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: | RSPO1 |
| Gene Name: | RSPO1 |
| Protein Full Name: | R-spondin-1 |
| Alias: | Roof plate-specific spondin-1 |
| Mass (Da): | 28959 |
| Number AA: | 263 |
| UniProt ID: | Q2MKA7 |
| Locus ID: | 284654 |
| COSMIC ID: | RSPO1 |
| Gene location on chromosome: | 1p34.3 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19557 |
| Percent of cancer specimens with mutations: | 0.36 |
| Mutations observed as inherited: | 896insG and 2752 bp deletion in exon 4 associated with squamous cell carcinoma of the skin |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | RSPO1 is a secreted activator of the beta-catenin signalling cascade in both the Wnt/beta-catenin-dependent and the Wnt-independent beta-catenin pathway. In mice, it can induce crypt cell proliferation and intestinal epithelial healing via the Wnt-dependent pathway. It may have a role in negatively regulating TGF-beta signalling. It has an essential role in ovary determination. Although its function in cancer has yet to be determined, defects such as the 896insG and the 2752 bp deletion in exon 4 have been associated with squamous cell carcinoma of the skin. |