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FLASH GENE
Symbol PRKDC contributors: mct/npt - updated : 04-01-2013
HGNC name protein kinase, DNA-activated, catalytic polypeptide
HGNC id 9413
Corresponding disease
IMD26 immunodeficiency 16 with or without neurologic abnormalities
Location 8q11.21      Physical location : 48.685.669 - 48.872.743
Synonym name
  • severe combined immunodeficiency (scid mutation)
  • complementing hyperradiosensitivity in mouse,1
  • DNA-dependent protein kinase catalytic subunit
  • hyper-radiosensitivity of murine scid mutation, complementing 1
  • DNA-PK catalytic subunit
    • Synonym symbol(s) DNPK, HYRC1, XRCC7, DNAPK, DNPK1, p350, DNA-PKcs, p460
    EC.number 2.7.11.1, 2.7.1.37
    DNA
    TYPE functioning gene
    STRUCTURE 187.07 kb     86 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    86 - 13509 - 4128 - Danoy (2008)
    85 - 13416 - 4097 - Danoy (2008)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus   highly
    Cardiovascularheart   highly
    Digestiveliver    
     mouthgingiva  highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer dimer
    HOMOLOGY
    Homologene
    FAMILY
  • PRK family
  • PIK, phosphatidylinositol kinase family
  • PI3/PI4-kinase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • DNA dependent serine/threonine protein kinase catalytic subunit, phosphatidylinositol kinase
  • involved in DNA double-strand break repair by end joining (non homologous recombination NHEJ) and V(D)J recombination
  • central regulator of DNA double-strand break (DSB) repair
    • CELLULAR PROCESS nucleotide, repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • dimerizing with Ku antigen (see KUP70 (G22P1) and KUP80 (XRCC5) at DNA double strand break ends, recruiting XRCC4-ligase, facilitated by POLM
    • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • KIP2
  • WRN (inhibition of both the helicase and exonuclease activities of WRN)
  • interaction between PRKCD and PRKDC participates in apoptosis induced by DNA damage
  • interacting with HNRNPU (phosphorylation of HNRNPU by PRKDC suggests novel functions for PRKDC in the response to DNA damage)
  • CENPF is associated with the DNA-dependent protein kinase (PRKDC), a trimeric protein complex critical for genome homeostasis
  • NR4A1, NR4A2 interact with PRKDC and, upon exposure to DNA damage, translocate to DSB foci by a mechanism requiring the activity of PARP1
  • DEAF1 can interact with the PRKDC complex through interactions of its DNA binding domain with the C-terminal region of XRCC6 that contains the BAX binding domain, and is a potential substrate for PRKDC
  • NR5A1 restricts centrosome overduplication by inhibiting aberrant activation of DNA-dependent protein kinase (PRKDC) in the centrosome
  • has fundamental roles in Classical nonhomologous end joining (C-NHEJ) processes beyond end processing that have been masked by functional overlaps with NHEJ1
  • novel regulatory pathway where signaling from PRKDC appears to suppress midbrain-specific LMX1A expression
  • DNA-damage-induced Golgi dispersal requires GOLPH3/MYO18A/F-actin and the DNA damage protein kinase, PRKDC
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IMD26
    Susceptibility to radiosensitivity in a patient with xeroderma pigmentosum
    Variant & Polymorphism other splice variant associated with radiosensitivity in a patient with xeroderma pigmentosum (Abbaszadeh 2010)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS