NSMCE2


Description

The NSMCE2 (NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase) is a protein-coding gene located on chromosome 8.

NSMCE2 is an E3 SUMO-protein ligase that is involved in DNA repair, telomere maintenance, and sister chromatid cohesion. It is a component of the SMC5-SMC6 complex, which is involved in homologous recombination repair of DNA double-strand breaks.

NSMCE2 is an E3 SUMO-protein ligase component of the SMC5-SMC6 complex. This complex plays a role in DNA double-strand break repair through homologous recombination. NSMCE2 is not essential for the stability of the SMC5-SMC6 complex. The complex promotes sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. It is also involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex components, potentially leading to shelterin complex disassembly in ALT-associated PML bodies (APBs). NSMCE2 acts as an E3 ligase, attaching SUMO to various proteins including SMC6L1, TSNAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, RAD51AP1, and possibly the cohesin components RAD21 and STAG2. It is required for telomere recruitment to PML nuclear bodies. SUMO protein-ligase activity of NSMCE2 is crucial for preventing DNA damage-induced apoptosis by facilitating DNA repair and for the formation of APBs in ALT cell lines. NSMCE2 is essential for sister chromatid cohesion during prometaphase and mitotic progression.

NSMCE2 is also known as C8orf36, MMS21, NSE2, ZMIZ7.

Associated Diseases


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