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: | APC |
| Gene Name: | APC |
| Protein Full Name: | Adenomatous polyposis coli protein |
| Alias: | Adenomatous polyposis coli; Adenomatous polyposis of the colon gene; APC protein; Deleted in polyposis 2.5; DP2; DP2.5; DP3; MAPC |
| Mass (Da): | 311646 |
| Number AA: | 2843 |
| UniProt ID: | P25054 |
| Locus ID: | 324 |
| COSMIC ID: | APC |
| Gene location on chromosome: | 5q21-q22 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 34812 |
| Percent of cancer specimens with mutations: | 12.11 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad range of point mutations, complex mutations, insertions and deletions, expecially between amino acids 1200 to 1600. |
| Commonly recorded point mutations: | R1450* (233; non-sense substitution); T1556fs* (255, Insertion - Frameshift |
| Mutations observed as inherited: | Colorectal cancer (due to Familial adenomatous polyposis coli). |
| Gene undergoes hypermethylation: | Colon carcinomas |
| Normal role description: | APC is a classical tumour suppressor protein. The APC gene product indirectly regulates transcription of a number of critical cell proliferation genes, through its interaction with the transcription factor beta catenin. APC binding to beta catenin leads to ubiquitin-mediated beta catenin destruction; loss of APC function increases transcription of beta catenin targets. These targets include cyclin D, C-myc, ephrins and caspases. APC also interacts with numerous actin and microtubule associated proteins. APC itself stabilizes microtubules. Homozygous APC truncation has been shown to affect chromosome attachment in cultured cells. Roles for APC in cell migration have been demonstrated in vitro and in mouse models. (Atlas) |
| Commentary on involvement of protein in cancer: | Many mutation lead to loss of APC function. |