• Navigation
  • Register My DNA Kit
  • Features
  • Pricing
  • FAQ
  • About
  • Labs
  • Login
  • Get started
  1. Home
  2. Genes
  3. NBN

NBN (Nibrin)

Loading...

Summary of NBN

The gene codes for a protein, nibrin. Mutations are linked to Nijmegen breakage syndrome [R].

0 users want this gene increased, 0 users want it decreased

The Function of NBN

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.

Protein names

Recommended name:

Nibrin

Alternative name(s):

Cell cycle regulatory protein p95
Nijmegen breakage syndrome protein 1

NBN SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS1061302 (NBN) ??
  2. RS1805794 (NBN) ??
  3. RS34767364 (NBN) ??
  4. RS61754966 (NBN) ??

Top Gene-Substance Interactions

NBN Interacts with These Diseases

Disease Score

Substances That Increase NBN

Substances Interaction Organism Category

Substances That Decrease NBN

Substances Interaction Organism Category

Advanced Summary

     breast cancer Genetics Home Reference provides information about breast cancer . Nijmegen breakage syndrome At least 10 mutations in the NBN gene have been found to cause Nijmegen breakage syndrome, a condition characterized by slow growth, recurrent infections, and an increased risk of developing cancer. The NBN gene mutations that cause Nijmegen breakage syndrome typically lead to the production of an abnormally short version of the nibrin protein. The mutation found in most affected individuals, particularly in Slavic populations of Eastern Europe, deletes five DNA building blocks (nucleotides) from the NBN gene (written as 657_661del5). This mutation leads to the production of a shortened version of the nibrin protein called p70-nibrin. This shortened protein is not as effective as normal nibrin in responding to DNA damage, but p70-nibrin does appear to have some residual function. When breaks in DNA are not repaired properly, genetic damage can accumulate. A buildup of mistakes in DNA can trigger cells to grow and divide abnormally, increasing the risk of cancer in people with Nijmegen breakage syndrome. Nibrin's role in regulating cell division and cell growth (proliferation) is thought to lead to the problems with the immune system that are seen in affected individuals. A lack of functional nibrin results in less immune cell proliferation. A decrease in the amount of immune cells that are produced leads to a malfunctioning immune system. It is unclear how mutations in the NBN gene cause the other features of Nijmegen breakage syndrome. ovarian cancer Genetics Home Reference provides information about ovarian cancer. prostate cancer Genetics Home Reference provides information about prostate cancer. other cancers Inherited mutations in the NBN gene, including the c.657_661del5 mutation described above, have also been associated with several other types of cancer. Studies in Eastern European populations reported that people with mutations in one copy of the NBN gene in each cell may be more likely to develop breast cancer, prostate cancer, ovarian cancer, an aggressive form of skin cancer (melanoma), or cancer of blood-forming cells (leukemia) than people who do not carry NBN mutations. Cells with a mutation in one copy of the NBN gene do not repair DNA as effectively as cells without these mutations. It is thought that DNA damage accumulates over time, which can trigger cells to grow and divide uncontrollably and increase the risk of developing cancer.

     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.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • NF-kappaB
  • PPAR-gamma1
  • PPAR-gamma2
  • p53
  • NF-kappaB1
  • E2F-1

Tissue specificity:

Ubiquitous. Expressed at high levels in testis.

Gene Pathways:

  • Cellular responses to stress
  • DNA Repair
  • DNA replication and repair

Induction:

Up-regulated by ionizing radiation (IR).

Molecular Function:

  • Damaged Dna Binding
  • Protein N-Terminus Binding
  • Transcription Factor Binding

Biological Processes:

  • Blastocyst Growth
  • Cell Cycle Arrest
  • Cell Proliferation
  • Dna Damage Checkpoint
  • Dna Damage Response, Signal Transduction By P53 Class Mediator
  • Dna Double-Strand Break Processing
  • Dna Duplex Unwinding
  • Dna Replication
  • Dna Synthesis Involved In Dna Repair
  • Double-Strand Break Repair
  • Double-Strand Break Repair Via Homologous Recombination
  • Double-Strand Break Repair Via Nonhomologous End Joining
  • Intrinsic Apoptotic Signaling Pathway
  • Isotype Switching
  • Meiotic Cell Cycle
  • Mitotic Cell Cycle Checkpoint
  • Mitotic G2 Dna Damage Checkpoint
  • Negative Regulation Of Telomere Capping
  • Neuromuscular Process Controlling Balance
  • Positive Regulation Of Kinase Activity
  • Positive Regulation Of Protein Autophosphorylation
  • Positive Regulation Of Telomere Maintenance
  • Regulation Of Dna-Dependent Dna Replication Initiation
  • Regulation Of Signal Transduction By P53 Class Mediator
  • Strand Displacement
  • Telomere Maintenance
  • Telomeric 3' Overhang Formation
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| Anapl_14986| AS27_05176| AS28_02716| ATV| AT-V1| AT-V2| CB1_001108003| cell cycle regulatory protein p95| D623_10016661| EGK_19107| H920_18500| I79_012607| M91_21425| M959_13811| MDA_GLEAN10002523| N300_15056| N301_02657| N302_07851| N303_06392| N305_11250| N306_08845| N307_11049| N308_11841| N309_01136| N310_01535| N311_11351| N312_09000| N321_11867| N324_06810| N325_04731| N327_02580| N328_09890| N330_01029| N331_00857| N333_06223| N334_03440| N335_09797| N336_11486| N339_10053| N340_10356| NBS| Nbs1| nibrin-like protein| Nijmegen breakage syndrome 1 (nibrin)| nijmegen breakage syndrome protein 1 homolog| P95| p95 protein of the MRE11/RAD50 complex| PAL_GLEAN10019472| PANDA_012471| TREES_T100013372| UY3_00429| Y1Q_010173| Z169_02518| nbn

Policies

  • Terms of Service
  • Platform Consent
  • Privacy Policy
  • Disclaimer

About

  • Customer Support
  • Our Team
  • Affiliate Program

Navigation

  • Homepage
  • DNA Wellness Reports
  • Personalized Genetics Blog
  • Register your DNA Test Kit
  • Login
  • Careers
GET STARTED
  • SelfDecode is a personalized health report service, which enables users to obtain detailed information and reports based on their genome. SelfDecode does not treat, diagnose or cure any conditions, but is for informational and educational purposes alone.
SelfDecode © 2021 All Rights Reserved