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: | TFRC |
| Gene Name: | TFRC |
| Protein Full Name: | Transferrin receptor protein 1 |
| Alias: | CD71; P90; T9; TfR1; TR; Transferrin receptor (p90, CD71); Transferrin receptor 1; Transferrin receptor, p90; Trfr |
| Mass (Da): | 84871 |
| Number AA: | 760 |
| UniProt ID: | P02786 |
| Locus ID: | 7037 |
| COSMIC ID: | TFRC |
| Gene location on chromosome: | 3q29 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19926 |
| Percent of cancer specimens with mutations: | 0.43 |
| Normal role description: | Receptor - for transferrin. Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system. A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site. |