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gptkbp:instanceOf
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gptkb:gene
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gptkbp:alternativeName
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gptkb:PI3K-delta
gptkb:phosphoinositide-3-kinase_catalytic_subunit_delta
p110 delta
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gptkbp:associatedWith
|
immunodeficiency
lymphoproliferative disorder
Activated PI3K-delta syndrome (APDS)
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gptkbp:biologicalProcess
|
kinase activity
ATP binding
phosphatidylinositol 3-kinase activity
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gptkbp:discoveredBy
|
Y. Okkenhaug et al.
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gptkbp:encodes
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gptkb:phosphatidylinositol-4,5-bisphosphate_3-kinase_catalytic_subunit_delta_isoform
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gptkbp:Entrez_Gene_ID
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gptkb:PIK3CD
5293
ENSG00000171608
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gptkbp:expressedIn
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gptkb:leukocytes
gptkb:thymus
lymph nodes
spleen
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gptkbp:function
|
catalytic subunit of class IA PI3K
involved in immune cell signaling
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gptkbp:geneType
|
protein-coding
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gptkbp:HGNC_ID
|
8977
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https://www.w3.org/2000/01/rdf-schema#label
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PIK3CD (human)
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gptkbp:interactsWith
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gptkb:PIK3R1
gptkb:PIK3R2
gptkb:PIK3R3
gptkb:CD28
gptkb:LCK
gptkb:CD19
|
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gptkbp:involves
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gptkb:T_cell_receptor_signaling_pathway
gptkb:PI3K-Akt_signaling_pathway
gptkb:B_cell_receptor_signaling_pathway
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gptkbp:lengthOfProtein
|
1044 amino acids
|
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gptkbp:locatedOnChromosome
|
gptkb:1p36.22
chromosome 1
|
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gptkbp:mutationAssociatedWith
|
gain-of-function mutations cause immunodeficiency
loss-of-function mutations impair immune response
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gptkbp:OMIM
|
602839
|
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gptkbp:orthologInMouse
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gptkb:Pik3cd
|
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gptkbp:product
|
gptkb:PI3K_delta
|
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gptkbp:proteinFamily
|
gptkb:PI3K/PI4K_domain
kinase domain
C2 domain
P85 binding domain
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gptkbp:RefSeq
|
NM_005026
|
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gptkbp:regulates
|
activated by G-protein coupled receptors
activated by receptor tyrosine kinases
|
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gptkbp:species
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gptkb:Homo_sapiens
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gptkbp:targetOfDrug
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gptkb:duvelisib
gptkb:idelalisib
gptkb:umbralisib
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gptkbp:UniProtID
|
O00329
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gptkbp:bfsParent
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gptkb:Pik3cd
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gptkbp:bfsLayer
|
6
|