diseases

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Disease IDSourceNameDescription
151600 OMIMNail disorder, non-syndromic congenital, 3 (NDNC3)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). The disease is caused by variants affecting the gene represented in this entry.