NSMCE2
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 an 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 repair, and for formation of APBs in ALT cell lines. Required for sister chromatid cohesion during prometaphase and mitotic progression. Belongs to the NSE2 family. Note: This description may include information from UniProtKB.
|
Protein type: EC 6.-.-.-; EC 6.3.2.-; Ligase; SUMO conjugating system; SUMO ligase; Ubiquitin ligase |
Chromosomal Location of human Ortholog: 8q24.13 |
Cellular Component:
chromosome, telomeric region; nuclear body; nucleoplasm; nucleus; PML body; Smc5-Smc6 complex
|
Molecular Function:
protein binding; SUMO ligase activity; SUMO transferase activity; zinc ion binding
|
Biological Process:
cell cycle; cell division; cellular senescence; double-strand break repair via homologous recombination; double-strand break repair via nonhomologous end joining; positive regulation of maintenance of mitotic sister chromatid cohesion; positive regulation of mitotic metaphase/anaphase transition; protein sumoylation; regulation of telomere maintenance; telomere maintenance via recombination
|
Disease: Seckel Syndrome 10
|
Reference #:
Q96MF7
(UniProtKB)
|
Alt. Names/Synonyms: C8orf36; E3 SUMO-protein ligase NSE2; E3 SUMO-protein transferase NSE2; FLJ32440; hMMS21; methyl methanesulfonate sensitivity gene 21; MMS21; MMS21 homolog; Non-SMC element 2 homolog; non-SMC element 2, MMS21 homolog; non-SMC element 2, MMS21 homolog (S. cerevisiae); Non-structural maintenance of chromosomes element 2 homolog; NSE2; NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase; NSMCE2; NSMCE2/PVT1 fusion; PVT1/NSMCE2 fusion; zinc finger, MIZ-type containing 7; ZMIZ7
|
Gene Symbols: NSMCE2
|
Molecular weight:
27,932 Da
|
Basal Isoelectric point:
7.62
Predict pI for various phosphorylation states
|