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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
    Physical map
    LOC389652 8 similar to asparagine synthetase; glutamine-dependent asparagine synthetase; TS11 cell cycle control protein LOC392215 8 similar to hypothetical protein FLJ90430 MAPK6PS4 8q11.23 similar to hypothetical protein FLJ90430 LOC392216 8 similar to KIAA0565 protein LOC253986 8q11.21 similar to ribosomal protein L10a LOC389654 8 LOC389654 LOC392217 8 similar to Ig lambda light chain leader and V-region KIAA0146 8q11.21 KIAA0146 protein CEBPD 8q11 CCAAT/enhancer binding protein (C/EBP), delta PRKDC 8q11 protein kinase, DNA-activated, catalytic polypeptide MCM4 8q11.2 MCM4 minichromosome maintenance deficient 4 (S. cerevisiae) UBE2V2 8q11.1-q11.21 ubiquitin-conjugating enzyme E2 variant 2 LOC203010 8q11.21 similar to IDI1 protein LOC389655 8 similar to ribosomal protein L29 FLJ11767 8q11.21 hypothetical protein FLJ11767 LOC392218 8 similar to Band 4.1-like protein 5 SNAI2 8q11.1-q11.2 snail homolog 2 (Drosophila) LOC137133 8q11.22 similar to phosphoserine aminotransferase isoform 1 LOC389656 8 LOC389656 SNTG1 8q11.2-q12 syntrophin, gamma 1 HCP22 8q11.22 cytochrome c, somatic pseudogene FLJ25471 8q11.22 hypothetical protein FLJ25471 BTF3P1 8q11.22 basic transcription factor 3, pseudogene 1 LOC115294 8q11.22 similar to hypothetical protein FLJ10883 LOC389657 8 LOC389657 ST18 8q11.21 suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) LOC389658 8 similar to RPLK9433 RB1CC1 8p22-q11.23 RB1-inducible coiled-coil 1 GPR7 10q11.2-q21.1 G protein-coupled receptor 7 LOC392219 8 similar to ring finger protein 2
    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