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: | PYHIN1 |
| Gene Name: | PYHIN1 |
| Protein Full Name: | Pyrin and HIN domain-containing protein 1 |
| Alias: | Interferon-inducible protein X |
| Mass (Da): | 55065 |
| Number AA: | 492 |
| UniProt ID: | Q6K0P9 |
| Locus ID: | 149628 |
| COSMIC ID: | PYHIN1 |
| Gene location on chromosome: | 1q23.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 19673 |
| Percent of cancer specimens with mutations: | 0.98 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | PYHIN1 mediates the tumour suppressor activity of IFN in breast cancer cells. It promotes the ubiquitination and degradation of MDM2, thus derepressing p53. It can also promote the ubiquitination and degradation of HDAC1 to enhance maspin expression and impaire cancer cell metastasis. Downregulation of PYHIN1 is associated with breast cancer. |