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: | SGMS1 |
| Gene Name: | SGMS1 |
| Protein Full Name: | Phosphatidylcholine:ceramide cholinephosphotransfe |
| Alias: | EC 2.7.8.27; Mob; SMS1; Sphingomyelin synthase 1; Transmembrane protein 23 |
| Mass (Da): | 49208 |
| Number AA: | 419 |
| UniProt ID: | Q86VZ5 |
| Locus ID: | 259230 |
| COSMIC ID: | SGMS1 |
| Gene location on chromosome: | 10q11.23 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19805 |
| Percent of cancer specimens with mutations: | 0.41 |
| Normal role description: | SGMS1 is an enzyme that can convert phosphatidylcholine and ceramide to sphingomyelin and diacylglycerol. The reverse reaction is also possible depending on concentration of substrates and products. In response to hydrogen peroxide, osmotic stress, or increased in temperature it can inhibit apoptosis by BAX inhibition. It is also involve in regulation of cell growth. |