| UniProt/SwissProt ID: | NBN_HUMAN |
| Description: | nibrin [Source:HGNC Symbol;Acc:7652] |
| Location: | chr8 q21.3 |
| Node attribute: | substrate |
| Phosphorylation site |
| Position | PhosphoPeptide | Catalytic kinase | Source |
|---|---|---|---|
| S341 | TTPGPsLSQGV | PhosphoSitePlus; HPRD | |
| Y429 | MRIPNyQLSPT | PhosphoSitePlus; HPRD; SysPTM | |
| S442 | PSINKsKDRAS | PhosphoSitePlus; HPRD | |
| T434 | YQLSPtKLPSI | PhosphoSitePlus; HPRD; phosphoELM | |
| T60 | TNLSQtDEIPV | FHA | PhosphoSitePlus |
| S615 | ESSKIsQENEI | PhosphoSitePlus; HPRD; phosphoELM; RegPhos | |
| S278 | TGITNsQTLIP | ATM | HPRD; phosphoELM; RegPhos |
| T497 | QTQPAtPSLWK | PhosphoSitePlus; HPRD | |
| S278 | TGITNsQTLIP | PhosphoSitePlus | |
| T485 | SARIEtSCSLL | HPRD | |
| S604 | TNDTFsDEAVP | PhosphoSitePlus; HPRD | |
| S58 | SVTNLsQTDEI | HPRD | |
| S611 | EAVPEsSKISQ | PhosphoSitePlus | |
| S343 | PGPSLsQGVSV | ATM | HPRD; phosphoELM; RegPhos |
| T516 | NEPVDtNSDNN | PhosphoSitePlus | |
| T493 | SLLEQtQPATP | HPRD | |
| S612 | AVPESsKISQE | PhosphoSitePlus | |
| S397 | KFRMLsQDAPT | ATM | HPRD; phosphoELM; RegPhos; SysPTM |
| S488 | IETSCsLLEQT | PhosphoSitePlus; HPRD | |
| T60 | TNLSQtDEIPV | HPRD | |
| S58 | SVTNLsQTDEI | FHA | PhosphoSitePlus |
| Y16 | AGGEPyRLLTG | PhosphoSitePlus | |
| S499 | QPATPsLWKNK | HPRD | |
| T337 | GLKTTtPGPSL | PhosphoSitePlus; HPRD | |
| S706 | HIIGGsDLIAH | Nbs1_C | PhosphoSitePlus |
| S292 | KKWIQsIMDML | PhosphoSitePlus | |
| S438 | PTKLPsINKSK | PhosphoSitePlus; HPRD | |
| S347 | LSQGVsVDEKL | PhosphoSitePlus | |
| Y693 | FKKVTyPGAGK | Nbs1_C | PhosphoSitePlus |
| T335 | STGLKtTTPGP | PhosphoSitePlus | |
| T602 | IETNDtFSDEA | HPRD | |
| T402 | SQDAPtVKESC | PhosphoSitePlus; HPRD | |
| S509 | KEQHLsENEPV | PhosphoSitePlus | |
| S195 | PPQIEsFYPPL | PhosphoSitePlus | |
| S661 | LTEFRsLVIKN | HPRD | |
| Y197 | QIESFyPPLDE | PhosphoSitePlus | |
| S343 | PGPSLsQGVSV | PhosphoSitePlus; phosphoELM | |
| T336 | TGLKTtTPGPS | HPRD | |
| S397 | KFRMLsQDAPT | PhosphoSitePlus; phosphoELM; RegPhos; SysPTM | |
| S432 | PNYQLsPTKLP | PhosphoSitePlus; HPRD; phosphoELM; RegPhos; SysPTM | |
| Dephosphorylation site |
| NBN_HUMAN do not have dephosphorylation site. |
| Mutation site |
| Ensembl ID | Variation | Source | Cancer name | Pubmed |
|---|---|---|---|---|
| ENSP00000265433 | D95N | HPI | acute lymphocytic leukemia | 11325820 16702373 | ENSP00000265433 | L150F | HPI | Breast Cancer | 14684699 16474176 | ENSP00000265433 | Y679H | COSMIC | Renal Cancer | 21248752 | ENSP00000265433 | R17T | COSMIC | Head and Neck Cancer | 21798893 | ENSP00000265433 | T485M | COSMIC | Head and Neck Cancer | 21798893 | ENSP00000265433 | I171V | HPI | acute lymphocytic leukemia | 11325820 15338273 22131123 21436738 19523210 19813148 18280732 18606567 19452044 18049891 17894553 17899368 16810201 17695489 | ENSP00000265433 | E512G | COSMIC | Lung Cancer | 20668451 | ENSP00000265433 | L377F | COSMIC | Head and Neck Cancer | 21798893 | ENSP00000265433 | I171V | OMIM | Leukemia | 11325820 | ENSP00000265433 | P748S | COSMIC | Central Nervous System Neoplasms | 18772890 | ENSP00000265433 | S93L | HPI | acute lymphocytic leukemia | 11325820 | ENSP00000265433 | N731fs*20 | COSMIC | Renal Cancer | 20054297 |
| Differential expressed protein |
| NBN_HUMAN is not differential expressed protein. |
| Hyperphosphorylation site |
| Site | Motif | Peptide | Cancer name | Pubmed | Source |
|---|---|---|---|---|---|
| S343 | TTPGPSLsQGVSVDE | RIDDLE syndrome | 17940005 | PhosphoSitePlus | |
| Direct Interaction Pair |
| Source | Target | Relationship | Resource |
|---|---|---|---|
| ZAGL2_HUMAN | NBN_HUMAN | kinase -> substrate | RegPhos |
| ATM_HUMAN | NBN_HUMAN | kinase -> substrate | RegPhos |
| Function Annotation |
| KEGG Pathway |
| KEGG ID | Pathway |
|---|---|
| hsa03440 | Homologous recombination |
| Gene Ontology |
| GO ID | GO_Term | Evidence | Ontology |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | molecular_function |
| GO:0042405 | nuclear inclusion body | IDA | cellular_component |
| GO:0007126 | meiosis | IEA | biological_process |
| GO:0005657 | replication fork | IEA | cellular_component |
| GO:0031954 | positive regulation of protein autophosphorylation | IDA | biological_process |
| GO:0001701 | in utero embryonic development | IEA | biological_process |
| GO:0006915 | apoptotic process | IEA | biological_process |
| GO:0050885 | neuromuscular process controlling balance | IEA | biological_process |
| GO:0000784 | nuclear chromosome, telomeric region | IDA | cellular_component |
| GO:0005654 | nucleoplasm | TAS | cellular_component |
| GO:0003684 | damaged DNA binding | IEA | molecular_function |
| GO:0000724 | double-strand break repair via homologous recombin | TAS | biological_process |
| GO:0030330 | DNA damage response, signal transduction by p53 cl | TAS | biological_process |
| GO:0033674 | positive regulation of kinase activity | IDA | biological_process |
| GO:0000723 | telomere maintenance | IMP | biological_process |
| GO:0030870 | Mre11 complex | IDA | cellular_component |
| GO:0007050 | cell cycle arrest | TAS | biological_process |
| GO:0031576 | G2/M transition checkpoint | IEA | biological_process |
| GO:0005730 | nucleolus | IDA | cellular_component |
| GO:0001832 | blastocyst growth | IEA | biological_process |
| GO:0008283 | cell proliferation | IEA | biological_process |
| GO:0008134 | transcription factor binding | IPI | molecular_function |
| GO:0032508 | DNA duplex unwinding | IMP | biological_process |
| GO:0006281 | DNA repair | TAS | biological_process |
| GO:0045190 | isotype switching | IEA | biological_process |
| GO:0000077 | DNA damage checkpoint | IDA | biological_process |
| GO:0006302 | double-strand break repair | IDA | biological_process |
| GO:0005634 | nucleus | IEA | cellular_component |
| GO:0007095 | mitotic cell cycle G2/M transition DNA damage chec | IDA | biological_process |
| GO:0030174 | regulation of DNA-dependent DNA replication initia | TAS | biological_process |
| GO:0004003 | ATP-dependent DNA helicase activity | IMP | molecular_function |
| GO:0031575 | mitotic cell cycle G1/S transition checkpoint | IDA | biological_process |
| GO:0047485 | protein N-terminus binding | IPI | molecular_function |