PLCD1 (phospholipase C delta 1)

Gene

• Entrez ID: 5333
• Gene name: Phospholipase C delta 1
• Gene symbol: PLCD1
• Synonyms: NDNC3, PLC-III
• Chromosome: 3
• Chromosome location: 3p22.2
• Summary: This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs375683615	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs397514470	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs397514471	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1210583991	CACTACAGGC>-	Pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018905	hsa-miR-335-5p	Microarray	18185580
MIRT738005	hsa-miR-17-3p	PAR-CLIP	26701625
MIRT738255	hsa-miR-185-5p	PAR-CLIP	26701625
MIRT741837	hsa-miR-363-5p	PAR-CLIP	26701625
MIRT743911	hsa-miR-4306	PAR-CLIP	26701625
MIRT744624	hsa-miR-4446-3p	PAR-CLIP	26701625
MIRT746383	hsa-miR-4644	PAR-CLIP	26701625
MIRT747558	hsa-miR-4721	PAR-CLIP	26701625
MIRT748155	hsa-miR-4743-5p	PAR-CLIP	26701625
MIRT749949	hsa-miR-5192	PAR-CLIP	26701625
MIRT752826	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT754464	hsa-miR-6745	PAR-CLIP	26701625
MIRT756438	hsa-miR-6804-5p	PAR-CLIP	26701625
MIRT757112	hsa-miR-6829-5p	PAR-CLIP	26701625
MIRT758320	hsa-miR-6880-5p	PAR-CLIP	26701625

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001786	Function	Phosphatidylserine binding	IEA
GO:0004435	Function	Phosphatidylinositol phospholipase C activity	IBA	21873635
GO:0004435	Function	Phosphatidylinositol phospholipase C activity	IDA	9188725
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	9188725, 11001876
GO:0005737	Component	Cytoplasm	IDA	15702972
GO:0005886	Component	Plasma membrane	TAS
GO:0006644	Process	Phospholipid metabolic process	TAS	9588182
GO:0016042	Process	Lipid catabolic process	IEA
GO:0032794	Function	GTPase activating protein binding	IPI	18434237
GO:0043647	Process	Inositol phosphate metabolic process	TAS
GO:0046488	Process	Phosphatidylinositol metabolic process	IDA	9188725
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070300	Function	Phosphatidic acid binding	IEA

Other IDs

• MIM: 602142
• HGNC: 9060
• e!Ensembl: ENSG00000187091

Protein

• UniProt ID: P51178
• Protein name: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 (EC 3.1.4.11) (Phosphoinositide phospholipase C-delta-1) (Phospholipase C-III) (PLC-III) (Phospholipase C-delta-1) (PLC-delta-1)
• Protein function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes (PubMed:9188725). Essential for trophoblast and placental development (By similarity). Binds phosphatidylinositol 4,5-bisphosphate (PubMed:7890667, PubMed:9188725).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09279	EF-hand_like	204 → 289	Phosphoinositide-specific phospholipase C, efhand-like	Domain
  PF00388	PI-PLC-X	298 → 441	Phosphatidylinositol-specific phospholipase C, X domain	Family
  PF00387	PI-PLC-Y	492 → 607	Phosphatidylinositol-specific phospholipase C, Y domain	Family
  PF00168	C2	629 → 737	C2 domain	Domain

• Sequence:

  MDSGRDFLTLHGLQDDEDLQALLKGSQLLKVKSSSWRRERFYKLQEDCKTIWQESRKVMR
  TPESQLFSIEDIQEVRMGHRTEGLEKFARDVPEDRCFSIVFKDQRNTLDLIAPSPADAQH
  WVLGLHKIIHHSGSMDQRQKLQHWIHSCLRKADKNKDNKMSFKELQNFLKELNIQVDDSY
  ARKIFRECDHSQTDSLEDEEIEAFYKMLTQRVEIDRTFAEAAGSGETLSVDQLVTFLQHQ
  QREEAAGPALALSLIERYEPSETAKAQRQMTKDGFLMYLLSADGSAFSLAHRRVYQDMGQ
  PLSHYLVSSSHNTYLLEDQLAGPSSTEAYIRALCKGCRCLELDCWDGPNQEPIIYHGYTF
  TSKILFCDVLRAIRDYAFKASPYPVILSLENHCTLEQQRVMARHLHAILGPMLLNRPLDG
  VTNSLPSPEQLKGKILLKGKKLGGLLPPGGEGGPEATVVSDEDEAAEMEDEAVRSRVQHK
  PKEDKLRLAQELSDMVIYCKSVHFGGFSSPGTPGQAFYEMASFSENRALRLLQESGNGFV
  RHNVGHLSRIYPAGWRTDSSNYSPVEMWNGGCQIVALNFQTPGPEMDVYQGRFQDNGACG
  YVLKPAFLRDPNGTFNPRALAQGPWWARKRLNIRVISGQQLPKVNKNKNSIVDPKVTVEI
  HGVSRDVASRQTAVITNNGFNPWWDTEFAFEVVVPDLALIRFLVEDYDASSKNDFIGQST
  IPLNSLKQGYRHVHLMSKNGDQHPSATLFVKISLQD

• Sequence length: 756