RAD50
Summary: 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. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| RAD50 double strand break repair protein | MIM:604040 | Ensembl:ENSG00000113522 | HGNC:HGNC:9816 | PA34175 | 5q31.1 |
GO terms in RAD50
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0000019 | regulation of mitotic recombination |
| BP | IBA | GO:0000722 | telomere maintenance via recombination |
| BP | TAS | GO:0000723 | telomere maintenance |
| BP | TAS | GO:0000724 | double-strand break repair via homologous recombination |
| BP | TAS | GO:0000729 | DNA double-strand break processing |
| BP | TAS | GO:0006260 | DNA replication |
| BP | IDA | GO:0006281 | DNA repair |
| BP | IMP | GO:0006302 | double-strand break repair |
| BP | TAS | GO:0006303 | double-strand break repair via nonhomologous end joining |
| BP | IDA | GO:0006310 | DNA recombination |
| BP | IDA | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IBA | GO:0007004 | telomere maintenance via telomerase |
| BP | IDA | GO:0007004 | telomere maintenance via telomerase |
| BP | TAS | GO:0007131 | reciprocal meiotic recombination |
| BP | IEA | GO:0016032 | viral process |
| BP | IBA | GO:0016233 | telomere capping |
| BP | IMP | GO:0031860 | telomeric 3' overhang formation |
| BP | IDA | GO:0031954 | positive regulation of protein autophosphorylation |
| BP | IMP | GO:0032206 | positive regulation of telomere maintenance |
| BP | IBA | GO:0032508 | DNA duplex unwinding |
| BP | IMP | GO:0032508 | DNA duplex unwinding |
| BP | IDA | GO:0033674 | positive regulation of kinase activity |
| BP | IEA | GO:0046940 | nucleoside monophosphate phosphorylation |
| BP | IBA | GO:0070192 | chromosome organization involved in meiotic cell cycle |
| BP | IBA | GO:0090305 | nucleic acid phosphodiester bond hydrolysis |
| BP | IEA | GO:0090305 | nucleic acid phosphodiester bond hydrolysis |
| BP | IDA | GO:1904354 | negative regulation of telomere capping |
| CC | HDA | GO:0000784 | nuclear chromosome, telomeric region |
| CC | IBA | GO:0000784 | nuclear chromosome, telomeric region |
| CC | IDA | GO:0000784 | nuclear chromosome, telomeric region |
| CC | IDA | GO:0000784 | nuclear chromosome, telomeric region |
| CC | IBA | GO:0000790 | nuclear chromatin |
| CC | IBA | GO:0000794 | condensed nuclear chromosome |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | HDA | GO:0016020 | membrane |
| CC | IBA | GO:0030870 | Mre11 complex |
| CC | IDA | GO:0030870 | Mre11 complex |
| CC | TAS | GO:0030870 | Mre11 complex |
| CC | IBA | GO:0035861 | site of double-strand break |
| CC | IDA | GO:0035861 | site of double-strand break |
| MF | IBA | GO:0000014 | single-stranded DNA endodeoxyribonuclease activity |
| MF | IDA | GO:0000014 | single-stranded DNA endodeoxyribonuclease activity |
| MF | IDA | GO:0003677 | DNA binding |
| MF | IBA | GO:0003691 | double-stranded telomeric DNA binding |
| MF | IBA | GO:0004003 | ATP-dependent DNA helicase activity |
| MF | IMP | GO:0004003 | ATP-dependent DNA helicase activity |
| MF | IBA | GO:0004017 | adenylate kinase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IBA | GO:0008408 | 3'-5' exonuclease activity |
| MF | IDA | GO:0008408 | 3'-5' exonuclease activity |
| MF | IDA | GO:0030674 | protein binding, bridging |
| MF | IBA | GO:0043047 | single-stranded telomeric DNA binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IBA | GO:0051880 | G-quadruplex DNA binding |
Gene expression in normal tissue: RAD50
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RAD50
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | atrbrcapathway | role of brca1 brca2 and atr in cancer susceptibility |
| reactome | R-HSA-1474165 | Reproduction |
| reactome | R-HSA-1500620 | Meiosis |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2262752 | Cellular responses to stress |
| reactome | R-HSA-2559583 | Cellular Senescence |
| reactome | R-HSA-2559586 | DNA Damage/Telomere Stress Induced Senescence |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-5633007 | Regulation of TP53 Activity |
| reactome | R-HSA-5685938 | HDR through Single Strand Annealing (SSA) |
| reactome | R-HSA-5685939 | HDR through MMEJ (alt-NHEJ) |
| reactome | R-HSA-5685942 | HDR through Homologous Recombination (HRR) |
| reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
| reactome | R-HSA-5693537 | Resolution of D-Loop Structures |
| reactome | R-HSA-5693538 | Homology Directed Repair |
| reactome | R-HSA-5693548 | Sensing of DNA Double Strand Breaks |
| reactome | R-HSA-5693554 | Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) |
| reactome | R-HSA-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks |
| reactome | R-HSA-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) |
| reactome | R-HSA-5693568 | Resolution of D-loop Structures through Holliday Junction Intermediates |
| reactome | R-HSA-5693571 | Nonhomologous End-Joining (NHEJ) |
| reactome | R-HSA-5693579 | Homologous DNA Pairing and Strand Exchange |
| reactome | R-HSA-5693606 | DNA Double Strand Break Response |
| reactome | R-HSA-5693607 | Processing of DNA double-strand break ends |
| reactome | R-HSA-5693616 | Presynaptic phase of homologous DNA pairing and strand exchange |
| reactome | R-HSA-6804756 | Regulation of TP53 Activity through Phosphorylation |
| reactome | R-HSA-69473 | G2/M DNA damage checkpoint |
| reactome | R-HSA-69481 | G2/M Checkpoints |
| reactome | R-HSA-69620 | Cell Cycle Checkpoints |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8953897 | Cellular responses to external stimuli |
| reactome | R-HSA-912446 | Meiotic recombination |
| wikipathways | WP1530 | miRNA Regulation of DNA Damage Response |
| wikipathways | WP186 | Homologous recombination |
| wikipathways | WP2942 | DDX1 as a regulatory component of the Drosha microprocessor |
| wikipathways | WP3878 | ATM Signaling Network in Development and Disease |
| wikipathways | WP438 | Non-homologous end joining |
| wikipathways | WP707 | DNA Damage Response |
| kegg | hsa03440 | Homologous recombination - Homo sapiens (human) |
| kegg | hsa03450 | Non-homologous end-joining - Homo sapiens (human) |
| kegg | hsa04218 | Cellular senescence - Homo sapiens (human) |
| pid | atm_pathway | ATM pathway |
| pid | bard1pathway | BARD1 signaling events |
| pid | fanconi_pathway | Fanconi anemia pathway |
| pid | telomerasepathway | Regulation of Telomerase |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD271 | Brefeldin A | 2 |
| iGMDRD881 | CHK1/2 inhibitor | 1 |
| iGMDRD481 | Dactolisib | 1 |
| iGMDRD415 | LE-135 | 2 |
| iGMDRD68 | Paclitaxel | 1 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD6 | AM-580 | 3 |
| iGMDRD80 | Irinotecan | 1 |
| iGMDRD414 | MST-312 | 1 |
| iGMDRD82 | Quiflapon | 3 |
| iGMDRD774 | ETP-46464 | 1 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD84 | Lovastatin acid | 1 |
| iGMDRD299 | ICL 670 | 1 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 4 |
| iGMDRD57 | Chloropentafluorobenzene | 5 |
| iGMDRD36 | Phloretin | 1 |
| iGMDRD177 | Teniposide | 2 |
| iGMDRD211 | (1S,3R)-RSL3 | 2 |
| iGMDRD901 | ELCPK | 3 |
| iGMDRD802 | 4-methylfasudil | 2 |
| iGMDRD255 | SB225002 | 4 |
| iGMDRD138 | PX 12 | 3 |
| iGMDRD782 | DC-45-A2 | 2 |
| iGMDRD562 | Navitoclax | 6 |
| iGMDRD577 | BIX01294 | 5 |
| iGMDRD100 | Zebularine | 2 |
| iGMDRD451 | Serdemetan | 2 |
| iGMDRD268 | Cerulenin | 1 |
| iGMDRD60 | Quinoclamine | 2 |
| iGMDRD533 | HSCI1_000270 | 1 |
| iGMDRD579 | PF750 | 1 |
| iGMDRD1008 | SR-II-138A | 1 |
| iGMDRD489 | GSK-461364 | 1 |
| iGMDRD528 | rigosertib | 1 |
| iGMDRD193 | Fqi1 | 2 |
| iGMDRD71 | Sparfosic acid | 3 |
| iGMDRD446 | LY 2183240 | 1 |
| iGMDRD634 | SCHEMBL2608041 | 2 |
| iGMDRD697 | Methylstat | 1 |
| iGMDRD375 | GW-405833 | 2 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD121 | GMX1778 | 1 |
| iGMDRD137 | Indisulam | 2 |
| iGMDRD158 | NSC141540 | 7 |
| iGMDRD244 | ML311 | 1 |
| iGMDRD295 | Bleomycin a2 | 1 |
| iGMDRD705 | Nakiterpiosin | 1 |
| iGMDRD366 | PI-103 | 1 |
| iGMDRD662 | JQ-1 | 3 |
| iGMDRD367 | Ro 28-1675 | 1 |
| iGMDRD314 | Tanespimycin | 2 |
| iGMDRD548 | Marinopyrrole A | 1 |
| iGMDRD341 | Triacsin c | 3 |
| iGMDRD154 | NSC23766 | 2 |
| iGMDRD81 | Irinotecan plus CHK1/2 inhibitor in ATM deficient tumor | 1 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD260 | FQI-2 | 5 |
| iGMDRD187 | BRD9876 | 3 |
| iGMDRD226 | ML006 | 3 |
| iGMDRD171 | Pemetrexed | 2 |
| iGMDRD207 | Capsaicin | 2 |
| iGMDRD888 | Compound 44 | 3 |
| iGMDRD323 | Leptomycin B | 1 |
| iGMDRD188 | Piperlongumine | 4 |
| iGMDRD356 | PNU-74654 | 1 |
| iGMDRD94 | Narciclasine | 1 |
| iGMDRD64 | Parbendazole | 1 |
| iGMDRD420 | Leucascandrolide A | 3 |
| iGMDRD433 | Lexibulin | 3 |
| iGMDRD151 | CHM-1 | 4 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD781 | Sirolimus | 3 |
| iGMDRD483 | SCH-529074 | 2 |
| iGMDRD1 | Nicotin-Amide | 1 |
| iGMDRD670 | ML 210 | 2 |
| iGMDRD427 | ABT737 | 3 |
| iGMDRD779 | PRL-3 Inhibitor I | 3 |
| iGMDRD2 | PK-11195 | 3 |
| iGMDRD394 | BX-795 | 3 |
| iGMDRD679 | Bistramide A | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RAD50
CLASSFICATION
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