Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PRKDC (protein kinase, DNA-activated, catalytic subunit)

Identity

Alias (NCBI)DNA-PKC
DNA-PKcs
DNAPK
DNAPKc
DNPK1
HYRC
HYRC1
IMD26
XRCC7
p350
HGNC (Hugo) PRKDC
HGNC Alias symbDNPK1
p350
DNAPK
XRCC7
DNA-PKcs
DNAPKc
DNA-PKC
p460
HGNC Alias nameDNA-dependent protein kinase catalytic subunit
HGNC Previous nameHYRC
 HYRC1
HGNC Previous nameprotein kinase, DNA-activated, catalytic polypeptide
LocusID (NCBI) 5591
Atlas_Id 338
Location 8q11.21  [Link to chromosome band 8q11]
Location_base_pair Starts at 47773113 and ends at 47960136 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACACA (17q12) / PRKDC (8q11.21)DDX5 (17q23.3) / PRKDC (8q11.21)ERC1 (12p13.33) / PRKDC (8q11.21)
KCMF1 (2p11.2) / PRKDC (8q11.21)LOC100507412 (-) / PRKDC (8q11.21)MAP4K5 (14q21.3) / PRKDC (8q11.21)
MCM4 (8q11.21) / PRKDC (8q11.21)MRPS34 (16p13.3) / PRKDC (8q11.21)PRKDC (8q11.21) / ACADVL (17p13.1)
PRKDC (8q11.21) / C8orf22 (8q11.21)PRKDC (8q11.21) / CEP290 (12q21.32)PRKDC (8q11.21) / FAU (11q13.1)
PRKDC (8q11.21) / LAMB1 (7q31.1)PRKDC (8q11.21) / MYO5A (15q21.2)PRKDC (8q11.21) / PRKDC (8q11.21)
PRKDC (8q11.21) / SLC38A2 (12q13.11)PRKDC (8q11.21) / SVIL (10p11.23)PRKDC (8q11.21) / UBE2V2 (8q11.21)
PRKDC (8q11.21) / WDR83 (19p13.2)RPRD1A (18q12.2) / PRKDC (8q11.21)RREB1 (6p24.3) / PRKDC (8q11.21)
SLC39A14 (8p21.3) / PRKDC (8q11.21)SYN3 (22q12.3) / PRKDC (8q11.21)VASH1 (14q24.3) / PRKDC (8q11.21)
KCMF1 2p11.2 / PRKDC 8q11.21PRKDC 8q11.21 / CEP290 12q21.32PRKDC 8q11.21 / MYO5A 15q21.2
PRKDC 8q11.21 / UBE2V2 8q11.21SLC39A14 8p21.3 / PRKDC 8q11.21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)PRKDC   9413
LRG (Locus Reference Genomic)LRG_162
Cards
Entrez_Gene (NCBI)PRKDC    protein kinase, DNA-activated, catalytic subunit
AliasesDNA-PKC; DNA-PKcs; DNAPK; DNAPKc; 
DNPK1; HYRC; HYRC1; IMD26; XRCC7; p350
GeneCards (Weizmann)PRKDC
Ensembl hg19 (Hinxton)ENSG00000253729 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000253729 [Gene_View]  ENSG00000253729 [Sequence]  chr8:47773113-47960136 [Contig_View]  PRKDC [Vega]
ICGC DataPortalENSG00000253729
TCGA cBioPortalPRKDC
AceView (NCBI)PRKDC
Genatlas (Paris)PRKDC
SOURCE (Princeton)PRKDC
Genetics Home Reference (NIH)PRKDC
Genomic and cartography
GoldenPath hg38 (UCSC)PRKDC  -     chr8:47773113-47960136 -  8q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRKDC  -     8q11.21   [Description]    (hg19-Feb_2009)
GoldenPathPRKDC - 8q11.21 [CytoView hg19]  PRKDC - 8q11.21 [CytoView hg38]
ImmunoBaseENSG00000253729
genome Data Viewer NCBIPRKDC [Mapview hg19]  
OMIM600899   615966   
Gene and transcription
Genbank (Entrez)AB208860 AK296833 BC017494 BC024963 BC037968
RefSeq transcript (Entrez)NM_001081640 NM_006904
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRKDC
Alternative Splicing GalleryENSG00000253729
Gene ExpressionPRKDC [ NCBI-GEO ]   PRKDC [ EBI - ARRAY_EXPRESS ]   PRKDC [ SEEK ]   PRKDC [ MEM ]
Gene Expression Viewer (FireBrowse)PRKDC [ Firebrowse - Broad ]
GenevisibleExpression of PRKDC in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5591
GTEX Portal (Tissue expression)PRKDC
Human Protein AtlasENSG00000253729-PRKDC [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78527   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78527  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78527
Splice isoforms : SwissVarP78527
PhosPhoSitePlusP78527
Domaine pattern : Prosite (Expaxy)FAT (PS51189)    FATC (PS51190)    PI3_4_KINASE_1 (PS00915)    PI3_4_KINASE_2 (PS00916)    PI3_4_KINASE_3 (PS50290)   
Domains : Interpro (EBI)ARM-type_fold    DNA-PK_dom    FATC_dom    Kinase-like_dom_sf    NUC194    PI3/4_kinase_cat_dom    PI3/4_kinase_cat_sf    PI3/4_kinase_CS    PIK-rel_kinase_FAT    PIK_FAT   
Domain families : Pfam (Sanger)FAT (PF02259)    FATC (PF02260)    NUC194 (PF08163)    PI3_PI4_kinase (PF00454)   
Domain families : Pfam (NCBI)pfam02259    pfam02260    pfam08163    pfam00454   
Domain families : Smart (EMBL)FATC (SM01343)  NUC194 (SM01344)  PI3Kc (SM00146)  
Conserved Domain (NCBI)PRKDC
Blocks (Seattle)PRKDC
PDB (RSDB)5LUQ    5W1R    5Y3R    6ZFP    6ZH2    6ZH4    6ZH6    6ZH8    6ZHA    6ZHE   
PDB Europe5LUQ    5W1R    5Y3R    6ZFP    6ZH2    6ZH4    6ZH6    6ZH8    6ZHA    6ZHE   
PDB (PDBSum)5LUQ    5W1R    5Y3R    6ZFP    6ZH2    6ZH4    6ZH6    6ZH8    6ZHA    6ZHE   
PDB (IMB)5LUQ    5W1R    5Y3R    6ZFP    6ZH2    6ZH4    6ZH6    6ZH8    6ZHA    6ZHE   
Structural Biology KnowledgeBase5LUQ    5W1R    5Y3R    6ZFP    6ZH2    6ZH4    6ZH6    6ZH8    6ZHA    6ZHE   
SCOP (Structural Classification of Proteins)5LUQ    5W1R    5Y3R    6ZFP    6ZH2    6ZH4    6ZH6    6ZH8    6ZHA    6ZHE   
CATH (Classification of proteins structures)5LUQ    5W1R    5Y3R    6ZFP    6ZH2    6ZH4    6ZH6    6ZH8    6ZHA    6ZHE   
SuperfamilyP78527
Human Protein Atlas [tissue]ENSG00000253729-PRKDC [tissue]
Peptide AtlasP78527
HPRD02941
IPIIPI00296337   IPI00376215   
Protein Interaction databases
DIP (DOE-UCLA)P78527
IntAct (EBI)P78527
BioGRIDPRKDC
STRING (EMBL)PRKDC
ZODIACPRKDC
Ontologies - Pathways
QuickGOP78527
Ontology : AmiGOmaturation of 5.8S rRNA  telomere maintenance  chromosome, telomeric region  somitogenesis  negative regulation of protein phosphorylation  activation of innate immune response  B cell lineage commitment  pro-B cell differentiation  T cell lineage commitment  negative regulation of immunoglobulin production  double-stranded DNA binding  RNA binding  protein kinase activity  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  DNA-dependent protein kinase activity  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription regulator complex  nucleolus  cytosol  DNA-dependent protein kinase-DNA ligase 4 complex  double-strand break repair  double-strand break repair  double-strand break repair via nonhomologous end joining  cellular protein modification process  protein phosphorylation  protein phosphorylation  cellular response to DNA damage stimulus  brain development  heart development  transcription factor binding  intrinsic apoptotic signaling pathway in response to DNA damage  response to gamma radiation  response to activity  membrane  telomere capping  protein ubiquitination  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  enzyme binding  protein domain specific binding  protein destabilization  small-subunit processome  positive regulation of type I interferon production  cellular response to insulin stimulus  protein-containing complex  protein-DNA complex  T cell differentiation in thymus  immunoglobulin V(D)J recombination  T cell receptor V(D)J recombination  small-subunit processome assembly  U3 snoRNA binding  ectopic germ cell programmed cell death  regulation of circadian rhythm  positive regulation of apoptotic process  negative regulation of apoptotic process  innate immune response  positive regulation of lymphocyte differentiation  positive regulation of erythrocyte differentiation  positive regulation of translation  positive regulation of transcription by RNA polymerase II  positive regulation of fibroblast proliferation  rhythmic process  spleen development  thymus development  positive regulation of developmental growth  regulation of smooth muscle cell proliferation  regulation of epithelial cell proliferation  nonhomologous end joining complex  signal transduction involved in mitotic G1 DNA damage checkpoint  double-strand break repair via alternative nonhomologous end joining  protein serine kinase activity  protein threonine kinase activity  regulation of hematopoietic stem cell differentiation  positive regulation of platelet formation  negative regulation of cellular senescence  positive regulation of double-strand break repair via nonhomologous end joining  negative regulation of response to gamma radiation  
Ontology : EGO-EBImaturation of 5.8S rRNA  telomere maintenance  chromosome, telomeric region  somitogenesis  negative regulation of protein phosphorylation  activation of innate immune response  B cell lineage commitment  pro-B cell differentiation  T cell lineage commitment  negative regulation of immunoglobulin production  double-stranded DNA binding  RNA binding  protein kinase activity  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  DNA-dependent protein kinase activity  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription regulator complex  nucleolus  cytosol  DNA-dependent protein kinase-DNA ligase 4 complex  double-strand break repair  double-strand break repair  double-strand break repair via nonhomologous end joining  cellular protein modification process  protein phosphorylation  protein phosphorylation  cellular response to DNA damage stimulus  brain development  heart development  transcription factor binding  intrinsic apoptotic signaling pathway in response to DNA damage  response to gamma radiation  response to activity  membrane  telomere capping  protein ubiquitination  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  enzyme binding  protein domain specific binding  protein destabilization  small-subunit processome  positive regulation of type I interferon production  cellular response to insulin stimulus  protein-containing complex  protein-DNA complex  T cell differentiation in thymus  immunoglobulin V(D)J recombination  T cell receptor V(D)J recombination  small-subunit processome assembly  U3 snoRNA binding  ectopic germ cell programmed cell death  regulation of circadian rhythm  positive regulation of apoptotic process  negative regulation of apoptotic process  innate immune response  positive regulation of lymphocyte differentiation  positive regulation of erythrocyte differentiation  positive regulation of translation  positive regulation of transcription by RNA polymerase II  positive regulation of fibroblast proliferation  rhythmic process  spleen development  thymus development  positive regulation of developmental growth  regulation of smooth muscle cell proliferation  regulation of epithelial cell proliferation  nonhomologous end joining complex  signal transduction involved in mitotic G1 DNA damage checkpoint  double-strand break repair via alternative nonhomologous end joining  protein serine kinase activity  protein threonine kinase activity  regulation of hematopoietic stem cell differentiation  positive regulation of platelet formation  negative regulation of cellular senescence  positive regulation of double-strand break repair via nonhomologous end joining  negative regulation of response to gamma radiation  
Pathways : BIOCARTAFAS signaling pathway ( CD95 ) [Genes]    Cell Cycle: G2/M Checkpoint [Genes]    TNFR1 Signaling Pathway [Genes]    HIV-I Nef: negative effector of Fas and TNF [Genes]   
Pathways : KEGGNon-homologous end-joining    Cell cycle   
NDEx NetworkPRKDC
Atlas of Cancer Signalling NetworkPRKDC
Wikipedia pathwaysPRKDC
Orthology - Evolution
OrthoDB5591
GeneTree (enSembl)ENSG00000253729
Phylogenetic Trees/Animal Genes : TreeFamPRKDC
HOGENOMP78527
Homologs : HomoloGenePRKDC
Homology/Alignments : Family Browser (UCSC)PRKDC
Gene fusions - Rearrangements
Fusion : MitelmanKCMF1/PRKDC [2p11.2/8q11.21]  
Fusion : MitelmanPRKDC/C8orf22 [8q11.21/8q11.21]  
Fusion : MitelmanPRKDC/CEP290 [8q11.21/12q21.32]  
Fusion : MitelmanPRKDC/MYO5A [8q11.21/15q21.2]  
Fusion : MitelmanPRKDC/UBE2V2 [8q11.21/8q11.21]  
Fusion : MitelmanSLC39A14/PRKDC [8p21.3/8q11.21]  
Fusion PortalKCMF1 2p11.2 PRKDC 8q11.21 BRCA
Fusion PortalPRKDC 8q11.21 CEP290 12q21.32 BRCA
Fusion PortalPRKDC 8q11.21 MYO5A 15q21.2 LUAD
Fusion PortalPRKDC 8q11.21 UBE2V2 8q11.21 PRAD
Fusion PortalSLC39A14 8p21.3 PRKDC 8q11.21 BRCA
Fusion : QuiverPRKDC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRKDC [hg38]
dbVarPRKDC
ClinVarPRKDC
MonarchPRKDC
1000_GenomesPRKDC 
Exome Variant ServerPRKDC
GNOMAD BrowserENSG00000253729
Varsome BrowserPRKDC
Genomic Variants (DGV)PRKDC [DGVbeta]
DECIPHERPRKDC [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRKDC 
Mutations
ICGC Data PortalPRKDC 
TCGA Data PortalPRKDC 
Broad Tumor PortalPRKDC
OASIS PortalPRKDC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRKDC  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPRKDC
Mutations and Diseases : HGMDPRKDC
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch PRKDC
DgiDB (Drug Gene Interaction Database)PRKDC
DoCM (Curated mutations)PRKDC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRKDC (select a term)
intoGenPRKDC
Cancer3DPRKDC(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600899    615966   
Orphanet21580   
DisGeNETPRKDC
MedgenPRKDC
Genetic Testing Registry PRKDC
NextProtP78527 [Medical]
GENETestsPRKDC
Target ValidationPRKDC
Huge Navigator PRKDC [HugePedia]
ClinGenPRKDC
Clinical trials, drugs, therapy
MyCancerGenomePRKDC
Protein Interactions : CTD
Pharm GKB GenePA33776
Pharm GKB PathwaysPA166115250   
PharosP78527
Clinical trialPRKDC
Miscellaneous
canSAR (ICR)PRKDC (select the gene name)
HarmonizomePRKDC
DataMed IndexPRKDC
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPRKDC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 25 19:41:05 CET 2021
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