NP_002476
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
84,959 Da
NCBI Official Full Name
nibrin
NCBI Official Synonym Full Names
nibrin
NCBI Official Synonym Symbols
ATV; NBS; P95; NBS1; AT-V1; AT-V2 [Similar Products]
NCBI Protein Information
nibrin; cell cycle regulatory protein p95; Nijmegen breakage syndrome 1 (nibrin); p95 protein of the MRE11/RAD50 complex
UniProt Protein Name
Nibrin
UniProt Synonym Protein Names
Cell cycle regulatory protein p95; Nijmegen breakage syndrome protein 1
UniProt Synonym Gene Names
UniProt Entry Name
NBN_HUMAN
NCBI Summary for NBN
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 Comments for NBN
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: DNA repair, damage; Cell cycle regulation
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; isotype switching; positive regulation of kinase activity; 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
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Products associated with anti-NBN antibody
Pathways associated with anti-NBN antibody
Diseases associated with anti-NBN antibody
Organs/Tissues associated with anti-NBN antibody
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