| Gene Symbol |
RAD50
|
| Entrez Gene |
10111
|
| Alt Symbol |
NBSLD, RAD502, hRad50
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
RAD50 homolog (S. cerevisiae)
|
| Other Description |
DNA repair protein RAD50
|
| Swissprots |
Q9UP86 Q92878 Q6GMT7 B9EGF5 Q6P5X3 O43254
|
| Accessions |
EAW62328 EAW62329 EAW62330 Q92878 AF057299 AAD50325 AF057300 AAD50326 AK290597 BAF83286 AK307439 BC062603 AAH62603 BC073850 AAH73850 BC108282 AAI08283 BC136436 AAI36437 BC140005 AAI40006 DB112912 DQ655928 U63139 AAB07119 NM_005732 NP_005723 NM_133482
|
| Function |
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 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. {ECO:0000269|PubMed:10888888, ECO:0000269|PubMed:11741547, ECO:0000269|PubMed:15064416, ECO:0000269|PubMed:9590181, ECO:0000269|PubMed:9651580, ECO:0000269|PubMed:9705271}.
|
| Subcellular Location |
Nucleus. Chromosome, telomere. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents.
|
| Tissue Specificity |
Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts. {ECO:0000269|PubMed:8756642}.
|
| Top Pathways |
Homologous recombination, Non-homologous end-joining
|