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Mouse PRKDC  Antibody

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PRKDC

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    PRKDC Summary & Protein Information

    PRKDC Background

    Catalytic activity: ATP + a protein = ADP + a phosphoprotein.
    Enzyme regulation: ENZYME REGULATION: Inhibited by wortmannin. Activity of the enzyme seems to be attenuated by autophosphorylation. {ECO:0000269|PubMed:9766667}.
    Subunit structure: Interacts with SETX (PubMed:23149945). DNA-PK is a heterotrimer of PRKDC and the Ku p70-p86 (XRCC6-XRCC5) dimer. Formation of this complex may be promoted by interaction with ILF3. Associates with the DNA-bound Ku heterodimer, but it can also bind to and be activated by free DNA. Interacts with DNA-PKcs-interacting protein (KIP) with the region upstream the kinase domain. PRKDC alone also interacts with and phosphorylates DCLRE1C, thereby activating the latent endonuclease activity of this protein. Interacts with C1D. Interacts with TTI1 and TELO2. Interacts with CIB1. {ECO:0000269|PubMed:11955432, ECO:0000269|PubMed:14744996, ECO:0000269|PubMed:15071507, ECO:0000269|PubMed:15456891, ECO:0000269|PubMed:15574326, ECO:0000269|PubMed:15758953, ECO:0000269|PubMed:15811628, ECO:0000269|PubMed:15936993, ECO:0000269|PubMed:20427287, ECO:0000269|PubMed:20801936, ECO:0000269|PubMed:20810650, ECO:0000269|PubMed:23149945, ECO:0000269|PubMed:9372844, ECO:0000269|PubMed:9442054, ECO:0000269|PubMed:9679063}.
    Subcellular location: Nucleus. Nucleus, nucleolus.
    Post-translational: Autophosphorylated on Ser-2056, Thr-2609, Thr-2638 and Thr-2647. Ser-2056 and Thr-2609 are DNA damage-inducible phosphorylation sites (inducible with ionizing radiation, IR) dephosphorylated by PPP5C. Autophosphorylation induces a conformational change that leads to remodeling of the DNA-PK complex, requisite for efficient end processing and DNA repair. {ECO:0000269|PubMed:10026262, ECO:0000269|PubMed:10467406, ECO:0000269|PubMed:11889123, ECO:0000269|PubMed:12186630, ECO:0000269|PubMed:12231622, ECO:0000269|PubMed:12509254, ECO:0000269|PubMed:14612514, ECO:0000269|PubMed:14627815, ECO:0000269|PubMed:14704337, ECO:0000269|PubMed:14734805, ECO:0000269|PubMed:1597196, ECO:0000269|PubMed:16046194, ECO:0000269|PubMed:16397295, ECO:0000269|PubMed:2247066, ECO:0000269|PubMed:2507541, ECO:0000269|PubMed:8407951, ECO:0000269|PubMed:8464713, ECO:0000269|PubMed:8804412, ECO:0000269|PubMed:9139719, ECO:0000269|PubMed:9362500, ECO:0000269|PubMed:9363941}.; S-nitrosylated by GAPDH. {ECO:0000250}.; Polyubiquitinated by RNF144A, leading to proteasomal degradation. {ECO:0000269|PubMed:24979766}.
    Involvement in disease: DISEASE: Immunodeficiency 26 with or without neurologic abnormalities (IMD26) [MIM:615966]: A form of severe combined immunodeficiency characterized by reduced or absent T and B cells, recurrent candidiasis, and lower respiratory tract infections. Some patients show dysmorphic features, severe growth failure, microcephaly, seizures, and impaired neurological functions. {ECO:0000269|PubMed:19075392, ECO:0000269|PubMed:23722905}. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Sequence similarity: Belongs to the PI3/PI4-kinase family. {ECO:0000305}.; Contains 1 FAT domain. {ECO:0000255|PROSITE-ProRule:PRU00534}.; Contains 1 FATC domain. {ECO:0000255|PROSITE-ProRule:PRU00535}.; Contains 2 HEAT repeats. {ECO:0000305}.; Contains 1 PI3K/PI4K domain. {ECO:0000255|PROSITE-ProRule:PRU00269}.; Contains 3 TPR repeats. {ECO:0000305}.
    General information above from UniProt

    PRKDC Alternative Name

    HYRC,p350,DNAPK,DNPK1,HYRC1,IMD26,XRCC7,DNA-PKcs, [homo-sapiens]
    p460,scid,slip,DNAPK,DNPK1,HYRC1,XRCC7,dxnph,DOXNPH,DNAPDcs,AI326420,AU019811,DNA-PKcs, [mus-musculus]

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