Human Gene SMC6 (ENST00000402989.5) from GENCODE V44
Description: Core component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. 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). Required for recruitment of telomeres to PML nuclear bodies. (from UniProt Q96SB8) Gencode Transcript: ENST00000402989.5 Gencode Gene: ENSG00000163029.16 Transcript (Including UTRs) Position: hg38 chr2:17,665,447-17,800,195 Size: 134,749 Total Exon Count: 30 Strand: - Coding Region Position: hg38 chr2:17,665,499-17,745,946 Size: 80,448 Coding Exon Count: 26
ID:SMC6_HUMAN DESCRIPTION: RecName: Full=Structural maintenance of chromosomes protein 6; Short=SMC protein 6; Short=SMC-6; Short=hSMC6; FUNCTION: Core component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. 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). Required for recruitment of telomeres to PML nuclear bodies. SUBUNIT: Forms a heterodimer with SMC5. Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NDNL2. INTERACTION: Q8WV22:NSMCE1; NbExp=7; IntAct=EBI-605415, EBI-2557372; Q96MF7:NSMCE2; NbExp=2; IntAct=EBI-605415, EBI-2557388; Q8IY18:SMC5; NbExp=3; IntAct=EBI-605415, EBI-605405; SUBCELLULAR LOCATION: Nucleus. Chromosome. Chromosome, telomere. Note=Associates with chromatin. Localizes to PML nuclear bodies in ALT cell lines. TISSUE SPECIFICITY: Widely expressed. Overexpressed in testis. DOMAIN: The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC5, forming a V- shaped heterodimer (By similarity). PTM: Sumoylated by NSMCE2/MMS21. PTM: Ubiquitinated. SIMILARITY: Belongs to the SMC family. SMC6 subfamily. SEQUENCE CAUTION: Sequence=AAH32675.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAB15236.1; Type=Frameshift; Positions=718;
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.
Pfam Domains: PF02463 - RecF/RecN/SMC N terminal domain
ModBase Predicted Comparative 3D Structure on Q96SB8
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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.
US Server
