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: | HFE |
| Gene Name: | HFE |
| Protein Full Name: | Hereditary hemochromatosis protein |
| Alias: | HLA-H |
| Mass (Da): | 40108 |
| Number AA: | 348 |
| UniProt ID: | Q30201 |
| Locus ID: | 3077 |
| COSMIC ID: | HFE |
| Gene location on chromosome: | 6p21.3 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19626 |
| Percent of cancer specimens with mutations: | 0.29 |
| Normal role description: | Involved in iron homeostasis. HFE binds to transferrin receptor and reduces its affinity for iron-loaded transferrin. Thought to be essential for hepcidin (regulator of iron metabolism) synthesis regulation. Although HFE mutations do not cause cancer, they have been associated with an increased susceptibility for breast cancer, leukemias, hepatocellular carcinoma and colon cancer. |