RAD50

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.

RAD50 DOUBLE STRAND BREAK REPAIR PROTEIN

Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11 to prevent nucleolytic degradation past a given point (PubMed:11741547, PubMed:9590181, PubMed:9705271, PubMed:9651580).
The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416).
In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888).

Biological Process cellular response to DNA damage stimulusManual Assertion Based On ExperimentIDA:MGI
Biological Process chromosome organization involved in meiotic cell cycleManual Assertion Based On ExperimentIBA:GO_Central
Biological Process DNA double-strand break processing1 PublicationIC:ComplexPortal
Biological Process DNA duplex unwindingManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process DNA recombinationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process DNA repairManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process DNA strand resection involved in replication fork processing1 PublicationIC:ComplexPortal
Biological Process double-strand break repairManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process homologous recombination1 PublicationIC:ComplexPortal
Biological Process mitotic G2/M transition checkpoint1 PublicationIC:ComplexPortal
Biological Process negative regulation of telomere cappingManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process nucleic acid phosphodiester bond hydrolysisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process positive regulation of kinase activityManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process positive regulation of protein autophosphorylationManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process positive regulation of telomere maintenanceManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process reciprocal meiotic recombinationManual Assertion Based On ExperimentTAS:ProtInc
Biological Process regulation of mitotic recombinationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process telomere maintenanceManual Assertion Based On ExperimentTAS:BHF-UCL
Biological Process telomere maintenance via recombinationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process telomere maintenance via telomeraseManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process telomeric 3' overhang formationManual Assertion Based On ExperimentIMP:BHF-UCL

Nucleus
Chromosome, telomere
Chromosome
Localizes to discrete nuclear foci after treatment with genotoxic agents.

Nijmegen breakage syndrome-like disorder (NBSLD):
A disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent.