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: | OBSCN |
| Gene Name: | OBSCN |
| Protein Full Name: | Obscurin |
| Alias: | Obscurin |
| Mass (Da): | 868466 |
| Number AA: | 7968 |
| UniProt ID: | Q5VST9 |
| Locus ID: | 84033 |
| COSMIC ID: | OBSCN |
| Gene location on chromosome: | 1q42.13 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19951 |
| Percent of cancer specimens with mutations: | 5.18 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with several point mutations and two deletions, but no complex or insertion mutants. |
| Normal role description: | OBSCN is involved in myofibrillogenesis. It seems to be an adapter protein that is involved in assembly of myosin into sarcomeric A bands in striated muscle. Isoform 3 together with ANK1 isoform Mu17/Ank1.5 may provide a molecular link between the sarcoplasmic reticulum and myofibrils. Although it demonstrates a high rate of mutation in cancer cells, it is unclear how this implicates in oncogenesis. |