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Gene id

5333

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

PLCD1 Gene UCSC Ensembl

Aliases

NDNC3, PLC-III

Gene name

phospholipase C delta 1

Alternate names

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1, PLC-delta-1, phosphoinositide phospholipase C-delta-1, phospholipase C-III,

Gene location

3p22.2 (38029662: 38007495) Exons: 16 NC_000003.12

Gene summary(Entrez)

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]

OMIM

602142

Protein Summary

Protein general information

P51178

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)

Length: 756 Mass: 85,665

Sequence

MDSGRDFLTLHGLQDDEDLQALLKGSQLLKVKSSSWRRERFYKLQEDCKTIWQESRKVMRTPESQLFSIEDIQEV
RMGHRTEGLEKFARDVPEDRCFSIVFKDQRNTLDLIAPSPADAQHWVLGLHKIIHHSGSMDQRQKLQHWIHSCLR
KADKNKDNKMSFKELQNFLKELNIQVDDSYARKIFRECDHSQTDSLEDEEIEAFYKMLTQRVEIDRTFAEAAGSG
ETLSVDQLVTFLQHQQREEAAGPALALSLIERYEPSETAKAQRQMTKDGFLMYLLSADGSAFSLAHRRVYQDMGQ
PLSHYLVSSSHNTYLLEDQLAGPSSTEAYIRALCKGCRCLELDCWDGPNQEPIIYHGYTFTSKILFCDVLRAIRD
YAFKASPYPVILSLENHCTLEQQRVMARHLHAILGPMLLNRPLDGVTNSLPSPEQLKGKILLKGKKLGGLLPPGG
EGGPEATVVSDEDEAAEMEDEAVRSRVQHKPKEDKLRLAQELSDMVIYCKSVHFGGFSSPGTPGQAFYEMASFSE
NRALRLLQESGNGFVRHNVGHLSRIYPAGWRTDSSNYSPVEMWNGGCQIVALNFQTPGPEMDVYQGRFQDNGACG
YVLKPAFLRDPNGTFNPRALAQGPWWARKRLNIRVISGQQLPKVNKNKNSIVDPKVTVEIHGVSRDVASRQTAVI
TNNGFNPWWDTEFAFEVVVPDLALIRFLVEDYDASSKNDFIGQSTIPLNSLKQGYRHVHLMSKNGDQHPSATLFV
KISLQD

Structural information

Protein Domains	PH. (21-130) EF-hand (140-175) EF-hand (176-211) PI-PLC (296-440)
Interpro:	IPR000008 IPR011992 IPR018247 IPR002048 IPR011993 IPR001849 IPR001192 IPR028391 IPR017946 IPR015359 IPR000909 IPR001711
Prosite:	PS50004 PS00018 PS50222 PS50003 PS50007 PS50008
Pfam:	PF00168 PF09279 PF00388 PF00387
MINT:	107564
STRING:	ENSP00000430344;

Other Databases

GeneCards: PLCD1; Malacards: PLCD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001525	angiogenesis	IEA	biological_process
GO:0001786	phosphatidylserine bindin g	IEA	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	TAS	molecular_function
GO:0004871	signal transducer activit y	IEA	molecular_function
GO:0005509	calcium ion binding	IEA	molecular_function
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006644	phospholipid metabolic pr ocess	TAS	biological_process
GO:0016042	lipid catabolic process	IEA	biological_process
GO:0032794	GTPase activating protein binding	IPI	molecular_function
GO:0035556	intracellular signal tran sduction	IEA	biological_process
GO:0042127	regulation of cell prolif eration	IEA	biological_process
GO:0043647	inositol phosphate metabo lic process	TAS	biological_process
GO:0060716	labyrinthine layer blood vessel development	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070300	phosphatidic acid binding	IEA	molecular_function
GO:1901981	phosphatidylinositol phos phate binding	IEA	molecular_function
GO:0001525	angiogenesis	IEA	biological_process
GO:0001786	phosphatidylserine bindin g	IEA	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	IEA	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	IEA	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	TAS	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	TAS	molecular_function
GO:0004629	phospholipase C activity	IEA	molecular_function
GO:0004871	signal transducer activit y	IEA	molecular_function
GO:0005509	calcium ion binding	IEA	molecular_function
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006644	phospholipid metabolic pr ocess	TAS	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0008081	phosphoric diester hydrol ase activity	IEA	molecular_function
GO:0016042	lipid catabolic process	IEA	biological_process
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0032794	GTPase activating protein binding	IPI	molecular_function
GO:0035556	intracellular signal tran sduction	IEA	biological_process
GO:0042127	regulation of cell prolif eration	IEA	biological_process
GO:0043647	inositol phosphate metabo lic process	TAS	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0060716	labyrinthine layer blood vessel development	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070300	phosphatidic acid binding	IEA	molecular_function
GO:1901981	phosphatidylinositol phos phate binding	IEA	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	TAS	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	TAS	molecular_function
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006644	phospholipid metabolic pr ocess	TAS	biological_process
GO:0032794	GTPase activating protein binding	IPI	molecular_function
GO:0043647	inositol phosphate metabo lic process	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

KEGG pathways

hsa01100  Metabolic pathways
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04919  Thyroid hormone signaling pathway
hsa04020  Calcium signaling pathway
hsa04070  Phosphatidylinositol signaling system
hsa00562  Inositol phosphate metabolism

Diseases

Associated diseases	References
Chronic kidney failure	PMID: 19578796
Endometriosis	PMID: 22608312
Endometriosis	INFBASE22608312
Psychiatric disorders	PMID: 19086053

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22608312	Endometrio sis					PLCB3 PLCD1 PLCB1 PLCD3	Show abstract