Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 113026
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol PLCD3   Gene   UCSC   Ensembl
Aliases PLC-delta-3
Gene name phospholipase C delta 3
Alternate names 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3, 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-3, PLC delta3, phosphoinositide phospholipase C-delta-3,
Gene location 17q21.31 (44651757: 44619518)     Exons: 12     NC_000020.11
Gene summary(Entrez) This gene encodes a member of the phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq, Jul 2008]
OMIM 608795

Protein Summary
Protein general information Q8N3E9  

Name: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 (EC 3.1.4.11) (Phosphoinositide phospholipase C-delta-3) (Phospholipase C-delta-3) (PLC-delta-3)

Length: 789  Mass: 89,258

Tissue specificity: Present in corneal epithelial cells (at protein level). {ECO

Sequence MLCGRWRRCRRPPEEPPVAAQVAAQVAAPVALPSPPTPSDGGTKRPGLRALKKMGLTEDEDVRAMLRGSRLRKIR
SRTWHKERLYRLQEDGLSVWFQRRIPRAPSQHIFFVQHIEAVREGHQSEGLRRFGGAFAPARCLTIAFKGRRKNL
DLAAPTAEEAQRWVRGLTKLRARLDAMSQRERLDHWIHSYLHRADSNQDSKMSFKEIKSLLRMVNVDMNDMYAYL
LFKECDHSNNDRLEGAEIEEFLRRLLKRPELEEIFHQYSGEDRVLSAPELLEFLEDQGEEGATLARAQQLIQTYE
LNETAKQHELMTLDGFMMYLLSPEGAALDNTHTCVFQDMNQPLAHYFISSSHNTYLTDSQIGGPSSTEAYVRAFA
QGCRCVELDCWEGPGGEPVIYHGHTLTSKILFRDVVQAVRDHAFTLSPYPVILSLENHCGLEQQAAMARHLCTIL
GDMLVTQALDSPNPEELPSPEQLKGRVLVKGKKLPAARSEDGRALSDREEEEEDDEEEEEEVEAAAQRRLAKQIS
PELSALAVYCHATRLRTLHPAPNAPQPCQVSSLSERKAKKLIREAGNSFVRHNARQLTRVYPLGLRMNSANYSPQ
EMWNSGCQLVALNFQTPGYEMDLNAGRFLVNGQCGYVLKPACLRQPDSTFDPEYPGPPRTTLSIQVLTAQQLPKL
NAEKPHSIVDPLVRIEIHGVPADCARQETDYVLNNGFNPRWGQTLQFQLRAPELALVRFVVEDYDATSPNDFVGQ
FTLPLSSLKQGYRHIHLLSKDGASLSPATLFIQIRIQRS
Structural information
Protein Domains
 PH (63-172)
EF-hand (182-217)
EF-hand (218-253)
EF-hand (250-285)
PI-PLC (337-482)
PI-PLC (528-644)
C2. (647-752)
Interpro:  IPR000008 IPR035892 IPR011992 IPR018247 IPR011993 IPR001849 IPR001192 IPR028406 IPR017946 IPR000909 IPR001711
Prosite:   PS50004 PS00018 PS50007 PS50008

Pfam:  		 PF00168 PF00388 PF00387
MINT:  
STRING:   ENSP00000313731;
Other Databases GeneCards:  PLCD3;  Malacards:  PLCD3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001525 angiogenesis
 IEA biological_process
GO:0004435 phosphatidylinositol phos
pholipase C activity
 TAS molecular_function
GO:0004871 signal transducer activit
y
 IEA molecular_function
GO:0005829 cytosol
 IEA cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0016042 lipid catabolic process
 IEA biological_process
GO:0032154 cleavage furrow
 IEA cellular_component
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:0001525 angiogenesis
 IEA biological_process
GO:0001525 angiogenesis
 IEA biological_process
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:0004871 signal transducer activit
y
 IEA molecular_function
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IEA 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:0007165 signal transduction
 IEA biological_process
GO:0007165 signal transduction
 IEA biological_process
GO:0008081 phosphoric diester hydrol
ase activity
 IEA molecular_function
GO:0016020 membrane
 IEA cellular_component
GO:0016020 membrane
 IEA cellular_component
GO:0016020 membrane
 IEA cellular_component
GO:0016042 lipid catabolic process
 IEA biological_process
GO:0016787 hydrolase activity
 IEA molecular_function
GO:0032154 cleavage furrow
 IEA cellular_component
GO:0035556 intracellular signal tran
sduction
 IEA biological_process
GO:0042127 regulation of cell prolif
eration
 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:0004435 phosphatidylinositol phos
pholipase C activity
 TAS molecular_function
GO:0005886 plasma membrane
 TAS cellular_component
GO:0043647 inositol phosphate metabo
lic process
 TAS biological_process

Diseases

Associated diseases References
Blood pressure PMID: 19430483
Blood pressure PMID: 19430483
Endometriosis PMID: 22608312
Endometriosis PMID: 22608312
Endometriosis INFBASE22608312

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22608312 Endometrio
sis

PLCB3
PLCD1
PLCB1
PLCD3
 Show abstract