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: | SRGAP3 |
| Gene Name: | SRGAP3 |
| Protein Full Name: | SLIT-ROBO Rho GTPase-activating protein 3 |
| Alias: | KIAA0411; MEGAP; Mental disorder-associated GAP; Rho GTPase-activating 14; Rho GTPase-activating protein 14; SLIT-ROBO rho GTPase activating 2; SLIT-ROBO rho GTPase activating 3; SLIT-ROBO Rho GTPase activating protein 3; SLIT-ROBO Rho GTPase-activating 3; SRGAP2; SrGAP2; SRGP2; WAVE-associated Rac GTPase activating; WAVE-associated Rac GTPase-activating; WAVE-associated Rac GTPase-activating protein; WRP |
| Mass (Da): | 124504 |
| Number AA: | 1099 |
| UniProt ID: | O43295 |
| Locus ID: | 9901 |
| COSMIC ID: | SRGAP3 |
| Gene location on chromosome: | 1q32.1; 3p25.3 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20042 |
| Percent of cancer specimens with mutations: | 1.23 |
| Commonly recorded point mutations: | R559* (17) |
| Deregulated in translocations: | pilocytic astrocytoma, fusion partner is Raf1. |
| Normal role description: | SRGAP3 is a GTPase activating protein for Rac1 monomeric G-proteins. SRGAP3 was found to have high specificity for RAC1 but not for other Rho family GTPases. SRGAP3 activates the GTPase activity of RAC1 to convert it from an activated GTP bound state to an inactive GDP bound state. SRGAP3 may negatively regulate cell growth and cytoskeletal reorganization through its interaction with RAC1. The SRGAP3 gene locus can participate in a translocation event to create a fusion protein with Raf1 protein kinase. This fusion protein has been implicated in the development of pilocytic astrocytoma, benign tumours of the brain. The SRGAP3-Raf1 fusion protein was found to have enhanced kinase activity to Mek1 protein kinase which activates MAPK signalling pathways to promote cell growth. |
| Commentary on involvement of protein in cancer: | SRGAP2 is equivalent to SRGAP3. Less than 3% mutation in breast. |