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O60934

- NBN_HUMAN

UniProt

O60934 - NBN_HUMAN

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Protein

Nibrin

Gene
NBN, NBS, NBS1, P95
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by generating the 3' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major player in the control of intra-S-phase checkpoint and there is some evidence that NBN is involved in G1 and G2 checkpoints. The roles of NBS1/MRN encompass DNA damage sensor, signal transducer, and effector, which enable cells to maintain DNA integrity and genomic stability. Forms a complex with RBBP8 to link DNA double-strand break sensing to resection. Enhances AKT1 phosphorylation possibly by association with the mTORC2 complex.5 Publications

GO - Molecular functioni

  1. damaged DNA binding Source: Ensembl
  2. protein binding Source: UniProtKB
  3. protein N-terminus binding Source: UniProtKB
  4. transcription factor binding Source: UniProtKB

GO - Biological processi

  1. blastocyst growth Source: Ensembl
  2. cell cycle arrest Source: UniProtKB
  3. cell proliferation Source: Ensembl
  4. DNA damage checkpoint Source: MGI
  5. DNA damage response, signal transduction by p53 class mediator Source: UniProtKB
  6. DNA duplex unwinding Source: BHF-UCL
  7. DNA repair Source: Reactome
  8. double-strand break repair Source: UniProtKB
  9. double-strand break repair via homologous recombination Source: Reactome
  10. intrinsic apoptotic signaling pathway Source: Ensembl
  11. isotype switching Source: Ensembl
  12. meiotic nuclear division Source: UniProtKB-KW
  13. mitotic cell cycle checkpoint Source: UniProtKB
  14. mitotic G2 DNA damage checkpoint Source: UniProtKB
  15. neuromuscular process controlling balance Source: Ensembl
  16. positive regulation of kinase activity Source: BHF-UCL
  17. positive regulation of protein autophosphorylation Source: BHF-UCL
  18. regulation of DNA-dependent DNA replication initiation Source: UniProtKB
  19. telomere maintenance Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell cycle, DNA damage, DNA repair, Meiosis

Enzyme and pathway databases

ReactomeiREACT_169185. DNA Damage/Telomere Stress Induced Senescence.
REACT_1884. MRN complex relocalizes to nuclear foci.
REACT_1924. ATM mediated phosphorylation of repair proteins.
REACT_27271. Meiotic recombination.
REACT_486. Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks.

Names & Taxonomyi

Protein namesi
Recommended name:
Nibrin
Alternative name(s):
Cell cycle regulatory protein p95
Nijmegen breakage syndrome protein 1
Gene namesi
Name:NBN
Synonyms:NBS, NBS1, P95
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:7652. NBN.

Subcellular locationi

Nucleus By similarity. NucleusPML body. Chromosometelomere By similarity
Note: Localizes to discrete nuclear foci after treatment with genotoxic agents By similarity.2 Publications

GO - Cellular componenti

  1. Mre11 complex Source: UniProtKB
  2. nuclear chromosome, telomeric region Source: BHF-UCL
  3. nuclear inclusion body Source: UniProtKB
  4. nucleolus Source: BHF-UCL
  5. nucleoplasm Source: Reactome
  6. nucleus Source: BHF-UCL
  7. PML body Source: UniProtKB
  8. replication fork Source: Ensembl
  9. site of double-strand break Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus, Telomere

Pathology & Biotechi

Involvement in diseasei

Nijmegen breakage syndrome (NBS) [MIM:251260]: A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti150 – 1501L → F in BC. 1 Publication
VAR_025795
Aplastic anemia (AA) [MIM:609135]: A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia.
Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Defects in NBN might play a role in the pathogenesis of childhood acute lymphoblastic leukemia (ALL).

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi28 – 281R → A: Disrupts nuclear foci formation and block phosphorylation in response to ionizing radiation. 2 Publications
Mutagenesisi45 – 451H → A: Disrupts nuclear foci formation and block phosphorylation in response to ionizing radiation. 2 Publications
Mutagenesisi136 – 1372GG → EE: Disrupts nuclear foci formation and block phosphorylation in response to ionizing radiation. 1 Publication
Mutagenesisi176 – 1761Y → A: Disrupts nuclear foci formation and block phosphorylation in response to ionizing radiation. 2 Publications
Mutagenesisi343 – 3431S → A: Abrogates ATM-dependent phosphorylation. 2 Publications
Mutagenesisi397 – 3971S → A: Abrogates ATM-dependent phosphorylation. No loss of interaction with KPNA2. 3 Publications
Mutagenesisi465 – 4662KR → AA: Blocks the association with KPNA2, and reduces nuclear foci formation in response to ionizing radiation. 1 Publication
Mutagenesisi583 – 5831Q → K: No loss of interaction with KPNA2. 2 Publications
Mutagenesisi615 – 6151S → A: Abrogates ATM-dependent phosphorylation. 2 Publications
Mutagenesisi736 – 7372EE → AA: Decreases ATM binding. 1 Publication
Mutagenesisi741 – 7422DD → AA: Decreases ATM binding. 1 Publication
Mutagenesisi745 – 7462RY → AA: Decreases ATM binding. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi114480. phenotype.
251260. phenotype.
609135. phenotype.
Orphaneti1331. Familial prostate cancer.
145. Hereditary breast and ovarian cancer syndrome.
647. Nijmegen breakage syndrome.
PharmGKBiPA31457.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 754754NibrinPRO_0000231043Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei278 – 2781Phosphoserine; by ATM1 Publication
Modified residuei343 – 3431Phosphoserine; by ATM2 Publications
Modified residuei397 – 3971Phosphoserine4 Publications
Modified residuei402 – 4021Phosphothreonine1 Publication
Modified residuei432 – 4321Phosphoserine3 Publications
Modified residuei615 – 6151Phosphoserine1 Publication

Post-translational modificationi

Phosphorylated by ATM in response of ionizing radiation, and such phosphorylation is responsible intra-S phase checkpoint control and telomere maintenance.3 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO60934.
PaxDbiO60934.
PRIDEiO60934.

PTM databases

PhosphoSiteiO60934.

Expressioni

Tissue specificityi

Ubiquitous. Expressed at high levels in testis.

Inductioni

Up-regulated by ionizing radiation (IR).1 Publication

Gene expression databases

ArrayExpressiO60934.
BgeeiO60934.
CleanExiHS_NBN.
GenevestigatoriO60934.

Organism-specific databases

HPAiCAB003836.
HPA001429.

Interactioni

Subunit structurei

Component of the MRN complex composed of two heterodimers RAD50/MRE11A associated with a single NBN. Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50 and MRE11A. Interacts with histone H2AFX this requires phosphorylation of H2AFX on 'Ser-139'. Interacts with HJURP, INTS3, KPNA2 and TERF2. Interacts with RBBP8; the interaction links the role of the MRN complex in DNA double-strand break sensing to resection. Interacts with SP100; recruits NBN to PML bodies. Interacts with ATF2. Interacts with MTOR, MAPKAP1 isoform 2 and RICTOR; indicative for an association with the mTORC2 complex.12 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
EP300Q094725EBI-494844,EBI-447295
FANCD2Q9BXW96EBI-494844,EBI-359343
H2AFXP1610412EBI-494844,EBI-494830
MDC1Q1467626EBI-494844,EBI-495644
MRE11AP499592EBI-494844,EBI-396513
SIRT1Q96EB65EBI-494844,EBI-1802965

Protein-protein interaction databases

BioGridi110763. 58 interactions.
DIPiDIP-33605N.
IntActiO60934. 17 interactions.
MINTiMINT-203482.
STRINGi9606.ENSP00000265433.

Structurei

3D structure databases

ProteinModelPortaliO60934.
SMRiO60934. Positions 8-109, 217-326.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini24 – 8360FHAAdd
BLAST
Domaini105 – 18177BRCTAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni111 – 328218Mediates interaction with SP100 By similarityAdd
BLAST
Regioni221 – 402182Interaction with MTOR, MAPKAP1 and RICTORAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi461 – 4677Nuclear localization signal
Motifi736 – 7438EEXXXDDL motif

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi448 – 4514Poly-Gln

Domaini

The FHA and BRCT domains are likely to have a crucial role for both binding to histone H2AFX and for relocalization of MRE11/RAD50 complex to the vicinity of DNA damage.1 Publication
The C-terminal domain contains a MRE11-binding site, and this interaction is required for the nuclear localization of the MRN complex.1 Publication
The EEXXXDDL motif at the C-terminus is required for the interaction with ATM and its recruitment to sites of DNA damage and promote the phosphorylation of ATM substrates, leading to the events of DNA damage response.1 Publication

Sequence similaritiesi

Contains 1 BRCT domain.
Contains 1 FHA domain.

Phylogenomic databases

eggNOGiNOG84999.
HOVERGENiHBG053070.
InParanoidiO60934.
KOiK10867.
OMAiKLPHIIG.
OrthoDBiEOG7B5WV7.
PhylomeDBiO60934.
TreeFamiTF101103.

Family and domain databases

Gene3Di2.60.200.20. 1 hit.
3.40.50.10190. 1 hit.
InterProiIPR001357. BRCT_dom.
IPR013908. DNA-repair_Nbs1_C.
IPR000253. FHA_dom.
IPR016592. Nibrin_met.
IPR008984. SMAD_FHA_domain.
[Graphical view]
PfamiPF00498. FHA. 1 hit.
PF08599. Nbs1_C. 1 hit.
[Graphical view]
PIRSFiPIRSF011869. Nibrin_animal. 1 hit.
SMARTiSM00292. BRCT. 1 hit.
SM00240. FHA. 1 hit.
[Graphical view]
SUPFAMiSSF49879. SSF49879. 1 hit.
SSF52113. SSF52113. 1 hit.
PROSITEiPS50006. FHA_DOMAIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O60934-1 [UniParc]FASTAAdd to Basket

« Hide

MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA    50
NFSVTNLSQT DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG 100
VFGSKFRIEY EPLVACSSCL DVSGKTALNQ AILQLGGFTV NNWTEECTHL 150
VMVSVKVTIK TICALICGRP IVKPEYFTEF LKAVESKKQP PQIESFYPPL 200
DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS AVVFGGGEAR 250
LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ 300
GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE 350
KLMPSAPVNT TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA 400
PTVKESCKTS SNNNSMVSNT LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ 450
QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS ARIETSCSLL EQTQPATPSL 500
WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH AAEKLRSNKK 550
REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN 600
DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML 650
PKKLLLTEFR SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP 700
HIIGGSDLIA HHARKNTELE EWLRQEMEVQ NQHAKEESLA DDLFRYNPYL 750
KRRR 754
Length:754
Mass (Da):84,959
Last modified:August 1, 1998 - v1
Checksum:iCD602F09BA73DAB6
GO

Sequence cautioni

The sequence AAI08651.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence starting in position 550.
The sequence CAH56160.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti93 – 931S → L in some childhood acute lymphoblastic leukemia patients; uncertain pathological significance; rare variant. 1 Publication
Corresponds to variant rs12721593 [ dbSNP | Ensembl ].
VAR_025792
Natural varianti95 – 951D → N in some childhood acute lymphoblastic leukemia patients; uncertain pathological significance; rare variant. 1 Publication
Corresponds to variant rs61753720 [ dbSNP | Ensembl ].
VAR_025793
Natural varianti105 – 1051K → N.1 Publication
Corresponds to variant rs13312858 [ dbSNP | Ensembl ].
VAR_025794
Natural varianti142 – 1421N → S.
Corresponds to variant rs769414 [ dbSNP | Ensembl ].
VAR_051226
Natural varianti150 – 1501L → F in BC. 1 Publication
VAR_025795
Natural varianti171 – 1711I → V in some childhood acute lymphoblastic leukemia patients; uncertain pathological significance; rare variant; associated with aplastic anemia at homozygosity. 2 Publications
Corresponds to variant rs61754966 [ dbSNP | Ensembl ].
VAR_025796
Natural varianti185 – 1851E → Q.6 Publications
Corresponds to variant rs1805794 [ dbSNP | Ensembl ].
VAR_025797
Natural varianti210 – 2101V → F.1 Publication
Corresponds to variant rs61754796 [ dbSNP | Ensembl ].
VAR_025798
Natural varianti215 – 2151R → W.1 Publication
Corresponds to variant rs34767364 [ dbSNP | Ensembl ].
VAR_025799
Natural varianti216 – 2161Q → K.1 Publication
Corresponds to variant rs769416 [ dbSNP | Ensembl ].
VAR_025800
Natural varianti266 – 2661P → L.1 Publication
Corresponds to variant rs769420 [ dbSNP | Ensembl ].
VAR_025801
Natural varianti408 – 4081K → E.
Corresponds to variant rs34120922 [ dbSNP | Ensembl ].
VAR_051227
Natural varianti497 – 4971T → A.1 Publication
Corresponds to variant rs3026268 [ dbSNP | Ensembl ].
VAR_025802
Natural varianti574 – 5741L → I.1 Publication
Corresponds to variant rs142334798 [ dbSNP | Ensembl ].
VAR_025803
Natural varianti679 – 6791Y → H Found in a renal cell carcinoma sample; somatic mutation. 1 Publication
VAR_064738

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti247 – 2471G → R in BAD96976. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF051334 mRNA. Translation: AAC39732.1.
AF058696 mRNA. Translation: AAC39752.1.
AB013139 Genomic DNA. Translation: BAA28616.1.
AF069291 Genomic DNA. Translation: AAC62232.1.
AK312410 mRNA. Translation: BAG35323.1.
AK223256 mRNA. Translation: BAD96976.1.
AY566246 Genomic DNA. Translation: AAS59158.1.
CH471060 Genomic DNA. Translation: EAW91660.1.
BC108650 mRNA. Translation: AAI08651.1. Sequence problems.
BC136802 mRNA. Translation: AAI36803.1.
BC136803 mRNA. Translation: AAI36804.1.
BX640816 mRNA. Translation: CAH56160.1. Different initiation.
CCDSiCCDS6249.1.
PIRiT00393.
RefSeqiNP_002476.2. NM_002485.4.
XP_005250980.1. XM_005250923.1.
UniGeneiHs.492208.

Genome annotation databases

EnsembliENST00000265433; ENSP00000265433; ENSG00000104320.
ENST00000409330; ENSP00000386924; ENSG00000104320.
GeneIDi4683.
KEGGihsa:4683.
UCSCiuc003yei.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF051334 mRNA. Translation: AAC39732.1 .
AF058696 mRNA. Translation: AAC39752.1 .
AB013139 Genomic DNA. Translation: BAA28616.1 .
AF069291 Genomic DNA. Translation: AAC62232.1 .
AK312410 mRNA. Translation: BAG35323.1 .
AK223256 mRNA. Translation: BAD96976.1 .
AY566246 Genomic DNA. Translation: AAS59158.1 .
CH471060 Genomic DNA. Translation: EAW91660.1 .
BC108650 mRNA. Translation: AAI08651.1 . Sequence problems.
BC136802 mRNA. Translation: AAI36803.1 .
BC136803 mRNA. Translation: AAI36804.1 .
BX640816 mRNA. Translation: CAH56160.1 . Different initiation.
CCDSi CCDS6249.1.
PIRi T00393.
RefSeqi NP_002476.2. NM_002485.4.
XP_005250980.1. XM_005250923.1.
UniGenei Hs.492208.

3D structure databases

ProteinModelPortali O60934.
SMRi O60934. Positions 8-109, 217-326.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110763. 58 interactions.
DIPi DIP-33605N.
IntActi O60934. 17 interactions.
MINTi MINT-203482.
STRINGi 9606.ENSP00000265433.

PTM databases

PhosphoSitei O60934.

Proteomic databases

MaxQBi O60934.
PaxDbi O60934.
PRIDEi O60934.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265433 ; ENSP00000265433 ; ENSG00000104320 .
ENST00000409330 ; ENSP00000386924 ; ENSG00000104320 .
GeneIDi 4683.
KEGGi hsa:4683.
UCSCi uc003yei.1. human.

Organism-specific databases

CTDi 4683.
GeneCardsi GC08M091015.
GeneReviewsi NBN.
HGNCi HGNC:7652. NBN.
HPAi CAB003836.
HPA001429.
MIMi 114480. phenotype.
251260. phenotype.
602667. gene.
609135. phenotype.
neXtProti NX_O60934.
Orphaneti 1331. Familial prostate cancer.
145. Hereditary breast and ovarian cancer syndrome.
647. Nijmegen breakage syndrome.
PharmGKBi PA31457.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG84999.
HOVERGENi HBG053070.
InParanoidi O60934.
KOi K10867.
OMAi KLPHIIG.
OrthoDBi EOG7B5WV7.
PhylomeDBi O60934.
TreeFami TF101103.

Enzyme and pathway databases

Reactomei REACT_169185. DNA Damage/Telomere Stress Induced Senescence.
REACT_1884. MRN complex relocalizes to nuclear foci.
REACT_1924. ATM mediated phosphorylation of repair proteins.
REACT_27271. Meiotic recombination.
REACT_486. Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks.

Miscellaneous databases

GeneWikii Nibrin.
GenomeRNAii 4683.
NextBioi 18054.
PROi O60934.
SOURCEi Search...

Gene expression databases

ArrayExpressi O60934.
Bgeei O60934.
CleanExi HS_NBN.
Genevestigatori O60934.

Family and domain databases

Gene3Di 2.60.200.20. 1 hit.
3.40.50.10190. 1 hit.
InterProi IPR001357. BRCT_dom.
IPR013908. DNA-repair_Nbs1_C.
IPR000253. FHA_dom.
IPR016592. Nibrin_met.
IPR008984. SMAD_FHA_domain.
[Graphical view ]
Pfami PF00498. FHA. 1 hit.
PF08599. Nbs1_C. 1 hit.
[Graphical view ]
PIRSFi PIRSF011869. Nibrin_animal. 1 hit.
SMARTi SM00292. BRCT. 1 hit.
SM00240. FHA. 1 hit.
[Graphical view ]
SUPFAMi SSF49879. SSF49879. 1 hit.
SSF52113. SSF52113. 1 hit.
PROSITEi PS50006. FHA_DOMAIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN NIJMEGEN BREAKAGE SYNDROME, VARIANT GLN-185.
  2. "The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response."
    Carney J.P., Maser R.S., Olivares H., Davis E.M., Le Beau M., Yates J.R. III, Hays L., Morgan W.F., Petrini J.H.J.
    Cell 93:477-486(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 189-209; 238-250; 289-299; 300-320; 335-351; 395-405; 409-423; 426-441; 457-465; 503-529; 552-568; 595-613; 625-635; 653-660; 671-683 AND 736-745, VARIANT GLN-185, INTERACTION WITH MRE11 AND RAD50.
  3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the Nijmegen breakage syndrome gene, NBS1."
    Tauchi H., Matsuura S., Isomura M., Kinjo T., Nakamura A., Sakamoto S., Kondo N., Endo S., Komatsu K., Nakamura Y.
    Genomics 55:242-247(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Fibroblast.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-185.
    Tissue: Brain.
  6. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Synovial cell.
  7. NIEHS SNPs program
    Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ASN-105; GLN-185; LYS-216; LEU-266 AND ALA-497.
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain, Skin and Testis.
  10. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 58-754.
    Tissue: Colon endothelium.
  11. "Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95."
    Trujillo K.M., Yuan S.-S.F., Lee E.Y.-H.P., Sung P.
    J. Biol. Chem. 273:21447-21450(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN DSB REPAIR, IDENTIFICATION IN THE MRN COMPLEX WITH MRE11A AND RAD50.
  12. "Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization."
    Desai-Mehta A., Cerosaletti K.M., Concannon P.
    Mol. Cell. Biol. 21:2184-2191(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MRE11.
  13. Cited for: PHOSPHORYLATION AT SER-343, MUTAGENESIS OF ARG-28; HIS-45; 136-GLY-GLY-137 AND TYR-176.
  14. "Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products."
    Zhao S., Weng Y.-C., Yuan S.-S.F., Lin Y.-T., Hsu H.-C., Lin S.-C., Gerbino E., Song M.-H., Zdzienicka M.Z., Gatti R.A., Shay J.W., Ziv Y., Shiloh Y., Lee E.Y.-H.P.
    Nature 405:473-477(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-278.
  15. "ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response."
    Wu X., Ranganathan V., Weisman D.S., Heine W.F., Ciccone D.N., O'Neill T.B., Crick K.E., Pierce K.A., Lane W.S., Rathbun G., Livingston D.M., Weaver D.T.
    Nature 405:477-482(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-343; SER-397 AND SER-615, MUTAGENESIS OF SER-343; SER-397 AND SER-615.
  16. "Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres."
    Zhu X.-D., Kuester B., Mann M., Petrini J.H.J., de Lange T.
    Nat. Genet. 25:347-352(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN TELOMERES, IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN A COMPLEX WITH TERF2.
  17. "Recruitment of NBS1 into PML oncogenic domains via interaction with SP100 protein."
    Naka K., Ikeda K., Motoyama N.
    Biochem. Biophys. Res. Commun. 299:863-871(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SP100, SUBCELLULAR LOCATION.
  18. "NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain."
    Kobayashi J., Tauchi H., Sakamoto S., Nakamura A., Morishima K., Matsuura S., Kobayashi T., Tamai K., Tanimoto K., Komatsu K.
    Curr. Biol. 12:1846-1851(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH H2AFX.
  19. "Importin KPNA2 is required for proper nuclear localization and multiple functions of NBS1."
    Tseng S.-F., Chang C.-Y., Wu K.-J., Teng S.-C.
    J. Biol. Chem. 280:39594-39600(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH KPNA2, MUTAGENESIS OF SER-397; 465-LYS-ARG-466 AND GLN-583.
  20. "ATM-dependent phosphorylation of ATF2 is required for the DNA damage response."
    Bhoumik A., Takahashi S., Breitweiser W., Shiloh Y., Jones N., Ronai Z.
    Mol. Cell 18:577-587(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ATF2, SUBCELLULAR LOCATION.
  21. "Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage."
    Falck J., Coates J., Jackson S.P.
    Nature 434:605-611(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: DOMAIN, MUTAGENESIS OF 736-GLU-GLU-737; 741-ASP-ASP-742 AND 745-ARG-TYR-746.
  22. "Nbs1 is required for ATR-dependent phosphorylation events."
    Stiff T., Reis C., Alderton G.K., Woodbine L., O'Driscoll M., Jeggo P.A.
    EMBO J. 24:199-208(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  23. "The role of NBS1 in DNA double strand break repair, telomere stability, and cell cycle checkpoint control."
    Zhang Y., Zhou J., Lim C.U.
    Cell Res. 16:45-54(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  24. "Adenovirus oncoproteins inactivate the Mre11-Rad50-NBS1 DNA repair complex."
    Stracker T.H., Carson C.T., Weitzman M.D.
    Nature 418:348-352(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INACTIVATION BY ADENOVIRUS ONCOPROTEINS.
  25. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
    Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
    Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-432, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  26. "Activation of Holliday junction recognizing protein involved in the chromosomal stability and immortality of cancer cells."
    Kato T., Sato N., Hayama S., Yamabuki T., Ito T., Miyamoto M., Kondo S., Nakamura Y., Daigo Y.
    Cancer Res. 67:8544-8553(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HJURP.
  27. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-397, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  28. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-397 AND SER-432, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  29. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  30. "N terminus of CtIP is critical for homologous recombination-mediated double-strand break repair."
    Yuan J., Chen J.
    J. Biol. Chem. 284:31746-31752(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH RBBP8.
  31. "SOSS complexes participate in the maintenance of genomic stability."
    Huang J., Gong Z., Ghosal G., Chen J.
    Mol. Cell 35:384-393(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH INTS3.
  32. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  33. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-397; THR-402 AND SER-432, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  34. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  35. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  36. "Interaction between NBS1 and the mTOR/Rictor/SIN1 complex through specific domains."
    Wang J.Q., Chen J.H., Chen Y.C., Chen M.Y., Hsieh C.Y., Teng S.C., Wu K.J.
    PLoS ONE 8:E65586-E65586(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN AKT1 PHOSPHORYLATION, INTERACTION WITH MTOR; MAPKAP1 AND RICTOR, INDUCTION BY IONIZING RADIATION.
  37. "Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL)."
    Varon R., Reis A., Henze G., von Einsiedel H.G., Sperling K., Seeger K.
    Cancer Res. 61:3570-3572(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LEU-93; ASN-95; VAL-171; PHE-210 AND TRP-215, POSSIBLE INVOLVEMENT IN CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA.
  38. "Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility."
    Heikkinen K., Karppinen S.-M., Soini Y., Maekinen M., Winqvist R.
    J. Med. Genet. 40:E131-E131(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BC PHE-150, VARIANTS GLN-185 AND ILE-574.
  39. Cited for: VARIANT GLN-185.
  40. "First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability."
    Shimada H., Shimizu K., Mimaki S., Sakiyama T., Mori T., Shimasaki N., Yokota J., Nakachi K., Ohta T., Ohki M.
    Hum. Genet. 115:372-376(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VAL-171.
  41. Cited for: VARIANT HIS-679.

Entry informationi

Entry nameiNBN_HUMAN
AccessioniPrimary (citable) accession number: O60934
Secondary accession number(s): B2R626
, B2RNC5, O60672, Q32NF7, Q53FM6, Q63HR6, Q7LDM2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: August 1, 1998
Last modified: September 3, 2014
This is version 127 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viral oncoproteins, thereby preventing concatenation of viral genomes in infected cells.

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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