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: | RASA1 |
| Gene Name: | RASA1 |
| Protein Full Name: | Ras GTPase-activating protein 1 |
| Alias: | Capillary malformation-arteriovenous malformation; CM-AVM; GAP; GTPase-activating protein; P120GAP; P120RASGAP; Ras p21 protein activator; RAS p21 protein activator (GTPase activating protein) 1; RASA |
| Mass (Da): | 116403 |
| Number AA: | 1047 |
| UniProt ID: | P20936 |
| Locus ID: | 5921 |
| COSMIC ID: | RASA1 |
| Gene location on chromosome: | 5q13.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20270 |
| Percent of cancer specimens with mutations: | 0.92 |
| Normal role description: | RASA1 is part of the GAP1 family of GTPase-activating proteins. RASA1 stimulates the GTPase activity of normal RAS p21, but not its oncogenic counterpart; thus it normally acts as a tumour suppressor by inactivating RAS. Missense and nonsense mutations have been found in a large proportion of upper aerodigestive tract (mouth, larynx, and neck) tumors. |
| Commentary on involvement of protein in cancer: | Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1. |