Mutations in p95/NBS1 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.Hsu HL, et al (2005)Oncogene; 24(31): 4956-64.Falck J, et al. (2005) Nature; 434(7033): 605-11.Buscemi G, et al. (2004) Oncogene; 23(46): 7691-700.Beausoleil SA, et al. (2004) Proc Natl Acad Sci U S A; 101(33): 12130-5.
Host
Rabbit
Immunogen
Peptide sequence around aa.341~345 (S-L-S-Q-G) derived from Human p95/NBS1.
Involvement In Disease
Nijmegen breakage syndrome (NBS); Breast cancer (BC); Aplastic anemia (AA)
Raised In
Rabbit
Reactivity
Human
Regulatory
RUO
Relevance
Mutations in p95/NBS1 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.
Hsu HL, et al (2005)Oncogene; 24(31): 4956-64. Falck J, et al. (2005) Nature; 434(7033): 605-11. Buscemi G, et al. (2004) Oncogene; 23(46): 7691-700. Beausoleil SA, et al. (2004) Proc Natl Acad Sci U S A; 101(33): 12130-5.
Species
Homo Sapiens (Human)
Specificity
The antibody detects endogenous level of total p95/NBS1 protein.
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.
Pathway
Cellular senescence
Tissue Specificity
Ubiquitous. Expressed at high levels in testis.
Buffer
Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Form
Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Format
liquid
Purification
Antibodies were produced by immunizing rabbits with synthetic peptide and KLH conjugates. Antibodies were purified by affinity-chromatography using epitope-specific peptide.
Purity
Antibodies were produced by immunizing rabbits with synthetic peptide and KLH conjugates. Antibodies were purified by affinity-chromatography using epitope-specific peptide.
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.