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).
Tissue Specificity:
Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts.
Involvement in Disease:
Nijmegen breakage syndrome-like disorder: 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.
Sequence Similarities:
Belongs to the SMC family. RAD50 subfamily.
Cellular Location:
Nucleus. Chromosome > Telomere.
Localizes to discrete nuclear foci after treatment with genotoxic agents.
Database Links:
Entrez Gene: 10111?Human
Entrez Gene: 19360?Mouse
Omim: 604040?Human
SwissProt: Q92878?Human
SwissProt: P70388?Mouse
Unigene: 633509?Human
Unigene: 4888?Mouse
Synonyms:
DNA repair protein RAD50 Antibody
hRAD50 Antibody
hsRAD50 Antibody
Mrell Antibody
NBSLD Antibody
Rad 50 Antibody
Rad50 Antibody
RAD50 2 Antibody
RAD50 homolog Antibody
RAD50 homolog (S cerevisiae) Antibody
RAD50 PEN Antibody
RAD50, S. cerevisiae, homolog of Antibody
RAD502 Antibody
Rad50l Antibody
RAD50_HUMAN Antibody
Truncated RAD50 protein Antibody
Information:
Target information shown above is from the UniProt Consortium.