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: | RB1CC1 |
| Gene Name: | RB1CC1 |
| Protein Full Name: | RB1-inducible coiled-coil protein 1 |
| Alias: | 200 kDa FAK family kinase-interacting protein; Cc1; DRAGOU14; FIP200; KIAA0203; Rb1-inducible coiled coil protein; RB1-inducible coiled-coil 1; RBCC1; RBICC |
| Mass (Da): | 183091 |
| Number AA: | 1594 |
| UniProt ID: | Q8TDY2 |
| Locus ID: | 9821 |
| COSMIC ID: | RB1CC1 |
| Gene location on chromosome: | 8q11.23 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19818 |
| Percent of cancer specimens with mutations: | 1.24 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations and 2 deletions over entire protein length, but no complex muations or insertions. |
| Normal role description: | Implicated in the regulation of RB1 expression. Functions as a DNA-binding transcription factor. Unregulates RB1 expression and therefore also functions as a TSP. Mutations in breast cancer demonstrate loss of function supporting this hypothesis. |