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QuickView for NBN;jsessionid=CD74FC213603C0F981022153C60E95B5 (gene)


Gene Symbol:
NBN Homo sapiens Homo sapiens
Full name:
nibrin
Synonyms:
AT-V1, AT-V2, ATV, NBS, NBS1, P95, nibrin, Nijmegen breakage syndrome 1 (nibrin), cell cycle regulatory protein p95, p95 protein of the MRE11/RAD50 complex
Genomic Location:
Chr 8: 91014740-91066075
Description:
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 p...
Orthologs:
Mus musculus Rattus norvegicus D. melanogaster Macaca mulatta Gallus gallus Pan troglodytes Bos taurus Danio rerio Canis lupus familiaris
External Links:
Entrez Gene
Cytogenetic Map:
chr 8
8q21.3





GO Molecular Function

nucleic acid binding | ATP-dependent DNA helicase activity | hydrolase activity | ATPase activity | pyrophosphatase activity | catalytic activity | protein N-terminus binding | nucleoside-triphosphatase activity | ATPase activity, coupled | DNA binding | damaged DNA binding | ATP-dependent helicase activity | organic cyclic compound binding | DNA helicase activity | protein binding | transcription factor binding | hydrolase activity, acting on acid anhydrides | DNA-dependent ATPase activity | helicase activity | heterocyclic compound binding | hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides

GO Biological Process

double-strand break repair | adaptive immune response | regulation of cell cycle process | telomere maintenance | positive regulation of cellular component organization | intracellular signal transduction | negative regulation of cellular process | telomere capping | positive regulation of phosphate metabolic process | regulation of DNA replication | regulation of organelle organization | negative regulation of DNA metabolic process | neuromuscular process controlling balance | cellular process | mitotic DNA integrity checkpoint | developmental growth | immune system development | regulation of cell cycle | positive regulation of catalytic activity | positive regulation of nitrogen compound metabolic process | negative regulation of cellular metabolic process | DNA geometric change | anatomical structure homeostasis | t-circle formation | intrinsic apoptotic signaling pathway | regulation of cellular process | leukocyte activation | regulation of metabolic process | organic cyclic compound metabolic process | positive regulation of cellular protein metabolic process | cellular aromatic compound metabolic process | regulation of G2/M transition of mitotic cell cycle | cellular component organization | ATP-dependent DNA helicase activity | regulation of telomere capping | response to stimulus | regulation of mitotic cell cycle phase transition | positive regulation of protein metabolic process | response to stress | negative regulation of G2/M transition of mitotic cell cycle | leukocyte activation involved in immune response | mitotic G2 DNA damage checkpoint | regulation of cell cycle phase transition | programmed cell death | reproduction | cellular nitrogen compound metabolic process | telomere organization | double-strand break repair via nonhomologous end joining | negative regulation of metabolic process | cellular component assembly | cellular biosynthetic process | embryo development | DNA recombination | DNA repair | apoptotic process | regulation of cell cycle G2/M phase transition | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains | system development | nitrogen compound metabolic process | reproductive process | negative regulation of mitotic cell cycle phase transition | positive regulation of organelle organization | DNA damage response, signal transduction by p53 class mediator | double-strand break repair via homologous recombination | mitotic DNA damage checkpoint | multicellular organism development | negative regulation of cell cycle G2/M phase transition | cellular response to DNA damage stimulus | regulation of telomere maintenance | leukocyte mediated immunity | regulation of catalytic activity | regulation of phosphorylation | somatic recombination of immunoglobulin gene segments | positive regulation of chromosome organization | signal transduction in response to DNA damage | cellular response to stress | nervous system process | DNA double-strand break processing | cell cycle | regulation of protein autophosphorylation | positive regulation of cellular metabolic process | positive regulation of protein phosphorylation | regulation of nitrogen compound metabolic process | regulation of DNA-dependent DNA replication initiation | B cell activation | cell proliferation | biosynthetic process | regulation of cellular protein metabolic process | regulation of DNA-dependent DNA replication | DNA duplex unwinding | DNA strand elongation | chordate embryonic development | cell communication | regulation of cellular metabolic process | cell activation involved in immune response | regulation of protein metabolic process | homeostatic process | regulation of protein phosphorylation | embryo development ending in birth or egg hatching | negative regulation of telomere maintenance | apoptotic signaling pathway | regulation of mitotic cell cycle | DNA helicase activity | lymphocyte activation | positive regulation of molecular function | mitotic G2/M transition checkpoint | positive regulation of protein modification process | telomeric 3' overhang formation | cell cycle arrest | regulation of kinase activity | DNA metabolic process | anatomical structure development | mitotic cell cycle | metabolic process | immunoglobulin production involved in immunoglobulin mediated immune response | immunoglobulin production | somatic diversification of immunoglobulins | negative regulation of mitotic cell cycle | immune response | nucleobase-containing compound metabolic process | organic substance metabolic process | cell death | positive regulation of kinase activity | regulation of phosphate metabolic process | regulation of chromosome organization | blastocyst development | cell activation | negative regulation of cell cycle | somatic recombination of immunoglobulin genes involved in immune response | meiotic cell cycle | negative regulation of chromosome organization | signaling | neuromuscular process | B cell activation involved in immune response | positive regulation of phosphorylation | somatic cell DNA recombination | telomere maintenance via telomere trimming | cellular macromolecule biosynthetic process | B cell mediated immunity | positive regulation of telomere maintenance | positive regulation of DNA metabolic process | negative regulation of telomere capping | recombinational repair | developmental process | organelle organization | blastocyst growth | positive regulation of protein autophosphorylation | DNA conformation change | heterocycle metabolic process | in utero embryonic development | positive regulation of metabolic process | chromosome organization | isotype switching | immunoglobulin mediated immune response | immune system process | mitotic cell cycle checkpoint | cellular metabolic process | negative regulation of cell cycle process | DNA damage checkpoint | cell cycle checkpoint | signal transduction by p53 class mediator | DNA replication | regulation of cellular component organization | signal transduction | macromolecule metabolic process | multicellular organismal process | regulation of phosphorus metabolic process

GO Cellular Component

nuclear inclusion body | site of DNA damage | chromosome | intracellular membrane-bounded organelle | cell | nuclear lumen | replication fork | nucleolus | cytoplasm | intracellular organelle | nuclear body | inclusion body | protein-containing complex | PML body | nucleoplasm | nuclear chromosome | chromosome, telomeric region | site of double-strand break | membrane-bounded organelle | nucleus | organelle | membrane-enclosed lumen | cytosol | nuclear chromosome, telomeric region | intracellular | Mre11 complex