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: | RB1 |
| Gene Name: | RB1 |
| Protein Full Name: | Retinoblastoma-associated protein |
| Alias: | P105-Rb; Pp110; PRb |
| Mass (Da): | 106159 |
| Number AA: | 928 |
| UniProt ID: | P06400; P78495; Q6LE76; Q6LE77; Q6LE79; Q6LE80; Q6LE81; Q6LE82; Q86WG4; Q92727 |
| Locus ID: | 5925 |
| COSMIC ID: | RB1 |
| Gene location on chromosome: | 13q14 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 25684 |
| Percent of cancer specimens with mutations: | 3.17 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, complex mutations, insertions and deletions over entire protein length. |
| Mutations observed as inherited: | Familial retinoblastomas and osteosarcomas. |
| Gene undergoes hypermethylation: | Retinoblastomas. |
| Normal role description: | Rb plays a central role in the negative regulation of the cell cycle. Rb is also known to stabilizes constitutive heterochromatin and thereby help maintain the overall chromatin structure. When hypophosphorylated, Rb represses the action of E2Fs, which results in the inhibition of pro-growth gene trancription, such as: cyclin E and A, as well as c-Myc. Mutations in this gene have been found in a multitude of cancers. Mutations in this gene are typically associated with retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. |