Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	5333
Gene name	Phospholipase C delta 1
Gene symbol	PLCD1
Synonyms (NCBI Gene)	NDNC3PLC-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 diacylglyce

Show/Hide all (4)

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

Show/Hide all (46)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018905	hsa-miR-335-5p	Microarray	18185580
MIRT1239777	hsa-miR-1258	CLIP-seq
MIRT1239778	hsa-miR-1321	CLIP-seq
MIRT1239779	hsa-miR-15a	CLIP-seq
MIRT1239780	hsa-miR-15b	CLIP-seq
MIRT1239781	hsa-miR-16	CLIP-seq
MIRT1239782	hsa-miR-1827	CLIP-seq
MIRT1239783	hsa-miR-1915	CLIP-seq
MIRT1239784	hsa-miR-195	CLIP-seq
MIRT1239785	hsa-miR-2355-5p	CLIP-seq
MIRT1239786	hsa-miR-3117-5p	CLIP-seq
MIRT1239787	hsa-miR-3166	CLIP-seq
MIRT1239788	hsa-miR-3612	CLIP-seq
MIRT1239789	hsa-miR-378g	CLIP-seq
MIRT1239790	hsa-miR-424	CLIP-seq
MIRT1239791	hsa-miR-4270	CLIP-seq
MIRT1239792	hsa-miR-4281	CLIP-seq
MIRT1239793	hsa-miR-4441	CLIP-seq
MIRT1239794	hsa-miR-4515	CLIP-seq
MIRT1239795	hsa-miR-4739	CLIP-seq
MIRT1239796	hsa-miR-4756-5p	CLIP-seq
MIRT1239797	hsa-miR-497	CLIP-seq
MIRT1239798	hsa-miR-650	CLIP-seq
MIRT1239799	hsa-miR-922	CLIP-seq
MIRT1239778	hsa-miR-1321	CLIP-seq
MIRT1239782	hsa-miR-1827	CLIP-seq
MIRT1239783	hsa-miR-1915	CLIP-seq
MIRT1239785	hsa-miR-2355-5p	CLIP-seq
MIRT1239788	hsa-miR-3612	CLIP-seq
MIRT1239791	hsa-miR-4270	CLIP-seq
MIRT1239792	hsa-miR-4281	CLIP-seq
MIRT1239793	hsa-miR-4441	CLIP-seq
MIRT1239795	hsa-miR-4739	CLIP-seq
MIRT1239796	hsa-miR-4756-5p	CLIP-seq
MIRT1239798	hsa-miR-650	CLIP-seq
MIRT1239778	hsa-miR-1321	CLIP-seq
MIRT1239782	hsa-miR-1827	CLIP-seq
MIRT1239783	hsa-miR-1915	CLIP-seq
MIRT1239785	hsa-miR-2355-5p	CLIP-seq
MIRT1239788	hsa-miR-3612	CLIP-seq
MIRT1239791	hsa-miR-4270	CLIP-seq
MIRT1239792	hsa-miR-4281	CLIP-seq
MIRT1239793	hsa-miR-4441	CLIP-seq
MIRT1239795	hsa-miR-4739	CLIP-seq
MIRT1239796	hsa-miR-4756-5p	CLIP-seq
MIRT1239798	hsa-miR-650	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001786	Function	Phosphatidylserine binding	IEA
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IBA
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IDA	9188725
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IEA
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	TAS	9588182
GO:0004629	Function	Phospholipase C activity	IEA
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	IBA
GO:0005737	Component	Cytoplasm	IDA	15702972
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	TAS	9588182
GO:0007165	Process	Signal transduction	IEA
GO:0008081	Function	Phosphoric diester hydrolase activity	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0032794	Function	GTPase activating protein binding	IPI	18434237
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0043168	Function	Anion binding	IEA
GO:0046488	Process	Phosphatidylinositol metabolic process	IDA	9188725
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070300	Function	Phosphatidic acid binding	IEA
GO:0120548	Function	Phosphatidylinositol phospholipase C activity	IEA
GO:0141212	Process	Phospholipase C/protein kinase C signal transduction	IDA	18434237
GO:1901981	Function	Phosphatidylinositol phosphate binding	IEA

MIM	HGNC	e!Ensembl
602142	9060	ENSG00000187091

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

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

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in lung, liver and heart. Also expressed at least in pancreas, kidney, skeletal muscle, placenta and brain. {ECO:0000269|PubMed:7890667}.

Sequence

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

Sequence length

756

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Nonsyndromic congenital nail disorder 3	Likely pathogenic; Pathogenic	rs201094715, rs397514470, rs1210583991, rs397514471	RCV005362932 RCV002508129 RCV002508130 RCV002508132
PLCD1-related disorder	Likely pathogenic	rs760879574	RCV003419177

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs73060833	RCV005923873
Cholangiocarcinoma	Benign	rs61755441	RCV005917288
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs73060833	RCV005923883
Colon adenocarcinoma	Benign	rs61755441	RCV005917282
Familial pancreatic carcinoma	Benign	rs73060833	RCV005923877
Lung cancer	Benign	rs73060833	RCV005923881
Lymphoma	Benign	rs73060833	RCV005923879
Malignant lymphoma, large B-cell, diffuse	Benign	rs61755441, rs73060833	RCV005917285 RCV005923878
Malignant tumor of esophagus	Benign	rs61755441, rs73060833	RCV005917283 RCV005923874
Nonpapillary renal cell carcinoma	Benign	rs61755441, rs73060833	RCV005917284 RCV005923875
Ovarian cancer	Benign	rs73060833	RCV005923876
Ovarian serous cystadenocarcinoma	Likely benign	rs138396052	RCV005938817
Primary degenerative dementia of the Alzheimer type, presenile onset	Uncertain significance	rs752156828	RCV001090106
Thymoma	Benign	rs61755441, rs73060833	RCV005917287 RCV005923880
Thyroid cancer, nonmedullary, 1	Likely benign	rs200321901	RCV005906342
Uterine carcinosarcoma	Benign	rs61755441	RCV005917286
Uterine corpus endometrial carcinoma	Benign	rs61755441, rs72864000, rs73060833	RCV005917289 RCV005922062 RCV005923882

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aortic Aneurysm Abdominal	Associate	37228901
Breast Neoplasms	Associate	20657189
Carcinoma Pancreatic Ductal	Stimulate	31808619
Carcinoma Renal Cell	Associate	36849889
Colorectal Neoplasms	Inhibit	21909432, 25197077
Communicable Diseases	Associate	19008404
Cysts	Associate	31082376, 31543210
Dementia	Associate	31836585
Down Syndrome	Associate	27293319
Endometrial Neoplasms	Associate	32170852
Genetic Diseases Inborn	Associate	31082376
Hypospadias	Associate	32728162
Leukonychia totalis	Associate	21665001
Myostatin related muscle hypertrophy	Associate	28375666
Neoplasms	Inhibit	20657189, 21909432, 25197077, 29290793, 36849889
Neoplasms	Associate	29115528, 31082376, 34727930
Neoplastic Syndromes Hereditary	Associate	21665001, 33786625
Trichilemmal Cyst 1	Associate	31082376, 31543210

PLCD1 (phospholipase C delta 1)