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: | RARA |
| Gene Name: | RARA |
| Protein Full Name: | Retinoic acid receptor alpha |
| Alias: | Nuclear receptor subfamily 1 group B member 1 |
| Mass (Da): | 50771 |
| Number AA: | 462 |
| UniProt ID: | P10276 |
| Locus ID: | 5914 |
| COSMIC ID: | RARA |
| Gene location on chromosome: | 17q12 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20352 |
| Percent of cancer specimens with mutations: | 0.38 |
| Deregulated in translocations: | Translocation t(15;17)(q22;q12) -->PML - RARA; t(11;17)(q23;q12) -->PLZF-RARA; t(5;17)(q35;q12) --> NPM-RARA; t(11;17)(q13;q12) --> NuMA-RARA; t(11;17)(q32;q21) --> RARA- ZBTB16/PLZF; and t(11;17)(q23;21) --> RARA-PLZF in acute promyelocytic leukemia. Tra |
| Normal role description: | RARA is part of the nuclear retinoic acid receptor and is responsible for regulating transcription in a ligand-dependent manner via binding to retinoic acid response elements (RARE). It has been implicated in the regulation of retinoic acid-induced germ cell development during spermatogenesis, the survival and development of early spermatocytes at the beginning of prophase of meiosis, retinoic acid-induced granulopoiesis, development, differentiation, apoptosis, and in the transcription of clock genes. Translocations between this gene and several others are associated with acute promyelocytic leukemia. |
| Commentary on involvement of protein in cancer: | 1/185 breast-, 1/145 lung-, and 1/59 ovarian cancer samples were mutated (Sanger COSMIC) |