SMC6 Gene Summary [Human]
Enables ubiquitin protein ligase binding activity. Involved in several processes, including cellular senescence; positive regulation of chromosome segregation; and telomere maintenance via recombination. Located in chromosome and nuclear body. Part of Smc5-Smc6 complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | SMC6 |
| Official Name | structural maintenance of chromosomes 6 [Source:HGNC Symbol;Acc:HGNC:20466] |
| Ensembl ID | ENSG00000163029 |
| Bio databases IDs | |
| Aliases | structural maintenance of chromosomes 6 |
| Synonyms | 2810489L22Rik, 3830418C19Rik, AA990493, AW742439, D19Mgi11, FLJ22116, hSMC6, mKIAA4103, mSmc6, SMC6L1, structural maintenance of chromosomes 6 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SMC6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RecF/RecN/SMC N terminal domain
- ubiquitin protein ligase binding
- chromosome segregation protein SMC, primarily archaeal type
- TPR/MLP1/MLP2-like protein
- exonuclease SbcC
- DNA secondary structure binding
- helix-rich Mycoplasma protein
- protein binding
- Bin/Amphiphysin/Rvs domain
- AAA domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- hypothyroidism
- Hutchinson-Gilford progeria syndrome
role in cell
- number
- cell survival
- distribution in
- DNA damage response
- segregation in
- senescence in
- telomeric mitotic DNA synthesis in
- segregation
- mitotic catastrophe
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- chromosome
- interchromatin granules
- nucleoplasm
- spindle pole
- interchromatin granule clusters
- PML nuclear bodies
- centromeres
- telomeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMC6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of chromosome segregation
- protein sumoylation
- cellular senescence
- double-strand break repair via homologous recombination
- telomere maintenance via recombination
- response to DNA damage stimulus
- regulation of telomere maintenance
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromosome, telomeric region
- site of double-strand break
- PML body
- nuclear speck
- sex chromosome
- Smc5-Smc6 complex
- interchromatin granule
- chromosome, centromeric region
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding
- ubiquitin protein ligase binding
- DNA secondary structure binding
- damaged DNA binding
- single-stranded DNA binding