Details for: NBN

Gene ID: 4683

Symbol: NBN

Ensembl ID: ENSG00000104320

Description: nibrin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 181.6835
    Cell Significance Index: -28.2600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 99.7858
    Cell Significance Index: -25.3100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 69.1471
    Cell Significance Index: -28.4900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 64.4006
    Cell Significance Index: -30.4100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 64.0112
    Cell Significance Index: -26.0100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 56.7474
    Cell Significance Index: -29.1900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 45.4679
    Cell Significance Index: -30.5100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 27.5153
    Cell Significance Index: -26.2700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 24.8752
    Cell Significance Index: -30.6700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 10.3253
    Cell Significance Index: -27.6600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.6767
    Cell Significance Index: -26.6500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.8737
    Cell Significance Index: -31.0700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.4379
    Cell Significance Index: -14.0900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.4673
    Cell Significance Index: 294.3400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.1323
    Cell Significance Index: 58.9800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.0045
    Cell Significance Index: 44.4300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9744
    Cell Significance Index: 158.4800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.9710
    Cell Significance Index: 36.7700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9425
    Cell Significance Index: 169.9000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.9111
    Cell Significance Index: 8.3900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.8454
    Cell Significance Index: 16.5000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.8359
    Cell Significance Index: 97.4200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.7973
    Cell Significance Index: 41.4200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.7494
    Cell Significance Index: 92.1500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.7369
    Cell Significance Index: 34.3600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6985
    Cell Significance Index: 9.5300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6522
    Cell Significance Index: 89.5600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6159
    Cell Significance Index: 60.9300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5729
    Cell Significance Index: 113.6900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5399
    Cell Significance Index: 193.6700
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.5324
    Cell Significance Index: 12.3000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.5283
    Cell Significance Index: 35.5300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4967
    Cell Significance Index: 34.3500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4954
    Cell Significance Index: 58.4200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.4861
    Cell Significance Index: 27.2800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4525
    Cell Significance Index: 247.1000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.3820
    Cell Significance Index: 7.0600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3015
    Cell Significance Index: 19.4500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3015
    Cell Significance Index: 133.2900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2886
    Cell Significance Index: 22.1500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2875
    Cell Significance Index: 54.7100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2793
    Cell Significance Index: 19.7500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2668
    Cell Significance Index: 5.7800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2602
    Cell Significance Index: 234.9200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.2449
    Cell Significance Index: 7.0200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2420
    Cell Significance Index: 6.4900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2334
    Cell Significance Index: 10.9700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2131
    Cell Significance Index: 27.3200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.1687
    Cell Significance Index: 4.8200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0930
    Cell Significance Index: 2.6800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0817
    Cell Significance Index: 5.0200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0732
    Cell Significance Index: 1.5700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0623
    Cell Significance Index: 95.8700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0529
    Cell Significance Index: 2.4000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0342
    Cell Significance Index: 63.0800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0234
    Cell Significance Index: 0.6300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0162
    Cell Significance Index: 11.8800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0160
    Cell Significance Index: 0.8400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0128
    Cell Significance Index: 24.0500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0082
    Cell Significance Index: 5.2100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0032
    Cell Significance Index: -4.3700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0132
    Cell Significance Index: -6.0000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0169
    Cell Significance Index: -12.7800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0193
    Cell Significance Index: -0.5200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0309
    Cell Significance Index: -3.1600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0349
    Cell Significance Index: -4.5100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0393
    Cell Significance Index: -29.1300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0469
    Cell Significance Index: -1.3100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0484
    Cell Significance Index: -8.2600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0497
    Cell Significance Index: -3.1300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0512
    Cell Significance Index: -28.8900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0550
    Cell Significance Index: -34.3300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0725
    Cell Significance Index: -5.4000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0771
    Cell Significance Index: -1.2900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0890
    Cell Significance Index: -25.6100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1065
    Cell Significance Index: -3.4100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1099
    Cell Significance Index: -2.3400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1120
    Cell Significance Index: -1.9200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1130
    Cell Significance Index: -16.4300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1160
    Cell Significance Index: -2.5400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1517
    Cell Significance Index: -5.3300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1552
    Cell Significance Index: -17.7800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1618
    Cell Significance Index: -4.2600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1650
    Cell Significance Index: -34.7500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2463
    Cell Significance Index: -6.3300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2553
    Cell Significance Index: -20.2200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2656
    Cell Significance Index: -7.2300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2701
    Cell Significance Index: -28.1200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3148
    Cell Significance Index: -10.9400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.3269
    Cell Significance Index: -7.8400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.3644
    Cell Significance Index: -18.4200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3681
    Cell Significance Index: -9.4100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3919
    Cell Significance Index: -11.5100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4244
    Cell Significance Index: -10.6100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4470
    Cell Significance Index: -6.6000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4923
    Cell Significance Index: -30.1800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.5633
    Cell Significance Index: -11.7900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.5738
    Cell Significance Index: -4.8200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.5957
    Cell Significance Index: -10.0400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.6530
    Cell Significance Index: -6.7600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** NBN is a human gene that encodes a protein essential for the repair of DNA double-strand breaks (DSBs) through homologous recombination. The NBN protein is a component of the Mre11-Rad50-Nbs1 (MRN) complex, which recognizes and processes DSBs. NBN is also involved in the regulation of cell cycle checkpoints, DNA damage response, and telomere maintenance. **Pathways and Functions:** NBN is involved in various cellular pathways, including: 1. **Homologous Recombination Repair (HRR):** NBN is a key component of the MRN complex, which recognizes and processes DSBs through HRR. 2. **DNA Damage Response:** NBN plays a crucial role in the DNA damage response pathway, regulating the activation of checkpoints and the recruitment of repair proteins. 3. **Telomere Maintenance:** NBN is involved in the regulation of telomere length and stability, preventing telomere shortening and fusions. 4. **Cell Cycle Regulation:** NBN regulates the cell cycle, ensuring that cells with damaged DNA are arrested and repaired before proceeding to mitosis. **Clinical Significance:** Mutations in the NBN gene have been associated with various genetic disorders and cancers, including: 1. **Ataxia-Telangiectasia:** A rare genetic disorder characterized by progressive neurological decline, immunodeficiency, and increased cancer risk. 2. **Bloom Syndrome:** A rare genetic disorder characterized by short stature, growth delay, and increased cancer risk. 3. **Breast Cancer:** Mutations in NBN have been identified in breast cancer patients, highlighting its role in maintaining genome stability. 4. **Other Cancers:** NBN mutations have also been implicated in other cancers, including ovarian, lung, and colon cancer. In conclusion, the NBN gene plays a critical role in maintaining genome stability through its involvement in HRR, DNA damage response, and telomere maintenance pathways. Mutations in the NBN gene have significant clinical implications, highlighting the importance of this gene in preventing genetic instability and cancer. Further research is needed to fully elucidate the role of NBN in maintaining genome stability and to develop effective therapeutic strategies for genetic disorders and cancers associated with NBN mutations.

Genular Protein ID: 3251719241

Symbol: NBN_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9590180

Title: Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.

PubMed ID: 9590180

DOI: 10.1016/s0092-8674(00)81174-5

PubMed ID: 9590181

Title: The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response.

PubMed ID: 9590181

DOI: 10.1016/s0092-8674(00)81175-7

PubMed ID: 9620777

Title: Positional cloning of the gene for Nijmegen breakage syndrome.

PubMed ID: 9620777

DOI: 10.1038/549

PubMed ID: 9933573

Title: Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the Nijmegen breakage syndrome gene, NBS1.

PubMed ID: 9933573

DOI: 10.1006/geno.1998.5657

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 9705271

Title: Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95.

PubMed ID: 9705271

DOI: 10.1074/jbc.273.34.21447

PubMed ID: 10783165

Title: BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.

PubMed ID: 10783165

PubMed ID: 10802669

Title: ATM-dependent phosphorylation of nibrin in response to radiation exposure.

PubMed ID: 10802669

DOI: 10.1038/75508

PubMed ID: 10839544

Title: Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products.

PubMed ID: 10839544

DOI: 10.1038/35013083

PubMed ID: 10766245

Title: ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway.

PubMed ID: 10766245

DOI: 10.1038/35007091

PubMed ID: 10839545

Title: ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response.

PubMed ID: 10839545

DOI: 10.1038/35013089

PubMed ID: 10888888

Title: Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres.

PubMed ID: 10888888

DOI: 10.1038/77139

PubMed ID: 11238951

Title: Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization.

PubMed ID: 11238951

DOI: 10.1128/mcb.21.6.2184-2191.2001

PubMed ID: 12470659

Title: Recruitment of NBS1 into PML oncogenic domains via interaction with SP100 protein.

PubMed ID: 12470659

DOI: 10.1016/s0006-291x(02)02755-9

PubMed ID: 12419185

Title: NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain.

PubMed ID: 12419185

DOI: 10.1016/s0960-9822(02)01259-9

PubMed ID: 15064416

Title: Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complex.

PubMed ID: 15064416

DOI: 10.1126/science.1091496

PubMed ID: 16188882

Title: Importin KPNA2 is required for proper nuclear localization and multiple functions of NBS1.

PubMed ID: 16188882

DOI: 10.1074/jbc.m508425200

PubMed ID: 15916964

Title: ATM-dependent phosphorylation of ATF2 is required for the DNA damage response.

PubMed ID: 15916964

DOI: 10.1016/j.molcel.2005.04.015

PubMed ID: 15758953

Title: Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage.

PubMed ID: 15758953

DOI: 10.1038/nature03442

PubMed ID: 15616588

Title: Nbs1 is required for ATR-dependent phosphorylation events.

PubMed ID: 15616588

DOI: 10.1038/sj.emboj.7600504

PubMed ID: 15790808

Title: ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex.

PubMed ID: 15790808

DOI: 10.1126/science.1108297

PubMed ID: 16467875

Title: The role of NBS1 in DNA double strand break repair, telomere stability, and cell cycle checkpoint control.

PubMed ID: 16467875

DOI: 10.1038/sj.cr.7310007

PubMed ID: 16622404

Title: Two-step activation of ATM by DNA and the Mre11-Rad50-Nbs1 complex.

PubMed ID: 16622404

DOI: 10.1038/nsmb1090

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 17823411

Title: Activation of Holliday junction recognizing protein involved in the chromosomal stability and immortality of cancer cells.

PubMed ID: 17823411

DOI: 10.1158/0008-5472.can-07-1307

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18583988

Title: Phospho-dependent interactions between NBS1 and MDC1 mediate chromatin retention of the MRN complex at sites of DNA damage.

PubMed ID: 18583988

DOI: 10.1038/embor.2008.103

PubMed ID: 18411307

Title: Phosphorylation of SDT repeats in the MDC1 N terminus triggers retention of NBS1 at the DNA damage-modified chromatin.

PubMed ID: 18411307

DOI: 10.1083/jcb.200708210

PubMed ID: 18582474

Title: Structure of a second BRCT domain identified in the nijmegen breakage syndrome protein Nbs1 and its function in an MDC1-dependent localization of Nbs1 to DNA damage sites.

PubMed ID: 18582474

DOI: 10.1016/j.jmb.2008.05.087

PubMed ID: 18678890

Title: MDC1 regulates intra-S-phase checkpoint by targeting NBS1 to DNA double-strand breaks.

PubMed ID: 18678890

DOI: 10.1073/pnas.0802885105

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19338747

Title: Histone H2AX participates the DNA damage-induced ATM activation through interaction with NBS1.

PubMed ID: 19338747

DOI: 10.1016/j.bbrc.2009.01.109

PubMed ID: 19804756

Title: A supramodular FHA/BRCT-repeat architecture mediates Nbs1 adaptor function in response to DNA damage.

PubMed ID: 19804756

DOI: 10.1016/j.cell.2009.07.043

PubMed ID: 19759395

Title: N terminus of CtIP is critical for homologous recombination-mediated double-strand break repair.

PubMed ID: 19759395

DOI: 10.1074/jbc.m109.023424

PubMed ID: 19683501

Title: SOSS complexes participate in the maintenance of genomic stability.

PubMed ID: 19683501

DOI: 10.1016/j.molcel.2009.06.011

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20943970

Title: Physical interaction between the herpes simplex virus type 1 exonuclease, UL12, and the DNA double-strand break-sensing MRN complex.

PubMed ID: 20943970

DOI: 10.1128/jvi.01506-10

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23115235

Title: The RING finger protein RNF8 ubiquitinates Nbs1 to promote DNA double-strand break repair by homologous recombination.

PubMed ID: 23115235

DOI: 10.1074/jbc.m112.421545

PubMed ID: 22464731

Title: Skp2 E3 ligase integrates ATM activation and homologous recombination repair by ubiquitinating NBS1.

PubMed ID: 22464731

DOI: 10.1016/j.molcel.2012.02.018

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23762398

Title: Interaction between NBS1 and the mTOR/Rictor/SIN1 complex through specific domains.

PubMed ID: 23762398

DOI: 10.1371/journal.pone.0065586

PubMed ID: 24534091

Title: Rad17 recruits the MRE11-RAD50-NBS1 complex to regulate the cellular response to DNA double-strand breaks.

PubMed ID: 24534091

DOI: 10.1002/embj.201386064

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26438602

Title: Acetylation of histone H2AX at Lys 5 by the TIP60 histone acetyltransferase complex is essential for the dynamic binding of NBS1 to damaged chromatin.

PubMed ID: 26438602

DOI: 10.1128/mcb.00757-15

PubMed ID: 26215093

Title: MCM8-9 complex promotes resection of double-strand break ends by MRE11-RAD50-NBS1 complex.

PubMed ID: 26215093

DOI: 10.1038/ncomms8744

PubMed ID: 27568553

Title: MRNIP/C5orf45 interacts with the MRN complex and contributes to the DNA damage response.

PubMed ID: 27568553

DOI: 10.1016/j.celrep.2016.07.087

PubMed ID: 27814491

Title: Nbs1 converts the human Mre11/Rad50 nuclease complex into an endo/exonuclease machine specific for protein-DNA adducts.

PubMed ID: 27814491

DOI: 10.1016/j.molcel.2016.10.010

PubMed ID: 27889449

Title: Phosphorylated CtIP functions as a co-factor of the MRE11-RAD50-NBS1 endonuclease in DNA end resection.

PubMed ID: 27889449

DOI: 10.1016/j.molcel.2016.10.017

PubMed ID: 28867292

Title: Single-molecule imaging reveals how Mre11-Rad50-Nbs1 initiates DNA break repair.

PubMed ID: 28867292

DOI: 10.1016/j.molcel.2017.08.002

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 30886146

Title: UFL1 promotes histone H4 ufmylation and ATM activation.

PubMed ID: 30886146

DOI: 10.1038/s41467-019-09175-0

PubMed ID: 30787182

Title: NBS1 promotes the endonuclease activity of the MRE11-RAD50 complex by sensing CtIP phosphorylation.

PubMed ID: 30787182

DOI: 10.15252/embj.2018101005

PubMed ID: 30952868

Title: Pellino1 regulates reversible ATM activation via NBS1 ubiquitination at DNA double-strand breaks.

PubMed ID: 30952868

DOI: 10.1038/s41467-019-09641-9

PubMed ID: 31537797

Title: MRE11-RAD50-NBS1 promotes Fanconi Anemia R-loop suppression at transcription-replication conflicts.

PubMed ID: 31537797

DOI: 10.1038/s41467-019-12271-w

PubMed ID: 33836577

Title: A conserved Ctp1/CtIP C-terminal peptide stimulates Mre11 endonuclease activity.

PubMed ID: 33836577

DOI: 10.1073/pnas.2016287118

PubMed ID: 28216226

Title: NBS1 phosphorylation status dictates repair choice of dysfunctional telomeres.

PubMed ID: 28216226

DOI: 10.1016/j.molcel.2017.01.016

PubMed ID: 35076389

Title: Structure of the human ATM kinase and mechanism of Nbs1 binding.

PubMed ID: 35076389

DOI: 10.7554/elife.74218

PubMed ID: 36577401

Title: Cryo-EM structure of the Mre11-Rad50-Nbs1 complex reveals the molecular mechanism of scaffolding functions.

PubMed ID: 36577401

DOI: 10.1016/j.molcel.2022.12.003

PubMed ID: 11325820

Title: Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).

PubMed ID: 11325820

PubMed ID: 14684699

Title: Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.

PubMed ID: 14684699

DOI: 10.1136/jmg.40.12.e131

PubMed ID: 14688016

Title: Polymorphisms in DNA repair and metabolic genes in bladder cancer.

PubMed ID: 14688016

DOI: 10.1093/carcin/bgh058

PubMed ID: 15338273

Title: First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.

PubMed ID: 15338273

DOI: 10.1007/s00439-004-1155-1

PubMed ID: 21248752

Title: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.

PubMed ID: 21248752

DOI: 10.1038/nature09639

Sequence Information:

  • Length: 754
  • Mass: 84959
  • Checksum: CD602F09BA73DAB6
  • Sequence:
  • MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT 
    DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL 
    DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF 
    LKAVESKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS 
    AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ 
    GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT 
    TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT 
    LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS 
    ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH 
    AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN 
    DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR 
    SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE 
    EWLRQEMEVQ NQHAKEESLA DDLFRYNPYL KRRR

Genular Protein ID: 4101678250

Symbol: A0A0C4DG07_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

Sequence Information:

  • Length: 672
  • Mass: 75969
  • Checksum: 261AFBB31A0D3030
  • Sequence:
  • MQNGFSRTLK SGDGITFGVF GSKFRIEYEP LVACSSCLDV SGKTALNQAI LQLGGFTVNN 
    WTEECTHLVM VSVKVTIKTI CALICGRPIV KPEYFTEFLK AVESKKQPPQ IESFYPPLDE 
    PSIGSKNVDL SGRQERKQIF KGKTFIFLNA KQHKKLSSAV VFGGGEARLI TEENEEEHNF 
    FLAPGTCVVD TGITNSQTLI PDCQKKWIQS IMDMLQRQGL RPIPEAEIGL AVIFMTTKNY 
    CDPQGHPSTG LKTTTPGPSL SQGVSVDEKL MPSAPVNTTT YVADTESEQA DTWDLSERPK 
    EIKVSKMEQK FRMLSQDAPT VKESCKTSSN NNSMVSNTLA KMRIPNYQLS PTKLPSINKS 
    KDRASQQQQT NSIRNYFQPS TKKRERDEEN QEMSSCKSAR IETSCSLLEQ TQPATPSLWK 
    NKEQHLSENE PVDTNSDNNL FTDTDLKSIV KNSASKSHAA EKLRSNKKRE MDDVAIEDEV 
    LEQLFKDTKP ELEIDVKVQK QEEDVNVRKR PRMDIETNDT FSDEAVPESS KISQENEIGK 
    KRELKEDSLW SAKEISNNDK LQDDSEMLPK KLLLTEFRSL VIKNSTSRNP SGINDDYGQL 
    KNFKKFKKVT YPGAGKLPHI IGGSDLIAHH ARKNTELEEW LRQEMEVQNQ HAKEESLADD 
    LFRYNPYLKR RR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.