NBS1

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 • Q40260 • 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
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

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).

Cellular response is performed by damage sensors, effectors of lesion repair and signal transduction. The central role is carried out by ataxia telangiectasia mutated (ATM) by activating the DSB signaling cascade, phosphorylating downstream substrates such as histone H2AX and NBS1. NBS1 relocates to DSB sites by interaction of FHA/BRCT domains with phosphorylated histone H2AX. Once it interacts with nibrin c-terminal hMre11-binding domain, hMre11 and hRad50 relocate from the cytoplasm to the nucleus then to sites of DSBs. They finally relocate to N/M/R where they form the foci at the site of damage.

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Wikipedia