|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
DNAPK
DNAPKcs
XRCC7
|
|
gptkbp:associatedWith
|
gptkb:cancer
gptkb:severe_combined_immunodeficiency_(SCID)
|
|
gptkbp:clinicalTrialPhase
|
genetic testing available
|
|
gptkbp:discoveredBy
|
Shiloh et al.
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodes
|
DNA-dependent protein kinase catalytic subunit
|
|
gptkbp:Entrez_Gene_ID
|
5591
ENSG00000149483
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
protein kinase, DNA-activated, catalytic polypeptide
|
|
gptkbp:function
|
serine/threonine protein kinase activity
involved in DNA double-strand break repair
involved in V(D)J recombination
|
|
gptkbp:gene
|
gptkb:PRKDC
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO_term
|
GO:0004672 (protein kinase activity)
GO:0006974 (cellular response to DNA damage stimulus)
GO:0006281 (DNA repair)
|
|
gptkbp:HGNC_ID
|
HGNC:9408
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PRKDC
|
|
gptkbp:interactsWith
|
gptkb:Ku70
gptkb:Ku80
LIG4
XRCC4
|
|
gptkbp:length
|
4128 amino acids
|
|
gptkbp:locatedOnChromosome
|
8q11
|
|
gptkbp:molecularWeight
|
~469 kDa
|
|
gptkbp:mutationAssociatedWith
|
immunodeficiency
genomic instability
radiosensitivity
|
|
gptkbp:OMIM
|
600899
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
mouse Prkdc
|
|
gptkbp:pathway
|
non-homologous end joining (NHEJ)
|
|
gptkbp:PDB
|
5Y3R
|
|
gptkbp:phosphorylates
|
gptkb:H2AX
gptkb:Ku70
gptkb:Ku80
gptkb:p53
|
|
gptkbp:proteinFamily
|
PIKK family
|
|
gptkbp:RefSeq
|
NM_006904
|
|
gptkbp:regulates
|
activated by DNA ends
regulated by autophosphorylation
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:therapeuticArea
|
potential target in cancer therapy
|
|
gptkbp:UniProtID
|
gptkb:P78527
|
|
gptkbp:bfsParent
|
gptkb:DNA-PK
|
|
gptkbp:bfsLayer
|
6
|