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NBS1 a member of the MRE11/RAD50 double-strand break repair complex. Involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. Mutation results in the Nijmegen breakage syndrome (NBS), an autosomal recessive chromosomal instability syndrome. Note: This description may include information from UniProtKB.
Protein type: Cell cycle regulation; DNA repair, damage
Chromosomal Location of Human Ortholog: 8q21.3
Cellular Component: cytosol; Mre11 complex; nuclear chromosome, telomeric region; nuclear inclusion body; nucleolus; nucleoplasm; nucleus; PML body; replication fork
Molecular Function: ATP-dependent DNA helicase activity; damaged DNA binding; protein binding; protein N-terminus binding; transcription factor binding
Biological Process: 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; isotype switching; meiotic cell cycle; mitotic cell cycle checkpoint; mitotic cell cycle G2/M transition DNA damage checkpoint; negative regulation of telomere capping; neuromuscular process controlling balance; positive regulation of kinase activity; positive regulation of protein amino acid autophosphorylation; positive regulation of telomere maintenance; regulation of DNA-dependent DNA replication initiation; strand displacement; telomere maintenance; telomeric 3' overhang formation
Disease: Aplastic Anemia; Leukemia, Acute Lymphoblastic; Nijmegen Breakage Syndrome
Reference #:  O60934 (UniProtKB)
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
Gene Symbols: NBN
Molecular weight: 84,959 Da
Basal Isoelectric point: 6.5  Predict pI for various phosphorylation states
CST Pathways:  G2/M DNA Damage Checkpoint  |  Protein Acetylation
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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