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: | RUVBL1 |
| Gene Name: | RUVBL1 |
| Protein Full Name: | RuvB-like 1 |
| Alias: | 49 kDa TATA box-binding protein-interacting protein |
| Mass (Da): | 50210 |
| Number AA: | 456 |
| UniProt ID: | Q9Y265 |
| Locus ID: | 8607 |
| COSMIC ID: | RUVBL1 |
| Gene location on chromosome: | 3q21.3 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19718 |
| Percent of cancer specimens with mutations: | 0.31 |
| Found in amplified chromosomal regions in human cancers: | Amplification of 3q21 in small cell lung cancer |
| Normal role description: | RUVBL1 is single-stranded-DNA-stimulated ATPase and an ATP-dependent DNA helicase (3' to 5'). RUVBL1 is a positive regulator of the c-Myc and beta-catenin pro-gowth pathways. Upregulation of this gene has been obeserved in colon, blood, lung, and liver tumors. Upregulation via chromosomal amplicification has also been obeserved in non small-cell lung cancer. |