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: | POU5F1 |
| Gene Name: | POU5F1 |
| Protein Full Name: | POU domain, class 5, transcription factor 1 |
| Alias: | OCT3; Oct-3; OCT4; Oct-4; Octamer-binding transcription factor 3; OTF3; PO5F1 |
| Mass (Da): | 38571 |
| Number AA: | 360 |
| UniProt ID: | Q01860 |
| Locus ID: | 5460 |
| COSMIC ID: | POU5F1 |
| Gene location on chromosome: | 6p21.31 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20357 |
| Percent of cancer specimens with mutations: | 0.21 |
| Deregulated in translocations: | t(6;22)(p21;q12) translocation with EWSR1 in sarcoma (100%) (1/1); mucoepidermoid carcinoma (33%) (1/3); and hidradenoma (100%) (3/3) |
| Normal role description: | POU5F1 is a transcription factor highly expressed in undifferentiated embryonic stem cells that forms a trimeric complex with SOX2 on DNA and is responsible for regulating the expression of certain genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206, and is hence critical for early embryogenesis and embryonic stem cell pluripotency. Translocation of the gene with EWSR1 t(6;22)(p21;q12), has been linked to the formation of tumours in sarcomas, mucoepidermoid carcinomas, and hidradenomas. |
| Commentary on involvement of protein in cancer: | 1 pharyngeal sample was also mutated (mis-sense & silent) |