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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRKDC Gene

protein-coding   GIFtS: 68
GCID: GC08M048685

Protein Kinase, DNA-Activated, Catalytic Polypeptide


(Previous symbols: HYRC, HYRC1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Protein Kinase, DNA-Activated, Catalytic Polypeptide1 2     EC 2.7.11.13 8
HYRC11 2 3 5     DNAPK2
HYRC1 2 3     XRCC72
DNPK12 3 5     DNA-Dependent Protein Kinase Catalytic Subunit2
DNA-PKcs2 3     Hyper-Radiosensitivity Of Murine Scid Mutation, Complementing 12
DNA-PK Catalytic Subunit2 3     p3502
p4602 3     

External Ids:    HGNC: 94131   Entrez Gene: 55912   Ensembl: ENSG000002537297   OMIM: 6008995   UniProtKB: P785273   

Export aliases for PRKDC gene to outside databases

Previous GC identifers: GC08P047830 GC08M048689 GC08M048408 GC08M048735 GC08M048848


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRKDC Gene:
This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the
Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a
member of the PI3/PI4-kinase family.(provided by RefSeq, Jul 2010)

GeneCards Summary for PRKDC Gene: 
PRKDC (protein kinase, DNA-activated, catalytic polypeptide) is a protein-coding gene. Diseases associated with PRKDC include severe combined immunodeficiency due to dna-pkcs deficiency, and artemis deficiency, and among its related super-pathways are Cell cycle and Non-homologous end joining. GO annotations related to this gene include protein serine/threonine kinase activity and enzyme binding. An important paralog of this gene is ATR.

UniProtKB/Swiss-Prot: PRKDC_HUMAN, P78527
Function: Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA
nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be
bound to DNA to express its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J
recombination by activation of the hairpin endonuclease artemis (DCLRE1C). The assembly of the DNA-PK complex at
DNA ends is also required for the NHEJ ligation step. Required to protect and align broken ends of DNA. May also
act as a scaffold protein to aid the localization of DNA repair proteins to the site of damage. Found at the ends
of chromosomes, suggesting a further role in the maintenance of telomeric stability and the prevention of
chromosomal end fusion. Also involved in modulation of transcription. Recognizes the substrate consensus sequence
[ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX, thereby regulating DNA damage response mechanism.
Phosphorylates DCLRE1C, c-Abl/ABL1, histone H1, HSPCA, c-jun/JUN, p53/TP53, PARP1, POU2F1, DHX9, SRF, XRCC1,
XRCC1, XRCC4, XRCC5, XRCC6, WRN, MYC and RFA2. Can phosphorylate C1D not only in the presence of linear DNA but
also in the presence of supercoiled DNA. Ability to phosphorylate p53/TP53 in the presence of supercoiled DNA is
dependent on C1D

summary for PRKDC Gene:
DNA-dependent protein kinase (DNA-PK) is a nuclear protein serine/threonine kinase that is a molecular
sensor of DNA damage. DNA-PK is involved in the ligation step of the non-homologous end joining (NHEJ)
pathway of DNA double strand break (DSB) repair, V(D)J recombination and telomere stabilization. DNA-PK is
activated by phosphorylation by ATM/ATR following DNA damage and is inhibited by wortmannin. DNA-PK must be
bound to DNA in order to exhibit its catalytic properties and has multiple targets including c-Abl, histone
H1, c-jun, p53, c-MYC and more.

Gene Wiki entry for PRKDC (DNA-PKcs) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_008183.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRKDC gene promoter:
         Nkx3-1   STAT1   Nkx3-1 v4   p53   Nkx3-1 v1   STAT1alpha   Nkx3-1 v2   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRKDC promoter sequence
   Search SABiosciences Chromatin IP Primers for PRKDC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRKDC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q11   Ensembl cytogenetic band:  8q11.21   HGNC cytogenetic band: 8q11

PRKDC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRKDC gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M048685:  view genomic region     (about GC identifiers)

Start:
48,685,669 bp from pter      End:
48,872,743 bp from pter
Size:
187,075 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PRKDC_HUMAN, P78527 (See protein sequence)
Recommended Name: DNA-dependent protein kinase catalytic subunit  
Size: 4128 amino acids; 469089 Da
Subunit: DNA-PK is a heterotrimer of PRKDC and the Ku p70-p86 (XRCC6-XRCC5) dimer. Formation of this complex may
be promoted by interaction with ILF3. Associates with the DNA-bound Ku heterodimer, but it can also bind to and
be activated by free DNA. Interacts with DNA-PKcs-interacting protein (KIP) with the region upstream the kinase
domain. PRKDC alone also interacts with and phosphorylates DCLRE1C, thereby activating the latent endonuclease
activity of this protein. Interacts with C1D. Interacts with TTI1 and TELO2
Subcellular location: Nucleus. Nucleus, nucleolus
Secondary accessions: P78528 Q13327 Q13337 Q14175 Q59H99 Q7Z611 Q96SE6 Q9UME3
Alternative splicing: 2 isoforms:  P78527-1   P78527-2   

Explore the universe of human proteins at neXtProt for PRKDC: NX_P78527

Explore proteomics data for PRKDC at MOPED 

Post-translational modifications:

  • UniProtKB: Autophosphorylated on Thr-2609, Thr-2638 and Thr-2647. Thr-2609 is a DNA damage-inducible phosphorylation site
    (inducible with ionizing radiation, IR). Autophosphorylation induces a conformational change that leads to
    remodeling of the DNA-PK complex, requisite for efficient end processing and DNA repair
  • UniProtKB: S-nitrosylated by GAPDH (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P78527

  • 4/31 DME Specific Peptides for PRKDC (P78527) (see all 31)
     KFYGELA  LRLRRRF  EGNELTK  YNYSKCT 

    PRKDC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRKDC Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001075109.1  NP_008835.5  

    ENSEMBL proteins: 
     ENSP00000442177   ENSP00000441157   ENSP00000313420   ENSP00000345182  
    Reactome Protein details: P78527
    Human Recombinant Protein Products for PRKDC: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for PRKDC
    GenScript Custom Purified and Recombinant Proteins Services for PRKDC
    Novus Biologicals PRKDC Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PRKDC 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IDA19303849
    GO:0005730nucleolus IEA--
    GO:0005829cytosol TAS--

    PRKDC for ontologies           About GeneDecksing



    PRKDC Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of PRKDC
    R&D Systems Antibodies for PRKDC (DNA-PKcs)
    Cell Signaling Technology (CST) Antibodies for PRKDC  (DNAPK)
    OriGene Antibodies for PRKDC
    OriGene Custom Antibody Services for PRKDC
    GenScript Custom Superior Antibodies Services for PRKDC
    Novus Biologicals PRKDC Antibodies
    Abcam antibodies for PRKDC
    Cloud-Clone Corp. Antibodies for PRKDC 
    ThermoFisher Antibody for PRKDC
    LSBio Antibodies in human, mouse, rat for PRKDC 

    Assay Products for PRKDC: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PRKDC
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PRKDC
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PRKDC 
    Cloud-Clone Corp. CLIAs for PRKDC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 InterPro protein domains (see all 9):
     IPR011989 ARM-like
     IPR011009 Kinase-like_dom
     IPR014009 PIK_FAT
     IPR000403 PI3/4_kinase_cat_dom
     IPR012582 NUC194

    Graphical View of Domain Structure for InterPro Entry P78527

    ProtoNet protein and cluster: P78527

    4 Blocks protein domains:
    IPB000357 HEAT repeat
    IPB000403 Phosphatidylinositol 3- and 4-kinase
    IPB003151 PIK-related kinase
    IPB012582 NUC194


    UniProtKB/Swiss-Prot: PRKDC_HUMAN, P78527
    Similarity: Belongs to the PI3/PI4-kinase family
    Similarity: Contains 1 FAT domain
    Similarity: Contains 1 FATC domain
    Similarity: Contains 2 HEAT repeats
    Similarity: Contains 1 PI3K/PI4K domain
    Similarity: Contains 3 TPR repeats


    PRKDC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PRKDC_HUMAN, P78527
    Function: Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA
    nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be
    bound to DNA to express its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J
    recombination by activation of the hairpin endonuclease artemis (DCLRE1C). The assembly of the DNA-PK complex at
    DNA ends is also required for the NHEJ ligation step. Required to protect and align broken ends of DNA. May also
    act as a scaffold protein to aid the localization of DNA repair proteins to the site of damage. Found at the ends
    of chromosomes, suggesting a further role in the maintenance of telomeric stability and the prevention of
    chromosomal end fusion. Also involved in modulation of transcription. Recognizes the substrate consensus sequence
    [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX, thereby regulating DNA damage response mechanism.
    Phosphorylates DCLRE1C, c-Abl/ABL1, histone H1, HSPCA, c-jun/JUN, p53/TP53, PARP1, POU2F1, DHX9, SRF, XRCC1,
    XRCC1, XRCC4, XRCC5, XRCC6, WRN, MYC and RFA2. Can phosphorylate C1D not only in the presence of linear DNA but
    also in the presence of supercoiled DNA. Ability to phosphorylate p53/TP53 in the presence of supercoiled DNA is
    dependent on C1D
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Inhibited by wortmannin. Activity of the enzyme seems to be attenuated by autophosphorylation

         Genatlas biochemistry entry for PRKDC:
    DNA dependent serine/threonine protein kinase catalytic subunit,dimerizing with Ku antigen (see KUP70
    (CLU),KUP80),involved in DNA double-strand break repair by end joining (non homologous recombination) and V(D)J
    recombination,same as HYRC1

         Enzyme Number (IUBMB): EC 2.7.11.11 2

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0004672protein kinase activity TAS7671312
    GO:0004674protein serine/threonine kinase activity IDA19303849
    GO:0004677DNA-dependent protein kinase activity IDA15194694
    GO:0005488binding ----
         
    PRKDC for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for PRKDC:
     Decreased G3BP1 protein expres  Decreased substrate adherent c  Increased cell death in HCC-19  Increases Tamoxifen sensitivit 

         15/23 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Prkdc) (see all 23):
     adipose tissue  behavior/neurological  cellular  craniofacial  digestive/alimentary 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  liver/biliary system  mortality/aging  muscle 

    PRKDC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PRKDC: Prkdctm1Fwa Prkdctm1Gcl Prkdctm1Get

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PRKDC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PRKDC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRKDC 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRKDC 

    miRNA
    Products:
        
    miRTarBase miRNAs that target PRKDC:
    hsa-mir-101 (MIRT005558)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRKDC
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate PRKDC:
    hsa-miR-1323 hsa-miR-548o
    SwitchGear 3'UTR luciferase reporter plasmidPRKDC 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PRKDC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRKDC

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PRKDC


    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for PRKDC (see all 5)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PRKDC (NM_006904)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRKDC
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PRKDC

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PRKDC
    Search LifeMap BioReagents cell lines for PRKDC
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRKDC


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PRKDC About   (see all 21)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    2Non-homologous end-joining
    Non-homologous end-joining0.46
    DNA damage NHEJ mechanisms of DSBs repair0.37
    3Processing of DNA ends prior to end rejoining
    Nonhomologous End-joining (NHEJ)0.67
    Processing of DNA ends prior to end rejoining0.67
    4Immune System
    Immune System0.56
    Innate Immune System0.50
    5Granzyme Pathway
    Granzyme Pathway0.42
    Granzyme-B Pathway0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for PRKDC
        DNA damage DNA-damage-induced responses
    DNA damage NHEJ mechanisms of DSBs repair

    5/8 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PRKDC (see all 8)
        Caspase Cascade
    Molecular Mechanisms of Cancer
    Granzyme Pathway
    Fas Signaling
    Granzyme-B Pathway

    2 Cell Signaling Technology (CST) Pathways for PRKDC
        Cell Cycle / Checkpoint Control
    DNA Damage

    2 GeneGo (Thomson Reuters) Pathways for PRKDC
        DNA damage NHEJ mechanisms of DSBs repair
    DNA damage DNA-damage-induced responses

    5/6 BioSystems Pathways for PRKDC (see all 6)
        Cell cycle
    FAS pathway and Stress induction of HSP regulation
    Prostate Cancer
    Class I PI3K signaling events mediated by Akt
    Coregulation of Androgen receptor activity

    5/7        Reactome Pathways for PRKDC (see all 7)
        Cytosolic sensors of pathogen-associated DNA
    DNA Repair
    Nonhomologous End-joining (NHEJ)
    Double-Strand Break Repair
    Processing of DNA ends prior to end rejoining


    2         Kegg Pathways  (Kegg details for PRKDC):
        Non-homologous end-joining
    Cell cycle


    PRKDC for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRKDC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/1038 Interacting proteins for PRKDC (P785271, 2, 3 ENSP000003134204) via UniProtKB, MINT, STRING, and/or I2D (see all 1038)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3EP684313, ENSP000003535814I2D: score=1 STRING: ENSP00000353581
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance IEA--
    GO:0001756somitogenesis IEA--
    GO:0002326B cell lineage commitment IEA--
    GO:0002328pro-B cell differentiation IEA--
    GO:0002360T cell lineage commitment IEA--

    PRKDC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PRKDC for compounds           About GeneDecksing

    EMD Millipore small molecules for PRKDC:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for PRKDC

    Compounds for PRKDC available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DMNBDNA-PK inhibitor[20357-25-9]
    NU 7026Selective DNA-PK inhibitor[154447-35-5]
    NU 7441Potent and selective DNA-PK inhibitor[503468-95-9]

    2 HMDB Compounds for PRKDC    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    8 Novoseek inferred chemical compound relationships for PRKDC gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    p-350 85 16 7855601 (4), 7724535 (3), 8538653 (3)
    phosphatidylinositol 56.6 5 10500142 (1), 9808536 (1), 12695618 (1), 19071136 (1) (see all 5)
    threonine 53.1 3 19887394 (1), 9539023 (1), 17638905 (1)
    pkcs 49.6 3 19029686 (1), 17110150 (1), 16168844 (1)
    serine 38.1 3 19887394 (1), 9539023 (1), 17638905 (1)
    camptothecin 18.6 1 15218034 (1)
    adriamycin 5.08 1 9406235 (1)
    nitric oxide 0 2 10854324 (1)

    Search CenterWatch for drugs/clinical trials and news about PRKDC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PRKDC gene (2 alternative transcripts): 
    NM_001081640.1  NM_006904.6  

    Unigene Cluster for PRKDC:

    Protein kinase, DNA-activated, catalytic polypeptide
    Hs.491682  [show with all ESTs]
    Unigene Representative Sequence: NM_006904
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000523565(uc003xqi.3 uc003xqj.3) ENST00000518216 ENST00000536429
    ENST00000536483 ENST00000521331 ENST00000536710 ENST00000432581 ENST00000546304
    ENST00000541488 ENST00000535375 ENST00000540819 ENST00000314191 ENST00000338368

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRKDC
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate PRKDC:
    hsa-miR-1323 hsa-miR-548o
    SwitchGear 3'UTR luciferase reporter plasmidPRKDC 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PRKDC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRKDC
    Clone
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    OriGene clones in human, mouse for PRKDC (see all 5)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PRKDC (NM_006904)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRKDC
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PRKDC
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PRKDC
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PRKDC
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRKDC
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRKDC

    Additional mRNA sequence: 

    AB208860.1 AK022387.1 AK296833.1 BC017494.1 BC024963.1 BC037968.1 U34994.3 U35835.1 
    U47077.5 

    24/25 DOTS entries (see all 25):

    DT.447515  DT.91810315  DT.100798110  DT.100798105  DT.86840995  DT.91724527  DT.118545  DT.95155071 
    DT.99952979  DT.120635215  DT.207420  DT.40132575  DT.40194022  DT.91926822  DT.91986268  DT.92024383 
    DT.95073263  DT.95155074  DT.95155076  DT.95261648  DT.97822103  DT.100662770  DT.120635274  DT.121449421 

    24/489 AceView cDNA sequences (see all 489):

    AU140342 BP345147 BM464699 N23156 BQ683996 BP352465 AI140691 AA846794 
    CA444783 AV656425 CA841859 BE882131 AI435413 BQ891928 BX105825 AA233917 
    AI810280 BX504873 BM747522 AU120868 AW673866 BG391741 BQ072273 AV729379 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRKDC expression in normal human tissues (normalized intensities)      PRKDC embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCAGTCCCT
    PRKDC Expression
    About this image


    PRKDC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus

    See PRKDC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRKDC

    SOURCE GeneReport for Unigene cluster: Hs.491682
        SABiosciences Expression via Pathway-Focused PCR Arrays including PRKDC (see all 6): 
              DNA Damage Signaling Pathway in human mouse rat
              Telomeres & Telomerase in human mouse rat
              TNF Ligands & Receptors in human mouse rat
              DNA Repair in human mouse rat
              Apoptosis 384HT in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PRKDC
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRKDC
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRKDC

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PRKDC gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prkdc1 , 5 protein kinase, DNA activated, catalytic polypeptide1, 5 81.23(n)1
    79.37(a)1
      16 (10.09 cM)5
    190901  NM_011159.21  NP_035289.21 
     156378665 
    chicken
    (Gallus gallus)
    Aves PRKDC1 protein kinase, DNA-activated, catalytic polypeptide 70.36(n)
    69.03(a)
      395376  NM_204658.1  NP_989989.1 
    lizard
    (Anolis carolinensis)
    Reptilia PRKDC6
    Uncharacterized protein
    67(a)
    1 ↔ 1
    GL343207.1(1549826-1669811)
    African clawed frog
    (Xenopus laevis)
    Amphibia prkdc-A2 protein kinase, DNA-activated, catalytic polypeptide 75.3(n)    AB016434.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa96e122 Transcribed sequence with weak similarity to protein more 75.2(n)    57075843 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0039671 AGAP003967-PA 40.76(n)
    27.91(a)
      1278787  XM_318419.4  XP_318419.4 
    worm
    (Caenorhabditis elegans)
    Secernentea atl-16
    Serine/threonine-protein kinase ATR
    12(a)
    1 → many
    V(9634861-9645502)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MEC16
    Genome integrity checkpoint protein and PI kinase ...
    13(a)
    1 → many
    II(505668-512774)


    ENSEMBL Gene Tree for PRKDC (if available)
    TreeFam Gene Tree for PRKDC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRKDC gene
    ATR2  

    PRKDC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3750 SNPs in PRKDC are shown (see all 3750)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0416104
    A lung squamous cell carcinoma sample4--see VAR_0416102 R M mis40--------
    VAR_0416024
    A lung adenocarcinoma sample4--see VAR_0416022 K N mis40--------
    VAR_0416164
    A lung neuroendocrine carcinoma sample4--see VAR_0416162 G A mis40--------
    VAR_0416064
    A colorectal adenocarcinoma sample4--see VAR_0416062 R H mis40--------
    VAR_0416044
    A metastatic melanoma sample4--see VAR_0416042 G S mis40--------
    VAR_0416154
    A metastatic melanoma sample4--see VAR_0416152 S N mis40--------
    VAR_0416194
    ----see VAR_0416192 L F mis40--------
    VAR_0416214
    ----see VAR_0416212 G S mis40--------
    VAR_0416084
    ----see VAR_0416082 A T mis40--------
    VAR_0191984
    ----see VAR_0191982 M V mis40--------

    HapMap Linkage Disequilibrium report for PRKDC (48685669 - 48872743 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for PRKDC:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2663658CNV Deletion23128226
    nsv6180CNV Insertion18451855
    nsv6179CNV Loss18451855
    nsv831309CNV Loss17160897
    nsv8337CNV Gain18304495
    dgv2234e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): PRKDC
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing PRKDC
    DNA2.0 Custom Variant and Variant Library Synthesis for PRKDC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600899    OMIM disorders: --

    20/49 diseases for PRKDC (see all 49):    About MalaCards
    severe combined immunodeficiency due to dna-pkcs deficiency    artemis deficiency    xeroderma pigmentosum, group a    ataxia telangiectasia
    severe combined immunodeficiency    nijmegen breakage syndrome    progeria    plasmodium falciparum malaria
    xeroderma pigmentosum    t cell deficiency    werner syndrome    sporadic breast cancer
    ataxia    malaria    vaccinia    burkitt's lymphoma
    duodenitis    lung cancer    glioblastoma    malignant glioma

    4 diseases from the University of Copenhagen DISEASES database for PRKDC:
    Ataxia telangiectasia     Severe combined immunodeficiency     Cancer     Werner syndrome

    PRKDC for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for PRKDC gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ataxia telangiectasia 82.3 24 19029686 (1), 19887394 (1), 15758953 (1), 18451257 (1) (see all 17)
    severe combined immunodeficiency 66.7 5 9205842 (1), 9539023 (1), 12695618 (1), 9380717 (1)
    glioma 28.1 2 19435898 (1), 18202016 (1)
    tumors 20.1 4 12670903 (1), 10629611 (1), 12377759 (1), 11096417 (1)
    cancer 16.7 3 16077955 (1), 17143500 (1), 19281848 (1)
    glioblastoma 15.2 1 10629611 (1)
    melanoma 0 2 16000590 (1), 15179184 (1)

    Genetic Association Database (GAD): PRKDC
    Human Genome Epidemiology (HuGE) Navigator: PRKDC (25 documents)

    Export disorders for PRKDC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PRKDC gene, integrated from 9 sources (see all 502):
    (articles sorted by number of sources associating them with PRKDC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene for the catalytic subunit of the human DNA-activated protein kinase maps to the site of the XRCC7 gene on chromosome 8. (PubMed id 7638222)1, 2, 3, 9 Sipley J.D....Anderson C.W. (1995)
    2. Frameshift mutation in PRKDC, the gene for DNA-PKcs, in the DNA repair-defective, human, glioma-derived cell line M059J. (PubMed id 11418067)1, 2, 9 Anderson C.W....Allalunis-Turner M.J. (2001)
    3. MCM4 and PRKDC, human genes encoding proteins MCM4 and DNA-PKcs, are close neighbours located on chromosome 8q12-->q13. (PubMed id 9284934)1, 2, 9 Ladenburger E.M.... Knippers R. (1997)
    4. Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage. (PubMed id 15758953)1, 2, 9 Falck J.... Jackson S.P. (2005)
    5. Autophosphorylation of the DNA-dependent protein kinase catalytic subunit is required for rejoining of DNA double-strand breaks. (PubMed id 12231622)1, 2, 9 Chan D.W.... Chen D.J. (2002)
    6. Tagging single nucleotide polymorphisms in phosphoinositide-3-kinase-related protein kinase genes involved in DNA damage 'checkpoints' and lung cancer susceptibility. (PubMed id 18451257)1, 4, 9 Hu Z....Shen H. (2008)
    7. Polymorphic variants of DNA repair gene XRCC3 and XRC C7 and risk of prostate cancer: a study from North Indian population. (PubMed id 20590474)1, 4 Mandal R.K....Mittal R.D. (2010)
    8. Polymorphisms in DNA repair genes and risk of non-Hod gkin lymphoma in a pooled analysis of three studies. (PubMed id 20813000)1, 4 Shen M....Zheng T. (2010)
    9. Tti1 and Tel2 are critical factors in mammalian targe t of rapamycin complex assembly. (PubMed id 20427287)1, 2 Kaizuka T....Mizushima N. (2010)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5591 HGNC: 9413 AceView: PRKDC Ensembl:ENSG00000253729 euGenes: HUgn5591
    ECgene: PRKDC Kegg: 5591 H-InvDB: PRKDC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRKDC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PRKDC Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/prkdc/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PRKDC gene:
    Search GeneIP for patents involving PRKDC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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