SMG6 Gene Summary [Human]
This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]
Details
| Type | Retained Intron |
| Official Symbol | SMG6 |
| Official Name | SMG6 nonsense mediated mRNA decay factor [Source:HGNC Symbol;Acc:HGNC:17809] |
| Ensembl ID | ENSG00000070366 |
| Bio databases IDs | |
| Aliases | SMG6 nonsense mediated mRNA decay factor, EST1 telomerase component homolog A (S. cerevisiae) |
| Synonyms | AI317223, C17orf31, EST1A, hEST1A, hSMG5/7a, LRRGT00040, RGD1309609, SMG6 nonsense mediated mRNA decay factor |
| 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 SMG6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Telomerase activating protein Est1
- Est1 DNA/RNA binding domain
- PIN domain
- ribonucleoprotein binding
- enzyme binding
- Large family of predicted nucleotide-binding domains
- endoribonuclease
- enzyme
- protein binding
- PIN (PilT N terminus) domain: Superfamily
- telomeric DNA binding
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- coronary artery disease
- osteoarthritis
- schizophrenia
- insomnia
- open-angle glaucoma
- myocardial infarction
- gastroesophageal reflux
- angina pectoris
- primary snoring
regulates
role in cell
- maintenance
- fusion
- length
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
- Cytoplasm
- Plasma Membrane
- basal bodies
- cytosol
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMG6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mRNA export from nucleus
- regulation of telomerase activity
- nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
- regulation of telomere maintenance via telomerase
- regulation of dephosphorylation
- regulation of telomere maintenance
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromosome, telomeric region
- exon-exon junction complex
- cytoplasm
- cytosol
- telomerase holoenzyme complex
- nucleolus
Molecular Function
What the gene product does at the molecular level
- DNA polymerase binding
- protein binding
- RNA binding
- telomeric RNA binding
- telomeric DNA binding
- metal ion binding
- ribonucleoprotein complex binding
- endoribonuclease activity