| Gene Symbol |
NSMCE2
|
| Entrez Gene |
286053
|
| Alt Symbol |
C8orf36, MMS21, NSE2, ZMIZ7
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
non-SMC element 2, MMS21 homolog (S. cerevisiae)
|
| Other Description |
E3 SUMO-protein ligase NSE2|MMS21 homolog|hMMS21|methyl methanesulfonate sensitivity gene 21|non-SMC element 2 homolog|non-structural maintenance of chromosomes element 2 homolog|zinc finger, MIZ-type containing 7
|
| Swissprots |
Q96MF7 Q8N549
|
| Accessions |
CAC38636 EAW92083 EAW92084 Q96MF7 AA580621 AK057002 BAB71338 BC032797 AAH32797 CB217595 HQ447112 ADQ31599 XM_005250875 XP_005250932 XM_005250876 XP_005250933 XM_011516974 XP_011515276 XM_011516975 XP_011515277 NM_173685 NP_775956
|
| Function |
E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination. Is not be required for the stability of the complex. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Acts as a E3 ligase mediating SUMO attachment to various proteins such as SMC6L1 and TRAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, and maybe the cohesin components RAD21 and STAG2. Required for recruitment of telomeres to PML nuclear bodies. SUMO protein-ligase activity is required for the prevention of DNA damage-induced apoptosis by facilitating DNA repai
|
| Subcellular Location |
Nucleus. Chromosome, telomere. Note=Localizes to PML nuclear bodies in ALT cell lines.
|