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: | ARHGEF1 |
| Gene Name: | ARHGEF1 |
| Protein Full Name: | Rho guanine nucleotide exchange factor 1 |
| Alias: | 115 kDa guanine nucleotide exchange factor; ARHG1; GEF1; LBCL2; P115RhoGEF; P115-RhoGEF |
| Mass (Da): | 102435 |
| Number AA: | 912 |
| UniProt ID: | Q92888 |
| Locus ID: | 9138 |
| COSMIC ID: | ARHGEF1 |
| Gene location on chromosome: | 19q13.13 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19781 |
| Percent of cancer specimens with mutations: | 0.82 |
| Normal role description: | ARHGEF1 functions as a GNEF and modulates the activity of Rho GTPases, which are involved in cytoskeleton rearrangement. It is specifically responsible for angiotensin receptor-1-mediated RhoA activation and is involved in the development of angiotensin II-dependent hypertension. It can also function as a GAP for GNA12 and GNA13, possibly indicating a dual role in cancer development for this gene. However, it is generally considered to be a proto-oncogene |