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Aliases for NBN Gene

Aliases for NBN Gene

  • Nibrin 2 3 5
  • Nijmegen Breakage Syndrome 1 (Nibrin) 2 3
  • Cell Cycle Regulatory Protein P95 3 4
  • NBS1 3 4
  • NBS 3 4
  • P95 3 4
  • P95 Protein Of The MRE11/RAD50 Complex 3
  • Nijmegen Breakage Syndrome Protein 1 4
  • AT-V1 3
  • AT-V2 3
  • ATV 3

External Ids for NBN Gene

Previous HGNC Symbols for NBN Gene

  • NBS
  • NBS1

Previous GeneCards Identifiers for NBN Gene

  • GC08M091015
  • GC08M086155
  • GC08M090945

Summaries for NBN Gene

Entrez Gene Summary for NBN Gene

  • Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]

GeneCards Summary for NBN Gene

NBN (Nibrin) is a Protein Coding gene. Diseases associated with NBN include nijmegen breakage syndrome and aplastic anemia. Among its related pathways are Gene Expression and Cellular Senescence. GO annotations related to this gene include transcription factor binding and damaged DNA binding.

UniProtKB/Swiss-Prot for NBN Gene

  • 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.

Gene Wiki entry for NBN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBN Gene

Genomics for NBN Gene

Regulatory Elements for NBN Gene

Promoters for NBN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NBN on UCSC Golden Path with GeneCards custom track

Genomic Location for NBN Gene

Chromosome:
8
Start:
89,933,336 bp from pter
End:
90,003,228 bp from pter
Size:
69,893 bases
Orientation:
Minus strand

Genomic View for NBN Gene

Genes around NBN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBN Gene

Proteins for NBN Gene

  • Protein details for NBN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60934-NBN_HUMAN
    Recommended name:
    Nibrin
    Protein Accession:
    O60934
    Secondary Accessions:
    • B2R626
    • B2RNC5
    • O60672
    • Q32NF7
    • Q53FM6
    • Q63HR6
    • Q7LDM2

    Protein attributes for NBN Gene

    Size:
    754 amino acids
    Molecular mass:
    84959 Da
    Quaternary structure:
    • 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. Interacts with herpes simplex virus 1 protein UL12.
    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.
    SequenceCaution:
    • Sequence=AAI08651.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 550.; Evidence={ECO:0000305}; Sequence=CAH56160.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for NBN Gene

Proteomics data for NBN Gene at MOPED

Post-translational modifications for NBN Gene

  • Phosphorylated by ATM in response of ionizing radiation, and such phosphorylation is responsible intra-S phase checkpoint control and telomere maintenance.
  • Ubiquitination at Lys 683
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NBN Gene

Domains & Families for NBN Gene

Suggested Antigen Peptide Sequences for NBN Gene

Graphical View of Domain Structure for InterPro Entry

O60934

UniProtKB/Swiss-Prot:

NBN_HUMAN :
  • 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.
Domain:
  • 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.
  • The C-terminal domain contains a MRE11-binding site, and this interaction is required for the nuclear localization of the MRN complex.
  • 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.
  • Contains 1 BRCT domain.
  • Contains 1 FHA domain.
genes like me logo Genes that share domains with NBN: view

No data available for Gene Families for NBN Gene

Function for NBN Gene

Molecular function for NBN Gene

UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot Induction:
Up-regulated by ionizing radiation (IR).
genes like me logo Genes that share phenotypes with NBN: view

Human Phenotype Ontology for NBN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NBN Gene

MGI Knock Outs for NBN:

Animal Model Products

  • Taconic Biosciences Mouse Models for NBN

miRNA for NBN Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for NBN Gene

Localization for NBN Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBN Gene

Nucleus. Nucleus, PML body. Chromosome, telomere. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NBN Gene COMPARTMENTS Subcellular localization image for NBN gene
Compartment Confidence
cytosol 5
nucleus 5
golgi apparatus 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016605 PML body IEA,IDA 10811102
GO:0042405 nuclear inclusion body IDA 12447371
genes like me logo Genes that share ontologies with NBN: view

Pathways & Interactions for NBN Gene

genes like me logo Genes that share pathways with NBN: view

SIGNOR curated interactions for NBN Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for NBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IDA 12529385
GO:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
GO:0001701 in utero embryonic development IEA --
GO:0001832 blastocyst growth IEA --
genes like me logo Genes that share ontologies with NBN: view

Drugs & Compounds for NBN Gene

(8) Drugs for NBN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for NBN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NBN: view

Transcripts for NBN Gene

Unigene Clusters for NBN Gene

Nibrin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NBN Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^
SP1: - - -
SP2: - -
SP3: - - -
SP4: - - - - - - -
SP5: -
SP6: -
SP7:
SP8:

ExUns: 17 ^ 18a · 18b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for NBN Gene

GeneLoc Exon Structure for
NBN
ECgene alternative splicing isoforms for
NBN

Expression for NBN Gene

mRNA expression in normal human tissues for NBN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NBN Gene

This gene is overexpressed in Breast (20.1), Peripheral blood mononuclear cells (19.3), and CD8 Tcells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NBN Gene



SOURCE GeneReport for Unigene cluster for NBN Gene Hs.492208

mRNA Expression by UniProt/SwissProt for NBN Gene

O60934-NBN_HUMAN
Tissue specificity: Ubiquitous. Expressed at high levels in testis.
genes like me logo Genes that share expression patterns with NBN: view

Protein tissue co-expression partners for NBN Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for NBN Gene

Orthologs for NBN Gene

This gene was present in the common ancestor of animals.

Orthologs for NBN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NBN 35
  • 87.04 (n)
  • 79.76 (a)
NBN 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NBN 35
  • 86.26 (n)
  • 78.12 (a)
-- 36
  • 77 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Nbn 35
  • 77.88 (n)
  • 71.16 (a)
Nbn 16
Nbn 36
  • 71 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NBN 35
  • 98.81 (n)
  • 98.28 (a)
NBN 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nbn 35
  • 78.1 (n)
  • 69.83 (a)
oppossum
(Monodelphis domestica)
Mammalia NBN 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 49 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
-- 36
  • 49 (a)
OneToMany
chicken
(Gallus gallus)
Aves NBN 35
  • 63.32 (n)
  • 52.54 (a)
NBN 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NBN 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nbn 35
  • 54.9 (n)
  • 45.23 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9528 35
zebrafish
(Danio rerio)
Actinopterygii Dr.17261 35
nbn 35
  • 52.58 (n)
  • 43.48 (a)
nbn 36
  • 32 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nbs 36
  • 20 (a)
OneToOne
Species with no ortholog for NBN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NBN Gene

ENSEMBL:
Gene Tree for NBN (if available)
TreeFam:
Gene Tree for NBN (if available)

Paralogs for NBN Gene

No data available for Paralogs for NBN Gene

Variants for NBN Gene

Sequence variations from dbSNP and Humsavar for NBN Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs12721593 - 89,981,417(-) GAAGT(C/T)GGGGG nc-transcript-variant, reference, missense
rs61753720 - 89,981,412(+) ACCAT(C/T)CCCCG nc-transcript-variant, reference, missense
rs13312858 - 89,981,380(-) AGTAA(A/T)TTCAG nc-transcript-variant, reference, missense
VAR_025795 Breast cancer (BC)
rs61754966 - 89,978,293(+) TACAA(C/T)TGGAC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NBN Gene

Variant ID Type Subtype PubMed ID
nsv891183 CNV Gain 21882294

Variation tolerance for NBN Gene

Residual Variation Intolerance Score: 86.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.40; 88.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NBN Gene

HapMap Linkage Disequilibrium report
NBN
Human Gene Mutation Database (HGMD)
NBN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBN Gene

Disorders for NBN Gene

MalaCards: The human disease database

(24) MalaCards diseases for NBN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nijmegen breakage syndrome
  • berlin breakage syndrome
aplastic anemia
  • pulmonary fibrosis, idiopathic
breast-ovarian cancer, familial, 1
  • brovca1
leukemia, acute lymphoblastic
  • leukemia, t-cell acute lymphocytic, somatic
breast cancer
  • breast cancer, invasive ductal
- elite association - COSMIC cancer census association via MalaCards
Search NBN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NBN_HUMAN
  • 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. {ECO:0000269 PubMed:15338273}. Note=Disease susceptibility may be associated with variations 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. {ECO:0000269 PubMed:14684699}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:9590180}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in NBN might play a role in the pathogenesis of childhood acute lymphoblastic leukemia (ALL). {ECO:0000269 PubMed:11325820}.

Relevant External Links for NBN

Genetic Association Database (GAD)
NBN
Human Genome Epidemiology (HuGE) Navigator
NBN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NBN
genes like me logo Genes that share disorders with NBN: view

No data available for Genatlas for NBN Gene

Publications for NBN Gene

  1. Polymorphisms in DNA repair and metabolic genes in bladder cancer. (PMID: 14688016) Sanyal S. … Hemminki K. (Carcinogenesis 2004) 3 4 48 67
  2. The DNA repair protein NBS1 influences the base excision repair pathway. (PMID: 19126654) Sagan D. … Eckardt-Schupp F. (Carcinogenesis 2009) 3 23
  3. Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations. (PMID: 19151620) Watanabe T. … Ohgaki H. (J. Neuropathol. Exp. Neurol. 2009) 3 23
  4. High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. (PMID: 19338682) Suspitsin E.N. … Imyanitov E.N. (Hered Cancer Clin Pract 2009) 3 23
  5. Loss of p53-regulatory protein IFI16 induces NBS1 leading to activation of p53-mediated checkpoint by phosphorylation of p53 SER37. (PMID: 17981542) Tawara H. … Ouchi T. (Front. Biosci. 2008) 3 23

Products for NBN Gene

Sources for NBN Gene

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