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: | APAF1 |
| Gene Name: | APAF1 |
| Protein Full Name: | Apoptotic protease-activating factor 1 |
| Alias: | APAF1; Apaf-1; Apoptotic peptidase activating factor 1; Apoptotic protease activating factor 1; CED4; KIAA0413 |
| Mass (Da): | 141840 |
| Number AA: | 1248 |
| UniProt ID: | O14727 |
| Locus ID: | 317 |
| COSMIC ID: | APAF1 |
| Gene location on chromosome: | 12q23 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19719 |
| Percent of cancer specimens with mutations: | 0.88 |
| Gene undergoes hypermethylation: | Melanomas. |
| Normal role description: | Pro-apoptotic protein induces caspase activation. Loss of heterozygosity (LOH) in this gene is assciated with many neoplasms. |