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: | CASC5 |
| Gene Name: | CASC5 |
| Protein Full Name: | Protein CASC5 |
| Alias: | AF15q14; ALL1-fused gene from chromosome 15q14; Blinkin, bub-linking kinetochore protein; Cancer susceptibility candidate 5; Cancer/testis antigen 29; CT29; D40; Kinetochore null 1; KNL1 |
| Mass (Da): | 265391 |
| Number AA: | 2342 |
| UniProt ID: | Q8NG31 |
| Locus ID: | 57082 |
| COSMIC ID: | CASC5 |
| Gene location on chromosome: | 15q14 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNLCEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20239 |
| Percent of cancer specimens with mutations: | 1.04 |
| Deregulated in translocations: | Acute non-lymphocytic leukemia. Fusion partner is MLL. |
| Normal role description: | CASC5 is a nuclear localized protein important for mitosis. CASC5 very high expression in spermatocytes in testis. CASC5 functions within a cetnromere complex to regulate spindle-assembly checkpoint signalling and chromosome alignment. A translocation even leads to fusion of CASC5 to the MLL gene to form a transcriptional regulatory factor of HOX genes required cell proliferation. The MLL-CASC5 fusion product has been implicated in acute non-lymphocytic leukemia (ANLL). Furthermore a strong correlation with CASC5 expression and lung cancer has been observed in the smoker population. |