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: | TERT |
| Gene Name: | TERT |
| Protein Full Name: | Telomerase reverse transcriptase |
| Alias: | HEST2;Telomerase catalytic subunit;Telomerase-associated protein 2 |
| Mass (Da): | 126997 |
| Number AA: | 1132 |
| UniProt ID: | O14746; Q9UBR6 |
| Locus ID: | 7015 |
| COSMIC ID: | TERT |
| Gene location on chromosome: | 5p15.33 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 38102 |
| Percent of cancer specimens with mutations: | 13.54 |
| Normal role description: | TERT is a reverse transcriptase and component of the telomerase complex required for replication of telomeres at chromosome termini. TERT will catalyze the extension of the 3' end of chromosome termini using an RNA template. Telomerase have also been found to be involved in DNA repair at telomere regions. The shortening of telomeres caused by cell division has been proposed to be the cause of aging and tissue degeneration. Increased telomerase activity is implicated in cell immortalization and cancer progression through promoting chromosome integrity after many cell division cycles. |
| Commentary on involvement of protein in cancer: | Less than 3% mutations in CNS and lung. |