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: | SIX1 |
| Gene Name: | SIX1 |
| Protein Full Name: | Homeobox protein SIX1 |
| Alias: | Sine oculis homeobox homolog 1 |
| Mass (Da): | 32210 |
| Number AA: | 284 |
| UniProt ID: | Q15475 |
| Locus ID: | 6495 |
| COSMIC ID: | SIX1 |
| Gene location on chromosome: | 14q23 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19625 |
| Percent of cancer specimens with mutations: | 0.33 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | 5% of breast cancers |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | SIX1 is a homeobox protein involved in limb tendon and ligament development. SIX1 expression was enhanced in rhabdomyosarcoma, cancers of the breast, brain, cervix, prostate, colon, kidney, and liver, and higher expression correlated with clinical stage, suggesting a role in oncogenesis. It can induce epithelial-to-mesenchymal transition via TGF-beta signalling in mammary gland epithelium and promote tumour formation and metastasis. It is also known to activate cyclin A1, GDNF, and c-Myc. Amplification of SIX1 has been seen in about 5% of breast cancers. |