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Checkpoint Signaling & DNA Repair
Checkpoint Signaling and DNA Repair: RAD50
 
RAD50 Antibodies
 
Additional Information
 
 
 
 

Protein : RAD50

SwissProt Accessions | Entrez Gene links

Connectivity 60
Notes 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. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported.
Hugo ID 9816
Name RAD50
Description RAD50 homolog (S. cerevisiae)
URN urn:agi-llid:10111

GO Cellular Component membrane
Mre11 complex

Cell Localization Nucleus

GO Biological Process DNA repair
transport
double-strand break repair
meiotic recombination
regulation of mitotic recombination
telomerase-dependent telomere maintenance

State RAD50 homolog isoform 1
RAD50 homolog isoform 2

State Description Transcript Variant: This variant (1) contains an internal region absent in variant 2. The resulting protein is 139 aa longer at its N-terminus, as compared to isoform 2.
Transcript Variant: This variant (2) lacks an internal fragment, which leads to a translation frame shift when compared to variant 1. Translation begins at a down-stream start codon, and thus results in a protein that is 139 aa shorter at its N-terminu...

MGI ID 109292

Swiss-Prot Accession  O43254

OMIM ID OMIM:604040

Alias Rad50
RAD50 homolog (S. cerevisiae)
Mrell
Rad50l
hRad50
RAD50-2
RAD50 (S. cerevisiae) homolog
RAD50 homolog
RAD50 homolog isoform 1
RAD50 homolog isoform 2
RAD50 homolog isoform I
RAD50 homolog isoform II
RAD50 II

Organism Rattus norvegicus
Mus musculus
Human

Entrez ID  64012
19360
10111

RGD ID 621542

Pathway ATM signaling
DNA Repair

Unigene ID Rn.51136
Mm.4888
Hs.41587

Group nucleotide binding
hydrolase activity