Aliases for PRKDC Gene
External Ids for PRKDC Gene
Previous HGNC Symbols for PRKDC Gene
Previous GeneCards Identifiers 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 immunodeficiency 26, with or without neurologic abnormalities. Among its related pathways are Immune System and Akt Signaling. GO annotations related to this gene include poly(A) RNA binding and protein kinase activity. An important paralog of this gene is ATR.
UniProtKB/Swiss-Prot for PRKDC Gene
Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA non-homologous 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. Contributes to the determination of the circadian period length by antagonizing phosphorylation of CRY1 Ser-588 and increasing CRY1 protein stability, most likely through an indirect machanism. Interacts with CRY1 and CRY2; negatively regulates CRY1 phosphorylation.
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.