nibrin; Nijmegen breakage syndrome protein 1; cell cycle regulatory protein p95 (NBN, NBS, NBS1, P95)

Function

• DNA damage signal sensing (DNA double-strand break repair)
• recruits ATM, ATR, DNA-PKcs to the DNA damage sites
• recruits MRE11 & RAD50 to DNA double-strand breaks via interaction with histone H2AX
• telomere length maintenance
  • generates 3'overhang which serves as primer for telomerase
• control of intra-S-phase checkpoint
• G1 & G2 checkpoints (putative)
• component of MRN complex
• component of BASC complex
• interacts with histone H2AFX; requires phosphorylation of H2AFX on Ser-139
• interacts with TERF2 & KPNA2
• phosphorylation by ATM in response to ionizing radiation; phosphorylation associated with intra-S phase checkpoint control & telomere maintenance

Compartment

• nucleus, telomere
• localizes to discrete nuclear foci after treatment with genotoxic agents (putative)

Expression

• ubiquitous, expressed at high levels in testis

Pathology

• defects in the nibrin gene are associated with
  • Nijmegen breakage syndrome
  • genetic susceptibility to breast cancer
  • aplastic anemia
  • childhood acute lymphoblastic leukemia (putative)
• also see MRN complex

More general terms

• nuclear protein
• phosphoprotein

Additional terms

• acute lymphoblastic leukemia (ALL)
• aplastic anemia
• breast cancer
• Nijmegen breakage syndrome; ataxia-telangiectasia variant 1

Component of

• BRCA1-associated genome surveillance complex (BASC)
• MRN complex

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4683
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4683
• OMIM: https://mirror.omim.org/entry/114480
• OMIM: https://mirror.omim.org/entry/251260
• OMIM: https://mirror.omim.org/entry/602667
• OMIM: https://mirror.omim.org/entry/609135
• UniProt: http://www.uniprot.org/uniprot/O60934.html