Gene Symbol | Nbn |
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Entrez Gene | 27354 |
Alt Symbol | Nbs1 |
Species | Mouse |
Gene Type | protein-coding |
Description | nibrin |
Other Description | cell cycle regulatory protein p95|nijmegen breakage syndrome protein 1 homolog |
Swissprots | Q9R1X1 Q811I6 O88981 Q9R207 Q8CCY0 Q3UY57 |
Accessions | EDL05594 Q9R207 AB016988 BAA76298 AF076687 AAD20943 AF092840 AAC62113 AK031933 BAC27610 AK132302 AK134805 AK134960 BAE22356 AK159790 AK160614 AK183777 AK206526 AK214489 BC003719 BC013190 BC044773 AAH44773 BC055061 AAH55061 XM_006537970 XP_006538033 XM_006537971 XP_006538034 NM_013752 NP_038780 |
Function | Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by generating the 3' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major player in the control of |
Subcellular Location | Nucleus. Nucleus, PML body {ECO:0000250}. Chromosome, telomere {ECO:0000250}. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents. {ECO:0000250}. |
Tissue Specificity | High expression in the liver, heart and testis. Low expression in all other tissues analyzed. In the cerebellum the postmitotic Purkinje cells are marked specifically. {ECO:0000269|PubMed:10915761}. |
Top Pathways | Homologous recombination |
Recombinant Artemin (ARTN) - RPJ596Mu01 from Cloud-clone
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Recombinant Mouse Nibrin(Nbn) - CSB-YP015486MO CSB-EP015486MO CSB-BP015486MO CSB-MP015486MO from Cusabio
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Nibrin (Nbn), Recombinant Protein - MBS1482456 from MyBioSource
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