Molecular weight (DA)
95kD
Immunogen
The antiserum was produced against synthesized peptide derived from human p95/NBS1 around the phosphorylation site of Ser343. AA range:310-359
Specificity
Phospho-Nibrin (S343) Polyclonal Antibody detects endogenous levels of Nibrin protein only when phosphorylated at S343.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
Western Blot: 1/500 - 1/2000. ELISA: 1/5000. Not yet tested in other applications.
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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],
Function
disease:Defects in NBN are a cause of genetic susceptibility to breast cancer (BC) [MIM:114480]. BC is an extremely common malignancy, affecting one in eight women during their lifetime. A positive family history has been identified as major contributor to risk of development of the disease, and this link is striking for early-onset breast cancer.,disease:Defects in NBN are the cause of Nijmegen breakage syndrome (NBS) [MIM:251260]. NBS is an autosomal recessive syndrome characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.,disease:Defects in NBN may be associated with aplastic anemia [MIM:609135]. Aplastic anemia is a disease of bone-marrow failure characterized by peripheral pancytopenia and marrow hypoplasia. Most of the cases of aplastic anemia are idiopa
Other name
NBN; NBS; NBS1; P95; Nibrin; Cell cycle regulatory protein p95; Nijmegen breakage syndrome protein 1
Fields
>>Homologous recombination;>>Cellular senescence
Human protein sequence Database
O60934
Mouse protein sequence database
Q9R207
Rat protein sequence database
Q9JIL9
Cellular localization
Nucleus . Nucleus, PML body . Chromosome, telomere . Chromosome . Localizes to discrete nuclear foci after treatment with genotoxic agents (PubMed:26438602, PubMed:10783165, PubMed:26215093). Acetylation of 'Lys-5' of histone H2AX (H2AXK5ac) promotes NBN/NBS1 assembly at the sites of DNA damage (PubMed:26438602). .
Tissue expression
Ubiquitous (PubMed:9590180). Expressed at high levels in testis (PubMed:9590180).
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