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RAD50 a component of the Mre11-Rad50-NBS1 (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 MRE11A. 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 MRE11A to prevent nucleolytic degradation past a given point. The complex may also be required for DNA damage signaling via activation of the ATM kinase. In telomeres the MRN complex may modulate t-loop formation. Three alternatively spliced isoforms have been described. Note: This description may include information from UniProtKB.
Protein type: Adaptor/scaffold; DNA repair, damage; EC 3.6.-.-; Hydrolase
Chromosomal Location of Human Ortholog: 5q31.1
Cellular Component: condensed nuclear chromosome; membrane; Mre11 complex; nuclear chromatin; nuclear chromosome, telomeric region; nucleoplasm
Molecular Function: 3'-5' exonuclease activity; adenylate kinase activity; ATP-dependent DNA helicase activity; DNA binding; double-stranded telomeric DNA binding; G-quadruplex DNA binding; protein binding; protein binding, bridging; single-stranded DNA specific endodeoxyribonuclease activity; single-stranded telomeric DNA binding
Biological Process: DNA double-strand break processing; DNA duplex unwinding; DNA recombination; DNA repair; DNA replication; DNA synthesis during DNA repair; double-strand break repair; double-strand break repair via homologous recombination; double-strand break repair via nonhomologous end joining; meiotic recombination; positive regulation of kinase activity; positive regulation of protein amino acid autophosphorylation; positive regulation of telomere maintenance; regulation of mitotic recombination; response to DNA damage stimulus; strand displacement; telomere maintenance; telomere maintenance via recombination; telomere maintenance via telomerase; telomeric 3' overhang formation
Disease: Nijmegen Breakage Syndrome-like Disorder
Reference #:  Q92878 (UniProtKB)
Alt. Names/Synonyms: DNA repair protein RAD50; hRAD50; NBSLD; RAD50; RAD50 homolog (S. cerevisiae); RAD50-2
Gene Symbols: RAD50
Molecular weight: 153,892 Da
Basal Isoelectric point: 6.47  Predict pI for various phosphorylation states
CST Pathways:  G2/M DNA Damage Checkpoint
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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