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    PRKDC protein kinase, DNA-activated, catalytic polypeptide [ Homo sapiens (human) ]

    Gene ID: 5591, updated on 22-Sep-2016
    Official Symbol
    PRKDCprovided by HGNC
    Official Full Name
    protein kinase, DNA-activated, catalytic polypeptideprovided by HGNC
    Primary source
    HGNC:HGNC:9413
    See related
    Ensembl:ENSG00000253729 HPRD:02941; MIM:600899; Vega:OTTHUMG00000164239
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HYRC; p350; DNAPK; DNPK1; HYRC1; IMD26; XRCC7; DNA-PKcs
    Summary
    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]
    Orthologs
    Location:
    8q11
    Exon count:
    86
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (47773108..47960183, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (48685669..48872743, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene scaffolding protein involved in DNA repair Neighboring gene RNA, U6 small nuclear 665, pseudogene Neighboring gene CCAAT/enhancer binding protein delta Neighboring gene uncharacterized LOC105375818 Neighboring gene RNA, U6 small nuclear 519, pseudogene Neighboring gene minichromosome maintenance complex component 4

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify catalytic polypeptide of DNA-activated protein kinase (PRKDC), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify catalytic polypeptide of DNA-activated protein kinase (PRKDC), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify catalytic polypeptide of DNA-activated protein kinase (PRKDC), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Cellular biotinylated protein kinase, DNA-activated, catalytic polypeptide (PRKDC) protein is incorporated into HIV-1 Gag virus-like particles PubMed
    gag Tandem affinity purification and mass spectrometry analysis identify catalytic polypeptide of DNA-activated protein kinase (PRKDC), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Rev rev HIV-1 Rev interacting protein, DNA-dependent protein kinase catalytic subunit (PRKDC), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with PRKDC is increased by RRE PubMed
    Tat tat HIV-1 Tat directly binds PRKDC and forms a complex with CDK9 and Cyclin T1, which regulates HIV-1 transcription PubMed
    tat Amino acids 56-101 of HIV-1 Tat mediate Tat binding to DNA-PK, an effect that augments DNA-PK-mediated phosphorylation of Sp1 during Tat transactivation of the HIV-1 LTR promoter PubMed
    tat HIV-1 Tat is phosphorylated by DNA-PK at serine positions 16 and 62 and DNA-PK-induced Tat phosphorylation contributes significantly to HIV-1 replication PubMed
    tat The DNA repair gene DNA-PKcs and cell cycle-related genes Cdc20, Cdc25C, KIF2C and CTS1 are downregulated in HIV-1 Tat-expressing human rhabdomyosarcoma cells PubMed
    Vpu vpu HIV-1 Vpu is identified to have a physical interaction with protein kinase, DNA-activated, catalytic polypeptide (PRKDC) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    integrase gag-pol HIV-1 IN-mediated proviral DNA integration triggers cell death during HIV-1 infection. The mechanism of killing during viral integration involves activation of DNA-PK, which causes phosphorylation of p53 and histone gammaH2AX PubMed
    gag-pol DNA-PK is proposed to play a role in retroviral DNA integration and protects cells against toxicity induced by HIV-1 Integrase or integration PubMed

    Go to the HIV-1, Human Interaction Database

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    • Cell cycle, organism-specific biosystem (from KEGG)
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    • Cell cycle, conserved biosystem (from KEGG)
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    • Class I PI3K signaling events mediated by Akt, organism-specific biosystem (from Pathway Interaction Database)
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    • Coregulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
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    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
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    • Non-homologous end-joining, organism-specific biosystem (from KEGG)
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    • Non-homologous end-joining, conserved biosystem (from KEGG)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-dependent protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-stranded DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
     
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    B cell lineage commitment IEA
    Inferred from Electronic Annotation
    more info
     
    T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    T cell lineage commitment IEA
    Inferred from Electronic Annotation
    more info
     
    T cell receptor V(D)J recombination IEA
    Inferred from Electronic Annotation
    more info
     
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular protein modification process TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to insulin stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-strand break repair via alternative nonhomologous end joining TAS
    Traceable Author Statement
    more info
    PubMed 
    double-strand break repair via nonhomologous end joining TAS
    Traceable Author Statement
    more info
     
    ectopic germ cell programmed cell death IEA
    Inferred from Electronic Annotation
    more info
     
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    immunoglobulin V(D)J recombination IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic apoptotic signaling pathway in response to DNA damage IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cellular senescence IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of immunoglobulin production IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of response to gamma radiation IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of developmental growth IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of immune system process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of type I interferon production TAS
    Traceable Author Statement
    more info
     
    pro-B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    protein destabilization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of circadian rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of smooth muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    response to gamma radiation IEA
    Inferred from Electronic Annotation
    more info
     
    rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction involved in mitotic G1 DNA damage checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    spleen development IEA
    Inferred from Electronic Annotation
    more info
     
    telomere capping IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    DNA-dependent protein kinase-DNA ligase 4 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nonhomologous end joining complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    transcription factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    DNA-dependent protein kinase catalytic subunit
    Names
    DNA-PK catalytic subunit
    hyper-radiosensitivity of murine scid mutation, complementing 1
    p460
    NP_001075109.1
    NP_008835.5

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023435.1 RefSeqGene

      Range
      5001..192076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_162

    mRNA and Protein(s)

    1. NM_001081640.1NP_001075109.1  DNA-dependent protein kinase catalytic subunit isoform 2

      See identical proteins and their annotated locations for NP_001075109.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      U34994, U47077
      Consensus CDS
      CCDS75734.1
      UniProtKB/Swiss-Prot
      P78527
      Related
      ENSP00000345182, OTTHUMP00000276004, ENST00000338368, OTTHUMT00000378400
      Conserved Domains (4) summary
      cd05172
      Location:37193984
      PIKKc_DNA-PK; Catalytic domain of DNA-dependent protein kinase
      pfam02259
      Location:30233470
      FAT; FAT domain
      pfam02260
      Location:40664097
      FATC; FATC domain
      pfam08163
      Location:18152202
      NUC194; NUC194 domain
    2. NM_006904.6NP_008835.5  DNA-dependent protein kinase catalytic subunit isoform 1

      See identical proteins and their annotated locations for NP_008835.5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      U47077
      Consensus CDS
      CCDS75735.1
      UniProtKB/Swiss-Prot
      P78527
      Related
      ENSP00000313420, OTTHUMP00000276003, ENST00000314191, OTTHUMT00000377896
      Conserved Domains (4) summary
      cd05172
      Location:37194015
      PIKKc_DNA-PK; Catalytic domain of DNA-dependent protein kinase
      pfam02259
      Location:30233470
      FAT; FAT domain
      pfam02260
      Location:40974128
      FATC; FATC domain
      pfam08163
      Location:18152202
      NUC194; NUC194 domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      47773108..47960183 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      48738053..48925105 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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