RAD50 (gene)

RAD50
Identifiers
Aliases	RAD50, NBSLD, RAD502, hRad50, Rad50, RAD50 double strand break repair protein
External IDs	MGI: 109292 HomoloGene: 38092 GeneCards: RAD50
Gene ontology Molecular function • DNA binding • protein binding, bridging • nucleotide binding • ATP-dependent DNA helicase activity • metal ion binding • single-stranded DNA endodeoxyribonuclease activity • ATPase activity • protein binding • 3'-5' exonuclease activity • hydrolase activity • ATP binding • double-stranded telomeric DNA binding • adenylate kinase activity • G-quadruplex DNA binding • single-stranded telomeric DNA binding Cellular component • site of double-strand break • membrane • nucleoplasm • chromosome • chromosome, telomeric region • nuclear chromosome, telomeric region • nucleus • nuclear chromatin • condensed nuclear chromosome • Mre11 complex Biological process • reciprocal meiotic recombination • DNA recombination • telomere maintenance via telomerase • positive regulation of kinase activity • telomeric 3' overhang formation • cellular response to DNA damage stimulus • positive regulation of telomere maintenance • negative regulation of telomere capping • DNA duplex unwinding • meiotic cell cycle • double-strand break repair • positive regulation of protein autophosphorylation • cell cycle • viral process • double-strand break repair via nonhomologous end joining • telomere maintenance • regulation of mitotic recombination • nucleic acid phosphodiester bond hydrolysis • DNA replication • DNA double-strand break processing • telomere maintenance via recombination • DNA synthesis involved in DNA repair • chromosome organization involved in meiotic cell cycle • regulation of signal transduction by p53 class mediator • nucleotide phosphorylation • DNA repair • double-strand break repair via homologous recombination • strand displacement Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	10111	19360
Ensembl	ENSG00000113522	ENSMUSG00000020380
UniProt	Q92878	P70388
RefSeq (mRNA)	NM_133482 NM_005732	NM_009012
RefSeq (protein)	NP_005723	n/a
Location (UCSC)	Chr 5: 132.56 – 132.65 Mb	Chr 11: 53.65 – 53.71 Mb
PubMed search

10111

19360

ENSG00000113522

ENSMUSG00000020380

Q92878

P70388

NM_133482
NM_005732

NM_009012

NP_005723

n/a

DNA repair protein RAD50, also known as RAD50, is a protein that in humans is encoded by the RAD50 gene.

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 (also known as Xrs2 in yeast). This MRN complex (MRX complex in yeast) binds to broken DNA ends and displays numerous enzymatic activities that are required for double-strand break repair by nonhomologous end-joining or homologous recombination. Gene knockout studies of the mouse homolog of Rad50 suggest it is essential for cell growth and viability. Two alternatively spliced transcript variants of Rad50, which encode distinct proteins, have been reported.

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