NBN — Nibrin
NBN belongs to a gene co-expression module in 2 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
NBN's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| Lymphatic endothelial | Genotoxic Innate Inflammation Inflammation | CSF2, CSF3, E2F7, GBP2, PLA1A, RIPK2, SELENOM, SQOR +1 more | View in SCUBA |
| Neutrophils | NF-κB Activation Inflammatory | EHD1, GRAMD1A, NFKB2, NFKBIA, NFKBIZ, PLAUR, PLEK, PLK3 +6 more |
About the gene
| Synonyms | AT-V1, AT-V2, ATV, NBS, NBS1 |
|---|---|
| Chromosome | 8: 89924515-90003228 |
| Predicted location | Intracellular |
| Essential gene | No |
| Protein class | Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins |
| Biological process | Cell cycle, DNA damage, DNA repair, Host-virus interaction, Meiosis |
Function
Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases. The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage. The MRN complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11, to initiate end resection, which is required for single-strand invasion and recombination. Within the MRN complex, NBN acts as a protein-protein adapter, which specifically recognizes and binds phosphorylated proteins, promoting their recruitment to DNA damage sites. Recruits MRE11 and RAD50 components of the MRN complex to DSBs in response to DNA damage. Promotes the recruitment of PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites, activating their functions. Mediates the recruitment of phosphorylated RBBP8/CtIP to DSBs, leading to cooperation between the MRN complex and RBBP8/CtIP to initiate end resection. RBBP8/CtIP specifically promotes the endonuclease activity of the MRN complex to clear DNA ends containing protein adducts. The MRN complex is also required for the processing of R-loops. NBN also functions in telomere length maintenance via its interaction with TERF2: interaction with TERF2 during G1 phase preventing recruitment of DCLRE1B/Apollo to telomeres. NBN also promotes DNA repair choice at dysfunctional telomeres: NBN phosphorylation by CDK2 promotes non- homologous end joining repair at telomeres, while unphosphorylated NBN promotes microhomology-mediated end-joining (MMEJ) repair. Enhances AKT1 phosphorylation possibly by association with the mTORC2 complex.
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.