Human Gene NSMCE2 (ENST00000287437.8) Description and Page Index
Description: Homo sapiens NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase (NSMCE2), transcript variant 5, non-coding RNA. (from RefSeq NR_146191) RefSeq Summary (NM_173685): This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. [provided by RefSeq, Mar 2017]. Gencode Transcript: ENST00000287437.8 Gencode Gene: ENSG00000156831.8 Transcript (Including UTRs) Position: hg38 chr8:125,091,860-125,367,120 Size: 275,261 Total Exon Count: 8 Strand: + Coding Region Position: hg38 chr8:125,102,331-125,366,885 Size: 264,555 Coding Exon Count: 6
ID:NSE2_HUMAN DESCRIPTION: RecName: Full=E3 SUMO-protein ligase NSE2; EC=6.3.2.-; AltName: Full=MMS21 homolog; Short=hMMS21; AltName: Full=Non-structural maintenance of chromosomes element 2 homolog; Short=Non-SMC element 2 homolog; 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 repair, and for formation of APBs in ALT cell lines. Required for sister chromatid cohesion during prometaphase and mitotic progression. PATHWAY: Protein modification; protein sumoylation. SUBUNIT: Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NDNL2. INTERACTION: Q96SB8:SMC6; NbExp=2; IntAct=EBI-2557388, EBI-605415; SUBCELLULAR LOCATION: Nucleus. Chromosome, telomere. Note=Localizes to PML nuclear bodies in ALT cell lines. PTM: Sumoylated, possibly via autosumoylation. SIMILARITY: Belongs to the NSE2 family. SIMILARITY: Contains 1 SP-RING-type zinc finger.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96MF7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.