| Gene ID | 4683 |
| Symbol | NBN |
| Synonymous | AT-V1|AT-V2|ATV|NBS|NBS1|P95 |
| Full name | nibrin |
| Gene description | Nijmegen breakage syndrome 1 (nibrin)|cell cycle regulatory protein p95|p95 protein of the MRE11/RAD50 complex |
| Cytoband | 8q21 |
| Gene type | protein-coding |
| Synonymous | MIM:602667; HGNC:HGNC:7652; Ensembl:ENSG00000104320; HPRD:04050; Vega:OTTHUMG00000153546 |
Pathways and Diseases | Detail |
|---|---|
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 |
Sequence Information | |
|---|---|
Nucleotide Sequence | >4683 : length: 4724 AAGCGCCCAAGTCGCACTCCCGCCTCATCCAAGGCAGCCTGCGTGGCTCCCGGGAGCGCGCACGTCCCGGAGCCCATGCCGACCGCAGGCGCCGTATCCGCGCTCGTCTAGCAGCCCCGG TTACGCGGTTGCACGTCGGCCCCAGCCCTGAGGAGCCGGACCGATGTGGAAACTGCTGCCCGCCGCGGGCCCGGCAGGAGGAGAACCATACAGACTTTTGACTGGCGTTGAGTACGTTGT TGGAAGGAAAAACTGTGCCATTCTGATTGAAAATGATCAGTCGATCAGCCGAAATCATGCTGTGTTAACTGCTAACTTTTCTGTAACCAACCTGGTATAGAAAAACATTTTGGAAATTTC TACAGAAAAAGTAAAATTGTTACTAGTCAAACAGATGAAATCCCTGTATTGACATTAAAAGATAATTCTAAGTATGGTACCTTTGTTAATGAGGAAAAAATGCAGAATGGCTTTTCCCGA ACTTTGAAGTCGGGGGATGGTATTACTTTTGGAGTGTTTGGAAGTAAATTCAGAATAGAGTATGAGCCTTTGGTTGCATGCTCTTCTTGTTTAGATGTCTCTGGGAAAACTGCTTTAAAT CAAGCTATATTGCAACTTGGAGGATTTACTGTAAACAATTGGACAGAAGAATGCACTCACCTTGTCATGGTATCAGTGAAAGTTACCATTAAAACAATATGTGCACTCATTTGTGGACGT CCAATTGTAAAGCCAGAATATTTTACTGAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCACAAATTGAAAGTTTTTACCCACCTCTTGATGAACCATCTATTGGAAGTAAAAAT GTTGATCTGTCAGGACGGCAGGAAAGAAAACAAATCTTCAAAGGGAAAACATTTATATTTTTGAATGCCAAACAGCATAAGAAATTGAGTTCCGCAGTTGTCTTTGGAGGTGGGGAAGCT AGGTTGATAACAGAAGAGAATGAAGAAGAACATAATTTCTTTTTGGCTCCGGGAACGTGTGTTGTTGATACAGGAATAACAAACTCACAGACCTTAATTCCTGACTGTCAGAAGAAATGG ATTCAGTCAATAATGGATATGCTCCAAAGGCAAGGTCTTAGACCTATTCCTGAAGCAGAAATTGGATTGGCGGTGATTTTCATGACTACAAAGAATTACTGTGATCCTCAGGGCCATCCC AGTACAGGATTAAAGACAACAACTCCAGGACCAAGCCTTTCACAAGGCGTGTCAGTTGATGAAAAACTAATGCCAAGCGCCCCAGTGAACACTACAACATACGTAGCTGACACAGAATCA GAGCAAGCAGATACATGGGATTTGAGTGAAAGGCCAAAAGAAATCAAAGTCTCCAAAATGGAACAAAAATTCAGAATGCTTTCACAAGATGCACCCACTGTAAAGGAGTCCTGCAAAACA AGCTCTAATAATAATAGTATGGTATCAAATACTTTGGCTAAGATGAGAATCCCAAACTATCAGCTTTCACCAACTAAATTGCCAAGTATAAATAAAAGTAAAGATAGGGCTTCTCAGCAG CAGCAGACCAACTCCATCAGAAACTACTTTCAGCCGTCTACCAAAAAAAGGGAAAGGGATGAAGAAAATCAAGAAATGTCTTCATGCAAATCAGCAAGAATAGAAACGTCTTGTTCTCTT TTAGAACAAACACAACCTGCTACACCCTCATTGTGGAAAAATAAGGAGCAGCATCTATCTGAGAATGAGCCTGTGGACACAAACTCAGACAATAACTTATTTACAGATACAGATTTAAAA TCTATTGTGAAAAATTCTGCCAGTAAATCTCATGCTGCAGAAAAGCTAAGATCAAATAAAAAAAGGGAAATGGATGATGTGGCCATAGAAGATGAAGTATTGGAACAGTTATTCAAGGAC ACAAAACCAGAGTTAGAAATTGATGTGAAAGTTCAAAAACAGGAGGAAGATGTCAATGTTAGAAAAAGGCCAAGGATGGATATAGAAACAAATGACACTTTCAGTGATGAAGCAGTACCA GAAAGTAGCAAAATATCTCAAGAAAATGAAATTGGGAAGAAACGTGAACTCAAGGAAGACTCACTATGGTCAGCTAAAGAAATATCTAACAATGACAAACTTCAGGATGATAGTGAGATG CTTCCAAAAAAGCTGTTATTGACTGAATTTAGATCACTGGTGATTAAAAACTCTACTTCCAGAAATCCATCTGGCATAAATGATGATTATGGTCAACTAAAAAATTTCAAGAAATTCAAA AAGGTCACATATCCTGGAGCAGGAAAACTTCCACACATCATTGGAGGATCAGATCTAATAGCTCATCATGCTCGAAAGAATACAGAACTAGAAGAGTGGCTAAGGCAGGAAATGGAGGTA CAAAATCAACATGCAAAAGAAGAGTCTCTTGCTGATGATCTTTTTAGATACAATCCTTATTTAAAAAGGAGAAGATAACTGAGGATTTTAAAAAGAAGCCATGGAAAAACTTCCTAGTAA GCATCTACTTCAGGCCAACAAGGTTATATGAATATATAGTGTATAGAAGCGATTTAAGTTACAATGTTTTATGGCCTAAATTTATTAAATAAAATGCACAAAACTTTGATTCTTTTGTAT GTAACAATTGTTTGTTCTGTTTTCAGGCTTTGTCATTGCATCTTTTTTTCATTTTTAAATGTGTTTTGTTTATTAAATAGTTAATATAGTCACAGTTCAAAATTCTAAATGTACGTAAGG TAAAGACTAAAGTCACCCTTCCACCATTGTCCTAGCTACTTGGTTCCCCTCAGAAAAAAATTCATGATACTCATTTCTTATGAATCTTTCCAGGGATTTTTGAGTCCTATTCAAATTCCT ATTTTTAAATAATTTCCTACACAAATGATAGCATAACATATGCAGTGTTCTACACCTTGCTTTTTTACTTAGTAGATTAAAAATTATAGGAATATCAATATAATGTTTTTAATATTTTTT CTTTTCCATTATGCTGTAGTCTTACCTAAACTCTGGTGATCCAAACAAAATGGCTTCAGTGGTGCAGATGTCACCTACATGTTATTCTAGTACTAGAAACTGAAGACCATGTGGAGACTT CATCAAACATGGGTTTAGTTTTCACCAGAATGGAAAGACCTGTACCCCTTTTTGGTGGTCTTACTGAGCTGGGTGGGTGTCTGTTTTGAGCTTATTTAGAGTCCTAGTTTTCCTACTTAT AAAGTAGAAATGGTGAGATTGTTTTCTTTTTCTACCTTAAAGGGAGATGGTAAGAAACAATGAATGTCTTTTTTCAAACTTTATTGACAAGTGATTTTCAAGTCTGTGTTCAAAAATATA TTCATGTACCTGTGATCCAGCAAGAAGGGAGTTCCAGTCAAGAGTCACTACAACTGATTAGTTGTTTAGAGAATGAGAAATGGAACAGTGAGGAATGGAGGCCATATTTCCATGACTTCC CTTGTAAACAGAAGCAACAGAAGGGACAAGAGGCTGGCCTCTACATCACTCTCACCTTCCAAATCTTGTGGAAGTGCATCTACTTGCCAGAACCAAATTAACTTACTTCCAAGTTCTGGC TGCTTGCAGGTGGAACTCCAGCTGCAAGGGAGTTAGGGAAATGAAGGTCTTTTTTTAAAAGCTTCTCAGCCTTCCTAGGGAACAGAAATTGGGTGAGCCAATCTGCAATTTCTACTACAG GCATTGAGACCAGTTAGATTATTGAAATATTATAGAGAGTTATGAACACTTAAATTATGATAGTGGTATGACATTGGATAGAACATGGGATACTTTAGAAGTAGAATTGACAGGGCATAT TAGTTGATGAAATGGAGTCATTTGAGTCTCTTAATAGCCATGTATCATAATTACCAAGTGAAGCTGGTGGAACATATGGTCTCCATTTTACAGTTAAGGAATATAATGGACAGATTAATA TTGTTCTCTGTCATGCCCACAATCCCTTTCTAAGGAAGACTGCCCTACTATAGCAGTTTTTATATTTGTCAATTTATGAATATAATGAATGAGAGTTCTGGTACCTCCTGTCTTTACAAA TATTGGTGTTGTCAGTATTTTTCCTTTTTAACCATTCCAATCGGTGTGTAGTGATGTTTCATTTTGGTTTTAATTTGTATATCCCTGATAGCTATAATTGGGTCATAGAAATTCTTTATA CATTCTAGATGCAAGTCTCTTGTCGGATATATGTATTGAGATATTACACCTAGTCTGTGGCTTGACTGTTTTCTTTATGTCTTTTGATGAATAGAAGTTTTAAATTTTGACAAGGTCAAA TTTATTTTTTTCTTTTGTTTGATATTTTTTCTCTCCAATTTAACCCCAAGATTTCAGATATTCTGCTCTATTATATAAACTTTATATTTTTATATTTGTGATCTACCTTGAATTGATATG TATGTTGTGAATTATGGATCAGGGTTCTTTTTTTCCCCCATACAAGTATCCAGTCATTGTAACACTGTTTATTGAAAGAATTATCCTTTCCTCATTAAATTACCTTGCCAATTAGTAAAA AATCAATTAACCATAATGGTGGATCTGTTTCTGGACTTTCTGTTTGGTTACACTGAAATGTTTGTCCATCCTTGCACTCACTCATACCATACTGCCTTGAATTACTGTAGCTGCATAGAT GCTCCTTAAGTTGGGATTACATTGTAATAAACGCAATGTAAGTT |
Protein Sequence | >4683 : length: 754 MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCL DVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNT TTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKS ARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETN DTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELE EWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR |