|
gptkbp:instanceOf
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gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:PLC-epsilon-1
gptkb:phospholipase_C,_epsilon_1
|
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gptkbp:associatedWith
|
gptkb:nephrotic_syndrome_type_3
gastric cancer
esophageal squamous cell carcinoma
|
|
gptkbp:biologicalProcess
|
signal transduction
phospholipase activity
calcium ion binding
phosphoinositide phospholipase C activity
|
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gptkbp:cellularComponent
|
gptkb:cell_membrane
gptkb:cytoplasm
|
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gptkbp:domain
|
gptkb:PH_domain
gptkb:EF-hand_domain
C2 domain
CDC25 homology domain
Ras-associating domain
X and Y catalytic domains
|
|
gptkbp:encodes
|
gptkb:phospholipase_C_epsilon-1_protein
|
|
gptkbp:Entrez_Gene_ID
|
51196
ENSG00000138193
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:kidney
gptkb:placenta
brain
heart
liver
pancreas
|
|
gptkbp:fullName
|
gptkb:phospholipase_C_epsilon_1
|
|
gptkbp:function
|
hydrolyzes phosphatidylinositol 4,5-bisphosphate
involved in intracellular signal transduction
|
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gptkbp:HGNC_ID
|
HGNC:9066
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PLCE1
|
|
gptkbp:length
|
2302
|
|
gptkbp:locatedOnChromosome
|
10
10q23.33
|
|
gptkbp:molecularWeight
|
257 kDa
|
|
gptkbp:mutationAssociatedWith
|
causes nephrotic syndrome type 3 (NPHS3)
|
|
gptkbp:OMIM
|
608414
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Plce1
|
|
gptkbp:pathway
|
calcium signaling pathway
phosphoinositide signaling pathway
|
|
gptkbp:proteinFamily
|
gptkb:phospholipase_C_family
|
|
gptkbp:regulates
|
activated by Ras and Rap GTPases
regulated by G-protein coupled receptors
|
|
gptkbp:subcellularLocation
|
gptkb:plasma_membrane
cytosol
|
|
gptkbp:UniProtID
|
Q9P212
|
|
gptkbp:bfsParent
|
gptkb:RAP2A
gptkb:RASH_HUMAN
gptkb:phospholipase_C
|
|
gptkbp:bfsLayer
|
6
|