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NBN nibrin [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_002485 Homo sapiens nibrin (NBN), mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005250923 PREDICTED: Homo sapiens nibrin (NBN), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

Related Services

Gene Symbol NBN
Entrez Gene ID 4683
Full Name nibrin
Synonyms AT-V1, AT-V2, ATV, NBS, NBS1, P95
General protein information
Preferred Names
nibrin
Names
nibrin
cell cycle regulatory protein p95
Nijmegen breakage syndrome 1 (nibrin)
p95 protein of the MRE11/RAD50 complex
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

8

8q21

Summary 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].
Disorder

MIM: 602667

Nijmegen breakage syndrome, 251260 (3); Leukemia, acute

mRNA Protein Product Sequence Price Select
NM_002485, 67189763 NP_002476, 33356172 nibrin ORF Sequence $700.00
XM_005250923, 530389033 XP_005250980, 530389034 nibrin isoform X1 ORF Sequence $700.00
KEGG
hsa03440Homologous recombination
hsa_M00291MRN complex
hsa_M00295BRCA1-associated genome surveillance complex (BASC)
WikiPathways
WP707DNA damage response
WP186Homologous recombination
WP1530miRNA Regulation of DNA Damage Response
Pathway Interaction Database
bard1pathwayBARD1 signaling events
telomerasepathwayRegulation of Telomerase
myc_activpathwayValidated targets of C-MYC transcriptional activation
Reactome
REACT_216DNA Repair
REACT_1587Homologous recombination repair of replication-independent double-strand breaks
REACT_204ATM mediated response to DNA double-strand break
REACT_97Recruitment of repair and signaling proteins to double-strand breaks
REACT_486Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks
REACT_1884MRN complex relocalizes to nuclear foci
REACT_2054Double-Strand Break Repair
REACT_1874Homologous Recombination Repair
REACT_1924ATM mediated phosphorylation of repair proteins
REACT_27271Meiotic recombination
REACT_111183Meiosis
REACT_115566Cell Cycle
REACT_120956Cellular responses to stress
REACT_169274Cellular Senescence
REACT_169185DNA Damage/Telomere Stress Induced Senescence
Homo sapiens (human)NBNNP_002476.2
Pan troglodytes (chimpanzee)NBNXP_519851.3
Macaca mulatta (Rhesus monkey)NBNXP_001085033.1
Canis lupus familiaris (dog)NBNXP_005638161.1
Bos taurus (cattle)NBNNP_001069305.2
Mus musculus (house mouse)NbnNP_038780.3
Rattus norvegicus (Norway rat)NbnNP_620228.1
Gallus gallus (chicken)NBNNP_989668.1
Danio rerio (zebrafish)nbnNP_001014819.1
Xenopus (Silurana) tropicalis (western clawed frog)nbnXP_004915210.1
Process
IDNameEvidence
GO:0000077DNA damage checkpointIDA
GO:0000723telomere maintenanceIMP
GO:0000724double-strand break repair via homologous recombinationTAS
GO:0001832blastocyst growthIEA
GO:0006281DNA repairTAS
GO:0006302double-strand break repairIDA
GO:0006302double-strand break repairTAS
GO:0007050cell cycle arrestTAS
GO:0007093mitotic cell cycle checkpointIDA
GO:0007095mitotic G2 DNA damage checkpointIDA
GO:0007126meiotic nuclear divisionIEA
GO:0008283cell proliferationIEA
GO:0030174regulation of DNA-dependent DNA replication initiationTAS
GO:0030330DNA damage response, signal transduction by p53 class mediatorTAS
GO:0031954positive regulation of protein autophosphorylationIDA
GO:0032508DNA duplex unwindingIMP
GO:0033674positive regulation of kinase activityIDA
GO:0045190isotype switchingIEA
GO:0050885neuromuscular process controlling balanceIEA
GO:0097193intrinsic apoptotic signaling pathwayIEA
Component
IDNameEvidence
GO:0000784nuclear chromosome, telomeric regionIDA
GO:0005634nucleusIDA
GO:0005654nucleoplasmTAS
GO:0005657replication forkIEA
GO:0005730nucleolusIDA
GO:0016605PML bodyIDA
GO:0030870Mre11 complexIDA
GO:0035861site of double-strand breakIDA
GO:0042405nuclear inclusion bodyIDA
Function
IDNameEvidence
GO:0003684damaged DNA bindingIC
GO:0004003ATP-dependent DNA helicase activityIMP
GO:0005515protein bindingIPI
GO:0008134transcription factor bindingIPI
GO:0047485protein N-terminus bindingIPI
GeneCards NBN
UniProt O60934
Vega OTTHUMG00000153546
MIM 602667
Ensembl ENSG00000104320
HGNC 7652
HPRD 04050

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the NBN gene?

The NBN gene provides instructions for making a protein called nibrin. This protein is involved in several critical cellular functions, including the repair of damaged DNA.

Nibrin interacts with two other proteins, produced from the MRE11A and RAD50 genes, as part of a larger protein complex. Nibrin regulates the activity of this complex by carrying the MRE11A and RAD50 proteins into the cell's nucleus and guiding them to sites of DNA damage. The proteins work together to mend broken strands of DNA. DNA can be damaged by agents such as toxic chemicals or radiation, and breaks in DNA strands also occur naturally when chromosomes exchange genetic material in preparation for cell division. Repairing DNA prevents cells from accumulating genetic damage that may cause them to die or to divide uncontrollably.

The MRE11A/RAD50/NBN complex interacts with the protein produced from the ATM gene, which plays an essential role in recognizing broken strands of DNA and coordinating their repair. The MRE11A/RAD50/NBN complex helps maintain the stability of a cell's genetic information through its roles in repairing damaged DNA and regulating cell division. Because these functions are critical for preventing the formation of cancerous tumors, nibrin is described as a tumor suppressor.

Interactant

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