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: | CSMD1 |
| Gene Name: | CSMD1 |
| Protein Full Name: | CUB and sushi domain-containing protein 1 |
| Alias: | CUB and sushi multiple domains protein 1 |
| Mass (Da): | 388869 |
| Number AA: | 3565 |
| UniProt ID: | Q96PZ7 |
| Locus ID: | 64478 |
| COSMIC ID: | CSMD1 |
| Gene location on chromosome: | 8p23.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19562 |
| Percent of cancer specimens with mutations: | 5.18 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations but no insertions or deletions. |
| Normal role description: | CSMD1 is a transmembrane protein and may have roles in regulating classical complement activation, inflammation, signal transduction and development of central nervous system. Function remains unknown. It is found expressed on neuronal and epithelial tissues. In cancer, its expression is found to be reduced and the region of chromosome coding this gene is often deleted. |