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Aliases for NBN Gene

Aliases for NBN Gene

  • Nibrin 2 3
  • NBS1 3 4 6
  • NBS 3 4 6
  • Nijmegen Breakage Syndrome 1 (Nibrin) 2 3
  • Cell Cycle Regulatory Protein P95 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 Symbols for NBN Gene

  • NBS
  • NBS1

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 breast-ovarian cancer, familial, 1. Among its related pathways are ERK Signaling and Cell Cycle / Checkpoint Control. 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

Genomic Location for NBN Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NBN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBN Gene

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys683

Other Protein References for NBN Gene

No data available for DME Specific Peptides for NBN Gene

Domains for NBN Gene

Suggested Antigen Peptide Sequences for NBN Gene

Graphical View of Domain Structure for InterPro Entry

O60934

UniProtKB/Swiss-Prot:

NBN_HUMAN
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.:
    • O60934
  • The C-terminal domain contains a MRE11-binding site, and this interaction is required for the nuclear localization of the MRN complex.:
    • O60934
  • 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.:
    • O60934
  • Contains 1 BRCT domain.:
    • O60934
  • Contains 1 FHA domain.:
    • O60934
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).

Gene Ontology (GO) - Molecular Function for NBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 contributes_to damaged DNA binding IC 9590180
GO:0004003 contributes_to ATP-dependent DNA helicase activity IMP 15790808
GO:0005515 protein binding IPI 12419185
GO:0008134 transcription factor binding IPI 11486038
GO:0047485 protein N-terminus binding IPI 9590181
genes like me logo Genes that share ontologies with NBN: view
genes like me logo Genes that share phenotypes with NBN: view

Animal Models for NBN Gene

MGI Knock Outs for NBN:

miRNA for NBN Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
nucleus 5
cytosol 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 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:0000784 nuclear chromosome, telomeric region IDA 10888888
GO:0005634 nucleus IDA 10888888
GO:0005654 nucleoplasm TAS --
GO:0005657 replication fork IEA --
GO:0005730 nucleolus IDA 10888888
genes like me logo Genes that share ontologies with NBN: view

Pathways for NBN Gene

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

Gene Ontology (GO) - Biological Process for NBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IDA 12529385
GO:0000723 telomere maintenance IMP 11448772
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0001701 in utero embryonic development --
GO:0001832 blastocyst growth IEA --
genes like me logo Genes that share ontologies with NBN: view

Compounds for NBN Gene

(13) Novoseek inferred chemical compound relationships for NBN Gene

Compound -log(P) Hits PubMed IDs
tin(2+) 61.7 1
methylmethanesulfonate 53.7 3
camptothecin 34 1
phosphatidylinositol 31.8 4
mononucleotide 30.9 1
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

Integrated Proteomics: protein expression 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 expressions with NBN: view

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
chimpanzee
(Pan troglodytes)
Mammalia NBN 35
  • 98.81 (n)
  • 98.28 (a)
NBN 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NBN 35
  • 87.04 (n)
  • 79.76 (a)
NBN 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 77 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
NBN 35
  • 86.26 (n)
  • 78.12 (a)
mouse
(Mus musculus)
Mammalia Nbn 35
  • 77.88 (n)
  • 71.16 (a)
Nbn 16
Nbn 36
  • 71 (a)
OneToOne
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
rat
(Rattus norvegicus)
Mammalia Nbn 35
  • 78.1 (n)
  • 69.83 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.9528 35
tropical clawed frog
(Silurana tropicalis)
Amphibia nbn 35
  • 54.9 (n)
  • 45.23 (a)
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 MAF
rs3358 -- 89,974,462(+) TGTGT(C/T)TGTTG intron-variant
rs9995 -- 89,933,828(-) atata(C/T)gtatt utr-variant-3-prime, nc-transcript-variant
rs14448 -- 89,933,605(-) AATTA(C/T)GGATC utr-variant-3-prime, nc-transcript-variant
rs16786 -- 89,959,460(+) TTCTA(A/T)TAACA intron-variant
rs709816 -- 89,955,483(+) GGTGC(A/G)TCTTG synonymous-codon, reference, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
nsv891183 CNV Gain 21882294

Relevant External Links for NBN Gene

HapMap Linkage Disequilibrium report
NBN
Human Gene Mutation Database (HGMD)
NBN
Locus Specific Mutation Databases (LSDB)
NBN

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

Disorders for NBN Gene

(3) OMIM Diseases for NBN Gene (602667)

UniProtKB/Swiss-Prot

NBN_HUMAN
  • 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.
  • 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.
  • 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.
  • Note=Defects in NBN might play a role in the pathogenesis of childhood acute lymphoblastic leukemia (ALL).

(3) University of Copenhagen DISEASES for NBN Gene

(36) Novoseek inferred disease relationships for NBN Gene

Disease -log(P) Hits PubMed IDs
nijmegen breakage syndrome 99 95
ataxia telangiectasia 90.5 22
ataxia-telangiectasia-like disorder 89.3 4
microcephaly 85.8 8
chromosome fragility 71.1 2

Relevant External Links for NBN

GeneTests
NBN
GeneReviews
NBN
Genetic Association Database (GAD)
NBN
Human Genome Epidemiology (HuGE) Navigator
NBN
genes like me logo Genes that share disorders with NBN: view

Publications for NBN Gene

  1. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. (PMID: 9590180) Varon R. … Reis A. (Cell 1998) 2 3 4 23
  2. Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95. (PMID: 9705271) Trujillo K.M. … Sung P. (J. Biol. Chem. 1998) 3 4 23
  3. Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the Nijmegen breakage syndrome gene, NBS1. (PMID: 9933573) Tauchi H. … Nakamura Y. (Genomics 1999) 3 4 23
  4. ATM-dependent phosphorylation of nibrin in response to radiation exposure. (PMID: 10802669) Gatei M. … Khanna K.K. (Nat. Genet. 2000) 3 4 23
  5. Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. (PMID: 10839544) Zhao S. … Lee E.Y.-H.P. (Nature 2000) 3 4 23

Products for NBN Gene

Sources for NBN Gene

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