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: | ABCA1 |
| Gene Name: | ABCA1 |
| Protein Full Name: | ATP-binding cassette sub-family A member 1 |
| Alias: | ABC1; ABC-1; ATP-binding cassette 1; ATP-binding cassette transporter 1; ATP-binding cassette, sub-family A (ABC1) member 1; CERP; Cholesterol efflux regulatory protein; HDLDT1; Tangier disease; TGD |
| Mass (Da): | 254286 |
| Number AA: | 2261 |
| UniProt ID: | O95477 |
| Locus ID: | 19 |
| COSMIC ID: | ABCA1 |
| Gene location on chromosome: | 9q31.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20209 |
| Percent of cancer specimens with mutations: | 1.7 |
| Normal role description: | ABCA1 is a cAMP-dependent and sulfonylurea-sensitive anion transporter of the superfamily of ATP-binding cassette (ABC) transporters. It act as a gatekeeper influencing intracellular cholesterol transport. It is feasible that over-expression of this protein might confer multi-drug resistance to cancer treatment drugs. |