| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
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|---|---|
Gene ID | 4683 |
Name | NBN |
Synonym | AT-V1|AT-V2|ATV|NBS|NBS1|P95;nibrin;NBN;nibrin |
Definition | Nijmegen breakage syndrome 1 (nibrin)|cell cycle regulatory protein p95|p95 protein of the MRE11/RAD50 complex |
Position | 8q21 |
Gene Type | protein-coding |
|
TSG scores |
Description |
| TUSON ranking | 11156 |
TUSON P-value | 1 |
|
Pathways and Diseases |
|
Pathway | Regulation of Telomerase;PID Curated;200072 |
Pathway | BARD1 signaling events;PID Curated;200174 |
Pathway | Homologous recombination;KEGG PATHWAY;hsa03440 |
Pathway | DNA Repair;Reactome;REACT:216 |
Pathway | role of brca1 brca2 and atr in cancer susceptibility;PID BioCarta;100234 |
Pathway | Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks;PID Reactome;500950 |
Pathway | ATM mediated phosphorylation of repair proteins;PID Reactome;500043 |
Pathway | MRN complex relocalizes to nuclear foci;PID Reactome;500045 |
Pathway | Validated targets of C-MYC transcriptional activation;PID Curated;200045 |
Disease | Hereditary disease;FunDO |
Disease | Fanconi's anemia;FunDO |
Disease | breast cancer;GAD |
Disease | Immune system diseases;KEGG DISEASE |
Disease | Adenovirus infection;FunDO |
Disease | DNA repair defect;KEGG DISEASE;H00094 |
Disease | CANCER;GAD |
Disease | Cancer;FunDO |
Disease | Neoplasms;GAD |
Disease | Primary immunodeficiency;KEGG DISEASE |
Disease | Immunologic deficiency syndrome;FunDO |
Disease | Werner syndrome;FunDO |
|
External Links |
|
Links to Entrez Gene | 4683 |
Links to all GeneRIF Items | 4683 |
Links to iHOP | 4683 |
|
Sequence Information |
The sequences provided here are only the longest representative sequences, not covering all the isoforms. |
Nucleotide Sequence |
>4683 : length: 2265 atgtggaaactgctgcccgccgcgggcccggcaggaggagaaccatacagacttttgact ggcgttgagtacgttgttggaaggaaaaactgtgccattctgattgaaaatgatcagtcg atcagccgaaatcatgctgtgttaactgctaacttttctgtaaccaacctgagtcaaaca gatgaaatccctgtattgacattaaaagataattctaagtatggtacctttgttaatgag gaaaaaatgcagaatggcttttcccgaactttgaagtcgggggatggtattacttttgga gtgtttggaagtaaattcagaatagagtatgagcctttggttgcatgctcttcttgttta gatgtctctgggaaaactgctttaaatcaagctatattgcaacttggaggatttactgta aacaattggacagaagaatgcactcaccttgtcatggtatcagtgaaagttaccattaaa acaatatgtgcactcatttgtggacgtccaattgtaaagccagaatattttactgaattc ctgaaagcagttgagtccaagaagcagcctccacaaattgaaagtttttacccacctctt gatgaaccatctattggaagtaaaaatgttgatctgtcaggacggcaggaaagaaaacaa atcttcaaagggaaaacatttatatttttgaatgccaaacagcataagaaattgagttcc gcagttgtctttggaggtggggaagctaggttgataacagaagagaatgaagaagaacat aatttctttttggctccgggaacgtgtgttgttgatacaggaataacaaactcacagacc ttaattcctgactgtcagaagaaatggattcagtcaataatggatatgctccaaaggcaa ggtcttagacctattcctgaagcagaaattggattggcggtgattttcatgactacaaag aattactgtgatcctcagggccatcccagtacaggattaaagacaacaactccaggacca agcctttcacaaggcgtgtcagttgatgaaaaactaatgccaagcgccccagtgaacact acaacatacgtagctgacacagaatcagagcaagcagatacatgggatttgagtgaaagg ccaaaagaaatcaaagtctccaaaatggaacaaaaattcagaatgctttcacaagatgca cccactgtaaaggagtcctgcaaaacaagctctaataataatagtatggtatcaaatact ttggctaagatgagaatcccaaactatcagctttcaccaactaaattgccaagtataaat aaaagtaaagatagggcttctcagcagcagcagaccaactccatcagaaactactttcag ccgtctaccaaaaaaagggaaagggatgaagaaaatcaagaaatgtcttcatgcaaatca gcaagaatagaaacgtcttgttctcttttagaacaaacacaacctgctacaccctcattg tggaaaaataaggagcagcatctatctgagaatgagcctgtggacacaaactcagacaat aacttatttacagatacagatttaaaatctattgtgaaaaattctgccagtaaatctcat gctgcagaaaagctaagatcaaataaaaaaagggaaatggatgatgtggccatagaagat gaagtattggaacagttattcaaggacacaaaaccagagttagaaattgatgtgaaagtt caaaaacaggaggaagatgtcaatgttagaaaaaggccaaggatggatatagaaacaaat gacactttcagtgatgaagcagtaccagaaagtagcaaaatatctcaagaaaatgaaatt gggaagaaacgtgaactcaaggaagactcactatggtcagctaaagaaatatctaacaat gacaaacttcaggatgatagtgagatgcttccaaaaaagctgttattgactgaatttaga tcactggtgattaaaaactctacttccagaaatccatctggcataaatgatgattatggt caactaaaaaatttcaagaaattcaaaaaggtcacatatcctggagcaggaaaacttcca cacatcattggaggatcagatctaatagctcatcatgctcgaaagaatacagaactagaa gagtggctaaggcaggaaatggaggtacaaaatcaacatgcaaaagaagagtctcttgct gatgatctttttagatacaatccttatttaaaaaggagaagataa |
Protein Sequence |
>4683 : length: 754 MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQT DEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCL DVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEF LKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQ GLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNT TTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNT LAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKS ARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSH AAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETN DTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFR SLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELE EWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR |