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: | SLC4A1 |
Gene Name: | SLC4A1 |
Protein Full Name: | Band 3 anion transport protein |
Alias: | AE 1; AE1; anion exchange protein 1; B3AT; Band 3; band 3 anion transport protein; CD233; CD233 antigen; CFB3; DI; EPB3; erythrocyte membrane protein band 3; FR; Froese blood group; RTA1A; solute carrier family 4, anion exchanger, member 1; SW; Swann blood group; WD; WR; Wright blood group |
Mass (Da): | 101792 |
Number AA: | 911 |
UniProt ID: | P02730 |
Locus ID: | 6521 |
COSMIC ID: | SLC4A1 |
Gene location on chromosome: | 17q21.31 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 19627 |
Percent of cancer specimens with mutations: | 1.14 |
Normal role description: | SLC4A1 is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. Mutations have been implicated in hereditary red cell defects and renal tubular acidosis. Moreover, in gastic cancer, SLC4A1 protein translation is couple to p16, and SLC4A1 migrates into the cytoplasm blocking p16-induced apoptosis of gastric cancer cells. |