Nibrin

NBN
Identifiers
Aliases	NBN, AT-V1, AT-V2, ATV, NBS, NBS1, P95, nibrin
External IDs	OMIM: 602667 MGI: 1351625 HomoloGene: 1858 GeneCards: NBN
Gene ontology Molecular function • protein N-terminus binding • ATP-dependent DNA helicase activity • transcription factor binding • protein binding • damaged DNA binding Cellular component • site of double-strand break • cytosol • PML body • replication fork • nucleoplasm • chromosome • chromosome, telomeric region • nucleolus • nuclear inclusion body • nuclear chromosome, telomeric region • nucleus • Mre11 complex Biological process • regulation of DNA-dependent DNA replication initiation • neuromuscular process controlling balance • mitotic cell cycle checkpoint • positive regulation of kinase activity • telomeric 3' overhang formation • DNA damage checkpoint • DNA damage response, signal transduction by p53 class mediator • in utero embryonic development • cellular response to DNA damage stimulus • intrinsic apoptotic signaling pathway • positive regulation of telomere maintenance • negative regulation of telomere capping • DNA duplex unwinding • meiotic cell cycle • cell cycle arrest • positive regulation of protein autophosphorylation • isotype switching • cell cycle • blastocyst growth • cell proliferation • mitotic G2 DNA damage checkpoint • double-strand break repair via nonhomologous end joining • telomere maintenance • double-strand break repair via homologous recombination • DNA synthesis involved in DNA repair • DNA repair • regulation of signal transduction by p53 class mediator • strand displacement • DNA replication • double-strand break repair • DNA double-strand break processing • t-circle formation • telomere maintenance via telomere trimming Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4683	27354
Ensembl	ENSG00000104320	ENSMUSG00000028224
UniProt	O60934	Q9R207
RefSeq (mRNA)	NM_001024688 NM_002485	NM_013752
RefSeq (protein)	NP_001019859 NP_002476	NP_038780.3 NP_038780
Location (UCSC)	Chr 8: 89.93 – 90 Mb	Chr 4: 15.96 – 15.99 Mb
PubMed search

4683

27354

ENSG00000104320

ENSMUSG00000028224

O60934

Q9R207

NM_001024688
NM_002485

NM_013752

NP_001019859
NP_002476

NP_038780.3
NP_038780

Nibrin, also known as NBN or NBS1, is a protein which in humans is encoded by the NBN gene.

Nibrin is a protein associated with the repair of double strand breaks (DSBs) which pose serious damage to a genome. It is a 754 amino acid protein identified as a member of the NBS1/hMre11/RAD50(N/M/R, more commonly referred to as MRN) double strand DNA break repair complex. This complex recognizes DNA damage and rapidly relocates to DSB sites and forms nuclear foci. It also has a role in regulation of N/M/R (MRN) protein complex activity which includes end-processing of both physiological and mutagenic DNA double strand breaks (DSBs).

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Wikipedia