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RAD50 homolog, double strand break repair protein (HGNC Symbol)
Entrez gene summary
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.[provided by RefSeq, Apr 2010]
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000014 [single-stranded DNA endodeoxyribonuclease activity] GO:0000019 [regulation of mitotic recombination] GO:0000723 [telomere maintenance] GO:0000724 [double-strand break repair via homologous recombination] GO:0000784 [nuclear chromosome, telomeric region] GO:0003677 [DNA binding] GO:0004003 [ATP-dependent DNA helicase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006281 [DNA repair] GO:0006302 [double-strand break repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0006310 [DNA recombination] GO:0006974 [cellular response to DNA damage stimulus] GO:0007004 [telomere maintenance via telomerase] GO:0007131 [reciprocal meiotic recombination] GO:0007346 [regulation of mitotic cell cycle] GO:0008408 [3'-5' exonuclease activity] GO:0016020 [membrane] GO:0016032 [viral process] GO:0016887 [ATPase activity] GO:0030674 [protein binding, bridging] GO:0030870 [Mre11 complex] GO:0031954 [positive regulation of protein autophosphorylation] GO:0032508 [DNA duplex unwinding] GO:0033674 [positive regulation of kinase activity] GO:0035861 [site of double-strand break] GO:0045003 [double-strand break repair via synthesis-dependent strand annealing] GO:0045120 [pronucleus] GO:0046872 [metal ion binding] GO:0051276 [chromosome organization] GO:0070192 [chromosome organization involved in meiosis] GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
