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: | ABCA3 |
| Gene Name: | ABCA3 |
| Protein Full Name: | ATP-binding cassette sub-family A member 3 |
| Alias: | ABC transporter 3; ABC3; ABC-C; ABC-C transporter; ATP-binding cassette 3; ATP-binding cassette, sub-family A (ABC1) member 3; EST111653; LBM180 |
| Mass (Da): | 191362 |
| Number AA: | 1704 |
| UniProt ID: | Q99758 |
| Locus ID: | 21 |
| COSMIC ID: | ABCA3 |
| Gene location on chromosome: | 16p13.3 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20221 |
| Percent of cancer specimens with mutations: | 1.57 |
| Normal role description: | ABCA3 plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol. ABCA3 is expressed in higher levels in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma. It is possible that this contributes to multi-drug resistance of tumour cells. |