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Anti-phospho-Nibrin/nbs1 (Ser343), clone 2G2E3

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号:05-663

牌:Millipore 密理博

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Replacement Information

重要规格表

Species Reactivity Key Applications Host Format Antibody Type
H IP M Purified Monoclonal Antibody
Description
Catalogue Number 05-663
Brand Family Upstate
Trade Name
  • Upstate
Description Anti-phospho-Nibrin/Nbs1 (Ser343) Antibody, clone 2G2E3
References
Product Information
Format Purified
Presentation 0.1M Tris-glycine, pH 7.4, 0.15M NaCl, 0.05% sodium azide before the addition of glycerol to 30%
Applications
Application Detect phospho-Nibrin/Nbs1 (Ser343) with Anti-phospho-Nibrin/Nbs1 (Ser343) Antibody, clone 2G2E3 (Mouse Monoclonal Antibody), that has been demonstrated to work in IP.
Key Applications
  • Immunoprecipitation
Biological Information
Immunogen Peptide corresponding to amino acids 337-350 of human Nibrin/nbs1
Clone 2G2E3
Host Mouse
Specificity Nibrin/nbs1 phosphorylated on serine 343
Isotype IgG2aκ
Species Reactivity
  • Human
Antibody Type Monoclonal Antibody
Entrez Gene Number
Entrez Gene Summary 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. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Gene Symbol
  • NBN
  • P95
  • MGC87362
  • Nibrin
  • FLJ10155
  • ATV
  • AT-V2
  • NBS
  • AT-V1
  • NBS1
Modifications
  • Phosphorylation
Purification Method Protein A chromatography
UniProt Number
UniProt Summary FUNCTION: SwissProt: O60934 # 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.


SIZE: 754 amino acids; 84959 Da

SUBUNIT: Component of the MRN complex composed of two heterodimers RAD50/MRE11A associated with a single NBN. Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50 and MRE11A (By similarity). Interacts with histone H2AFX this requires phosphorylation of H2AFX on 'Ser-139'. Interacts with TERF2 and with KPNA2.

SUBCELLULAR LOCATION: Nucleus (By similarity). Note=Localizes to discrete nuclear foci after treatment with genotoxic agents (By similarity).

TISSUE SPECIFICITY: Ubiquitous. Expressed at high levels in testis.


DOMAIN: SwissProt: O60934 The FHA and BRCT domains are likely to have a crucial role for both binding to histone H2AFX and for relocalization of MRE11/RAD50 complex to the vicinity of DNA damage. & The C-terminal domain contains a MRE11-binding site, and this interaction is required for the nuclear localization of the MRN complex. & The EEXXXDDL motif at the C-terminus is required for the interaction with ATM and its recruitment to sites of DNA damage and promote the phosphorylation of ATM substrates, leading to the events of DNA damage response.

PTM: Phosphorylated by ATM in response of ionizing radiation, and such phosphorylation is responsible intra-S phase checkpoint control and telomere maintenance.

DISEASE: SwissProt: O60934 # 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. & 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. & 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 idiopathic, some are familial and some are due to a viral infection or to exposure to chemicals and radiation. & Defects in NBN might play a role in the pathogenesis of childhood acute lymphoblastic leukemia (ALL).

SIMILARITY: Contains 1 BRCT domain. & Contains 1 FHA domain.

MISCELLANEOUS: In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viral oncoproteins, thereby preventing concatenation of viral genomes in infected cells.
Molecular Weight ~100kDa
Physicochemical Information
Dimensions
Materials Information
Toxicological Information
Safety Information according to GHS
Safety Information
Product Usage Statements
Quality Assurance routinely evaluated by immunoprecipitating nibrin-containing immune complexes collected with anti-Nibrin (Catalog #07-317) from RIPA lysates of etoposide-treated, but not untreated, Jurkat cells
Usage Statement
  • Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
Storage and Shipping Information
Storage Conditions 2 years at -20°C
Packaging Information
Material Size 200 µg
Transport Information
Supplemental Information
Specifications

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