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

Chromosomal Location of Human Ortholog: 8q11

Cellular Component: nucleoplasm; transcription factor complex; membrane; nucleolus; DNA-dependent protein kinase complex; cytosol

Molecular Function: protein serine/threonine kinase activity; protein binding; enzyme binding; DNA binding; DNA-dependent protein kinase activity; transcription factor binding; ATP binding; protein kinase activity

Biological Process: positive regulation of apoptosis; heart development; germ cell programmed cell death; T cell differentiation in the thymus; rhythmic process; double-strand break repair via nonhomologous end joining; negative regulation of protein amino acid phosphorylation; double-strand break repair; positive regulation of interferon type I production; response to gamma radiation; telomere maintenance; pro-B cell differentiation; somitogenesis; protein destabilization; immunoglobulin V(D)J recombination; B cell lineage commitment; protein modification process; regulation of circadian rhythm; DNA repair; double-strand break repair via homologous recombination; T cell lineage commitment; peptidyl-serine phosphorylation; DNA damage response, signal transduction resulting in induction of apoptosis; cellular response to insulin stimulus; innate immune response; T cell receptor V(D)J recombination; positive regulation of transcription from RNA polymerase II promoter; brain development

Disease: Immunodeficiency 26 With Or Without Neurologic Abnormalities