RAD50 — RAD50 double strand break repair protein
RAD50 belongs to a gene co-expression module in 3 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
RAD50's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| Gamma-delta T cells | Interferon Antiviral Response Inflammation | ANKRD44, DDX17, DDX60L, IARS2, KIAA0319L, KRBOX5, LZIC, MIA2 +14 more | |
| Macrophages | Resident Mac Niche Tissue homeostasis | AGGF1, ALDH1A1, ARL5A, CD163L1, CD209, CHN2, CLEC4F, CLIC2 +22 more | View in SCUBA |
| Mucosal-associated invariant T cell | mRNA Export & Processing RNA processing & translation | HLTF, KDSR, KIAA0040, MRPS12, NOSIP, PCED1B, SMIM14, STMN3 +6 more |
About the gene
| Synonyms | hRad50, RAD50-2 |
|---|---|
| Chromosome | 5: 132556019-132646349 |
| Predicted location | Intracellular |
| Essential gene | No |
| Protein class | Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins |
| Molecular function | Hydrolase |
| Biological process | Cell cycle, DNA damage, DNA repair, Host-virus interaction, Meiosis |
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 MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases. The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage. The MRN complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11, to initiate end resection, which is required for single-strand invasion and recombination. Within the complex, RAD50 is both required to bind DNA ends and hold them in close proximity and regulate the activity of MRE11. RAD50 provides an ATP-dependent control of MRE11 by positioning DNA ends into the MRE11 active site: ATP-binding induces a large structural change from an open form with accessible MRE11 nuclease sites into a closed form (By similarity). The MRN complex is also required for DNA damage signaling via activation of the ATM and ATR kinases: the nuclease activity of MRE11 is not required to activate ATM and ATR. The MRN complex is also required for the processing of R-loops. In telomeres the MRN complex may modulate t-loop formation.
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.