Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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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 accessionTerm nameEvidence codeGo 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