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: | SMO |
| Gene Name: | SMO |
| Protein Full Name: | Smoothened homolog |
| Alias: | Gx; Gx protein; SMOH; Smoothened; Smoothened homolog (Drosophila) |
| Mass (Da): | 86378 |
| Number AA: | 787 |
| UniProt ID: | Q99835 |
| Locus ID: | 6608 |
| COSMIC ID: | SMO |
| Gene location on chromosome: | 7q32.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 22820 |
| Percent of cancer specimens with mutations: | 1.03 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations and 1 insertion across entire protein, but no complex mutations or deletions. However, a large portion of point mutations are located at W535. |
| Commonly recorded point mutations: | L412F (27); W535L (18) |
| Mutations observed as inherited: | NA |
| 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: | SMO is a G protein-coupled receptor that associates with Patched in the hedgehog signalling pathway which promotes cell division. Knockout of SMO in the mouse stroma resulted in growth inhibition in xenograft tumour models, as well as impaired hematopoietic stem cell renewal and decreased induction of chronic myelogenous leukemia. |
| Commentary on involvement of protein in cancer: | entries for basal cell carcinoma, but not squamous/melanoma |