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: | GAK |
| Gene Name: | GAK |
| Protein Full Name: | Cyclin-G-associated kinase |
| Alias: | Cyclin G associated kinase; EC 2.7.11.1; Kinase GAK |
| Mass (Da): | 143191 |
| Number AA: | 1311 |
| UniProt ID: | O14976 |
| Locus ID: | 2580 |
| COSMIC ID: | GAK |
| Gene location on chromosome: | 4p16.3 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20079 |
| Percent of cancer specimens with mutations: | 0.97 |
| Normal role description: | GAK is a protein-serine/threonine kinase that functions as an association-partner of cyclin G, a downstream target of p53; and CDK5. The gene is involved in the uncoating of clathrin-coated vesicles by Hsc70 in non-neuronal cells. There may be an association between GAK gene variations and susceptibility to developing Parkinson disease. |
| Commentary on involvement of protein in cancer: | 1/74 CNS tumour- and 2/225 lung cancer samples were also mutated (Sanger COSMIC) |