| Gene Symbol |
NBN
|
| Entrez Gene |
4683
|
| Alt Symbol |
AT-V1, AT-V2, ATV, NBS, NBS1, P95
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
nibrin
|
| Other Description |
Nijmegen breakage syndrome 1 (nibrin)|cell cycle regulatory protein p95|p95 protein of the MRE11/RAD50 complex
|
| Swissprots |
Q53FM6 B2RNC5 B2R626 Q7LDM2 Q32NF7 O60934 Q63HR6 O60672
|
| Accessions |
AAC62232 AAS59158 AEX07903 AGW81285 AGW81286 AGW81287 AGW81288 AGW81289 AGW81290 AGW81291 BAA28616 CAI45369 EAW91660 EAW91661 O60934 AF051334 AAC39732 AF058696 AAC39752 AK001017 AK223256 BAD96976 AK289848 BAF82537 AK312410 BAG35323 BC005293 BC016762 AAH16762 BC040519 BC071590 BC108650 AAI08651 BC136802 AAI36803 BC136803 AAI36804 BC143065 AAI43066 BC143066 AAI43067 BC144413 BC146797 AAI46798 BX640816 CAH56160 DA634817 XM_005250923 XP_005250980 XM_011517044 XP_011515346 XM_011517045 XP_011515347 XM_011517046 XP_011515348 XR_928335 NM_001024688 NP_001019859 NM_002485 NP_002476
|
| 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 {ECO:0000250}. Nucleus, PML body {ECO:0000269|PubMed:12470659, ECO:0000269|PubMed:15916964}. Chromosome, telomere {ECO:0000250}. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents. {ECO:0000250}.
|
| Tissue Specificity |
Ubiquitous. Expressed at high levels in testis.
|
| Top Pathways |
Homologous recombination
|