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: | ANKS1A |
Gene Name: | ANKS1A |
Protein Full Name: | Ankyrin repeat and SAM domain-containing protein 1 |
Alias: | ANKS1; Ankyrin repeat and SAM domain containing protein 1; Ankyrin repeat and sterile alpha motif domain containing 1A; ANS1; KIAA0229; Odin |
Mass (Da): | 123108 |
Number AA: | 1134 |
UniProt ID: | Q92625 |
Locus ID: | 23294 |
COSMIC ID: | ANKS1A |
Gene location on chromosome: | 6p21.31 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | GAIN |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 19626 |
Percent of cancer specimens with mutations: | 0.81 |
Normal role description: | ANKS1A functions to regulate several RTK pathways (EPHA8R, EFGR, and PDGFR.). Not surprizingly, it is associated with certain cancers (namely ovarian). Since ANKS1A is phosphorylated on tyrosine residues in response to EGF and PDGF, it is resonable to hypothesize that the certain mutations could lead to increased activity and thus promote pro-growth/anti-apoptotic pathways after induction by EGF and PDGF. |