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NBS1
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 MRE11. 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. Ubiquitous. Expressed at high levels in testis. Note: This description may include information from UniProtKB.
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| Protein type: Cell cycle regulation; DNA repair, damage |
| Chromosomal Location of human Ortholog: 8q21.3 |
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Cellular Component:
BRCA1-C complex; chromosomal region; chromosome, telomeric region; cytosol; Golgi apparatus; Mre11 complex; nuclear inclusion body; nucleolus; nucleoplasm; nucleus; PML body; replication fork; site of double-strand break
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Molecular Function:
damaged DNA binding; DNA-binding transcription factor binding; protein binding
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Biological Process:
blastocyst growth; DNA damage checkpoint signaling; DNA damage response, signal transduction by p53 class mediator; DNA double-strand break processing; DNA duplex unwinding; DNA strand resection involved in replication fork processing; double-strand break repair; double-strand break repair via homologous recombination; homologous recombination; intrinsic apoptotic signaling pathway; isotype switching; meiotic cell cycle; mitotic G2 DNA damage checkpoint signaling; mitotic G2/M transition checkpoint; negative regulation of telomere capping; neuroblast proliferation; neuromuscular process controlling balance; positive regulation of kinase activity; positive regulation of protein autophosphorylation; positive regulation of telomere maintenance; regulation of cell cycle; regulation of DNA-templated DNA replication initiation; t-circle formation; telomere maintenance; telomere maintenance via telomere trimming; telomeric 3' overhang formation
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Disease: Aplastic Anemia; Leukemia, Acute Lymphoblastic; Nijmegen Breakage Syndrome
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Reference #:
O60934
(UniProtKB)
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Alt. Names/Synonyms: AT-V1; AT-V2; ATV; Cell cycle regulatory protein p95; FLJ10155; MGC87362; NBN; NBS; NBS1; Nibrin; Nijmegen breakage syndrome 1 (nibrin); Nijmegen breakage syndrome protein 1; P95; p95 protein of the MRE11/RAD50 complex
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Gene Symbols: NBN
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Molecular weight:
84,959 Da
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Basal Isoelectric point:
6.5
Predict pI for various phosphorylation states
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CST Pathways:
G2/M DNA Damage Checkpoint
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Protein Acetylation
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Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
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