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: | XPO1 |
| Gene Name: | XPO1 |
| Protein Full Name: | Exportin-1 |
| Alias: | Chromosome region maintenance 1 protein homologue; Exp1 |
| Mass (Da): | 123386 |
| Number AA: | 1071 |
| UniProt ID: | O14980 |
| Locus ID: | 7514 |
| COSMIC ID: | XPO1 |
| Gene location on chromosome: | 2p15 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19802 |
| Percent of cancer specimens with mutations: | 0.85 |
| Commonly recorded point mutations: | E571K (11) |
| Normal role description: | XPO1 is responsible for mediating the nuclear export of cellular proteins bearing a leucine-rich nuclear export signal (NES), and of RNAs. In the nucleus, together with RANBP3, it binds cooperatively to the NES on its target protein and to the RAN-GTP. Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of an nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP cause release of the cargo from the export receptor. Several viruses such as HIV-1, HTLV-1 and Influenza A use XPO1 to export their unspliced, or incompletely spliced, RNAs out of the nucleus. Its expression is elevated in certain cancers such as breast- and cervical cancer. |
| Commentary on involvement of protein in cancer: | 1/45 CNS tumour samples and 1 laryngeal sample/6 total UAT samples were also mutated (mis-sense). Only 1 hematopoietic-, and 1 ovarian sample were included in Sanger COSMIC |