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: | RASSF1 |
| Gene Name: | RASSF1 |
| Protein Full Name: | Ras association domain-containing protein 1 |
| Alias: | 123F2; NORE2A; Ras association (RalGDS/AF-6) domain family member 1; RASF1; RDA32; REH3P21 |
| Mass (Da): | 39220 |
| Number AA: | 344 |
| UniProt ID: | Q9NS23 |
| Locus ID: | 11186 |
| COSMIC ID: | RASSF1 |
| Gene location on chromosome: | 3p21.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19965 |
| Percent of cancer specimens with mutations: | 0.21 |
| Gene undergoes hypermethylation: | The gene promoter was found hypermetylated in 90 % of primary kidney tumors and 40 % of lung tumors. Hypermethylation and loss of transcription were causally related |
| Normal role description: | Required for death receptor-dependent apoptosis. Mediates activation of STK3/MST2 and STK4/MST1 during Fas-induced apoptosis by preventing their dephosphorylation. When associated with MOAP1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation. Inhibits proliferation by negatively regulating cell cycle progression at the level of G1/S-phase transition by regulating accumulation of cyclin D1 protein (UniProt quote). Hypermethylation of promoter leads to downregulation of gene expression in cancer. Likely a TSP on the basis of its role in pro-apoptosis and empirically demonstrated downregulation in cancer. |