Protein Kinase, DNA Activated, Catalytic Polypeptide (PRKDC) Antibody – Rabbit Polyclonal

DNAPK: an atypical protein kinase of the PIKK family. Involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. and modulation of transcription. 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. Defects cause severe combined immune deficiency (SCID) which is characterized by a lack of mature functional lymphocytes and a high susceptibility to lethal opportunistic infections. Required for repair of radiation-induced dsDNA breaks. Loss of function in mice or horses leads to the SCID (severe combined immune deficiency) phenotype due to failure of immunoglobulin rearrangement. Target of mutation in mismatch repair-deficient colorectal cancer. Inhibitor: KU-7059. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: ATYPICAL group; DNA repair, damage; DNAPK subfamily; EC 2.7.11.1; Kinase, protein; Nucleolus; PIKK family; Protein kinase, Ser/Thr (non-receptor); Protein kinase, atypical

Chromosomal Location of Human Ortholog: 16 10.09 cM|16 A2

Cellular Component: DNA-dependent protein kinase-DNA ligase 4 complex; extracellular matrix; membrane; nonhomologous end joining complex; nuclear chromosome, telomeric region; nucleolus; nucleoplasm; nucleus; protein complex; transcription factor complex

Molecular Function: ATP binding; DNA binding; DNA-dependent protein kinase activity; double-stranded DNA binding; enzyme binding; kinase activity; nucleotide binding; protein binding; protein domain specific binding; protein kinase activity; protein serine/threonine kinase activity; RNA binding; transcription factor binding; transferase activity

Biological Process: activation of innate immune response; B cell lineage commitment; brain development; cell proliferation; cellular response to DNA damage stimulus; cellular response to insulin stimulus; DNA damage response, signal transduction resulting in induction of apoptosis; DNA repair; double-strand break repair; double-strand break repair via nonhomologous end joining; germ cell programmed cell death; heart development; immune system process; immunoglobulin production; immunoglobulin V(D)J recombination; innate immune response; lymphocyte differentiation; negative regulation of apoptosis; negative regulation of cellular senescence; negative regulation of immunoglobulin production; negative regulation of protein phosphorylation; negative regulation of response to gamma radiation; peptidyl-serine phosphorylation; phosphorylation; positive regulation of apoptosis; positive regulation of developmental growth; positive regulation of fibroblast proliferation; positive regulation of immune system process; positive regulation of transcription from RNA polymerase II promoter; pro-B cell differentiation; protein amino acid phosphorylation; protein destabilization; regulation of circadian rhythm; regulation of smooth muscle cell proliferation; response to gamma radiation; response to ionizing radiation; rhythmic process; signal transduction involved in mitotic G1 DNA damage checkpoint; somitogenesis; spleen development; T cell differentiation in thymus; T cell lineage commitment; T cell receptor V(D)J recombination; telomere capping; telomere maintenance; thymus development; V(D)J recombination