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: | ACTB |
| Gene Name: | ACTB |
| Protein Full Name: | Actin, cytoplasmic 1 |
| Alias: | Actin, beta; Actin, cytoplasmic 1; Beta-actin |
| Mass (Da): | 41737 |
| Number AA: | 375 |
| UniProt ID: | P60709 |
| Locus ID: | 60 |
| COSMIC ID: | ACTB |
| Gene location on chromosome: | 7p22 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19808 |
| Percent of cancer specimens with mutations: | 0.58 |
| Deregulated in translocations: | t(7;12)(p22;q13) Fusion protein is driven from active ACTB promoter in dermatofibrosarcoma protuberans. Fusion partners include GLI1. |
| Normal role description: | ACTB is an actin protein which forms part of cytoskeletal microfilaments. It is involved in chromosome trafficking. ACTB-GLI1 causes over expression of GLI1 which contains DNA-binding and transactivating domains and activation of downstream GLI1 target genes. Cytoskeletal rearrangements are common in malignant cells and contact-independent growth usually involves ECM/actin interaction. However, these changes are not necessarily related to mutations in the actin protein itself. |