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RAD50RAD50 homolog (S. cerevisiae) |
Known also as: NBSLD; RAD502; hRad50;
| NCBI Gene ID: | 10111 |
| NCBI Ensembl Id: | ENSG00000113522 |
| MIM Id: (from NCBI OMIM database) | 604040 |
| Species: | Homo sapiens |
| The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder. |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
References:
| Authors | Title | Journal |
| Trujillo KM, Yuan SS, Lee EY, Sung P | Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95. | J Biol Chem Aug. 21, 1998 |
| Hopfner KP, Craig L, Moncalian G, Zinkel RA, Usui T, Owen BA, Karcher A, Henderson B, Bodmer JL, McMurray CT, Carney JP, Petrini JH, Tainer JA | The Rad50 zinc-hook is a structure joining Mre11 complexes in DNA recombination and repair. | Nature Aug. 1, 2002 |
| Lee JH, Paull TT | ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex. | Science April 22, 2005 |
| Huertas P, Cortes-Ledesma F, Sartori AA, Aguilera A, Jackson SP | CDK targets Sae2 to control DNA-end resection and homologous recombination. | Nature Oct. 2, 2008 |
Last modification of this entry: Oct. 6, 2010.
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