Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | SMG6 |
| Gene Name: | SMG6 |
| Protein Full Name: | Telomerase-binding protein EST1A |
| Alias: | C17orf31; EST1 telomerase component A; EST1A; EST1-like protein A; Est1p-like protein A; Ever shorter telomeres 1A; KIAA0732; SMG-6; Smg-6, nonsense mediated mRNA decay factor; Telomerase subunit EST1A |
| Mass (Da): | 160462 |
| Number AA: | 1419 |
| UniProt ID: | Q86US8 |
| Locus ID: | 23293 |
| COSMIC ID: | SMG6 |
| Gene location on chromosome: | 17p13.3 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19806 |
| Percent of cancer specimens with mutations: | 0.87 |
| Normal role description: | SMG6 is a component of the telomerase ribonucleoprotein (RNP) holoenzyme complex that is essential for the replication of chromosome termini. It may play a role in telomere regulation, and has been found to promote the ability of TERT (one of the proteins in the RNP complex) to elongate telomeres in vitro. Overexpression of the gene results in telomere uncapping and chromosomal end-to-end fusions. It also plays a role in nonsense-mediated mRNA decay, and is thought to provide a link to the mRNA degradation machinery (ssRNA only), and to serve as an adapter for UPF1 to PP2A and thereby triggering UPF1 dephosphorylation. |