catalog number :
MBS1129521
products type :
Recombinant Protein
products full name :
Recombinant Human Nibrin (NBN)
products short name :
Nibrin (NBN)
products name syn :
Nibrin; Cell cycle regulatory protein p95; Nijmegen breakage syndrome protein 1
other names :
nibrin; Nibrin; nibrin; cell cycle regulatory protein p95; Nijmegen breakage syndrome 1 (nibrin); p95 protein of the MRE11/RAD50 complex; nibrin; Cell cycle regulatory protein p95; Nijmegen breakage syndrome protein 1
products gene name syn :
NBN; NBS; NBS1; P95
other gene names :
NBN; NBN; ATV; NBS; P95; NBS1; AT-V1; AT-V2; NBS; NBS1; P95
uniprot entry name :
NBN_HUMAN
host :
E Coli or Yeast or Baculovirus or Mammalian Cell
sequence positions :
1-754
sequence :
MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF LKAVESKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE EWLRQEMEVQ NQHAKEESLA DDLFRYNPYL KRRR
form :
Liquid containing glycerol; lyophilization may be available upon request.
storage stability :
Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.
other info1 :
Species: Homo sapiens (Human)
products description :
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. Forms a complex with RBBP8 to link DNA double-strand break sensing to resection. Enhances AKT1 phosphorylation possibly by association with the mTORC2 complex.
ncbi acc num :
NP_002476.2
ncbi gb acc num :
NM_002485.4
ncbi pathways :
ATM Mediated Phosphorylation Of Repair Proteins Pathway (105865); ATM Mediated Response To DNA Double-strand Break Pathway (105864); Assembly Of The RAD50-MRE11-NBS1 Complex At DNA Double-strand Breaks Pathway (105868); BARD1 Signaling Events Pathway (137959); BRCA1-associated Genome Surveillance Complex (BASC) Pathway (413428); DNA Repair Pathway (105837); DNA Damage Response Pathway (198788); Double-Strand Break Repair Pathway (105861); Homologous Recombination Repair Pathway (105862); Homologous Recombination Pathway (198890)
ncbi 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. [provided by RefSeq, Jul 2008]
uniprot summary :
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. Protein type: Cell cycle regulation; DNA repair, damage. Chromosomal Location of Human Ortholog: 8q21. Cellular Component: nucleoplasm; PML body; Mre11 complex; nuclear chromosome, telomeric region; nucleolus; replication fork; nucleus; nuclear inclusion body. Molecular Function: ATP-dependent DNA helicase activity; protein binding; damaged DNA binding; protein N-terminus binding; transcription factor binding. Biological Process: DNA damage response, signal transduction by p53 class mediator; mitotic cell cycle checkpoint; positive regulation of kinase activity; isotype switching; DNA repair; positive regulation of protein amino acid autophosphorylation; double-strand break repair via homologous recombination; DNA duplex unwinding; regulation of DNA replication initiation; cell proliferation; meiotic cell cycle; double-strand break repair; mitotic cell cycle G2/M transition DNA damage checkpoint; DNA damage checkpoint; blastocyst growth; cell cycle arrest; neuromuscular process controlling balance; telomere maintenance. Disease: Leukemia, Acute Lymphoblastic; Nijmegen Breakage Syndrome; Aplastic Anemia
size2 :
0.05 mg (Baculovirus)
size4 :
0.05 mg (Mammalian-Cell)