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: | TP53 |
| Gene Name: | TP53 |
| Protein Full Name: | Cellular tumor antigen p53 |
| Alias: | Antigen NY-CO-13; Cellular tumor antigen p53; LFS1; Li-Fraumeni syndrome; Phosphoprotein p53; TP53; Tumor protein p53; Tumor suppressor p53; Tumour suppressor p53 |
| Mass (Da): | 43653 |
| Number AA: | 393 |
| UniProt ID: | P04637; A2I9Y7; A2I9Z0; A4GW67; A4GW74; A4GWB4; A4GWD0; B1PZ15; B2ZAH2; B4DMH2; B4XAK8; D5KL87; E2G6R5; E7EMR6; E9PFT5; Q0ZAK0; Q1HGV0; Q1MSW8; Q1MSX0; Q53GA5; Q6IT77; Q761V2 |
| Locus ID: | 7157 |
| COSMIC ID: | TP53 |
| Gene location on chromosome: | 17p13.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 99856 |
| Percent of cancer specimens with mutations: | 27.55 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Wide range of point mutations, complex mutations, insertions and deletions are evident across the entire length of this protein. |
| Commonly recorded point mutations: | R175H (1076); R248Q (730); R273H (686); R248W (630); R273C (650); R249S (353); G245S (392); C176F (165); H179R (149); H179Y (106) |
| Mutations observed as inherited: | Li-Fraumeni syndrome (brain tumors, sarcomas, leukemia). |
| Deregulated by viral insertion: | Moloney murine leukemia virus (MoMLV) - Mouse |
| Normal role description: | TP53 is a transcription factor which has a role in tumour suppression. In normal cells expression of TP53 is induced when challenged by stress caused by DNA damage, hypoxia, metabolite depletion, viral infection and tumorigenesis. p53 activates transcription of genes required for cell cycle arrest or apoptosis. Some target genes include p21 and 14-3-3 proteins which cause cell cycle arrest in G1 and G2 phase respectively. BAX, PUMA and NOXA can activate pro-apoptotic pathways to cause death in transformed cells. Mutations of TP53 has been implicated in the development of around 50-60% of all human cancers. Typically mutations which lead to loss of function through deletion or mis-sense mutations, prevent TP53 from binding and activating transcription of target tumour suppressor genes. |
| Commentary on involvement of protein in cancer: | Most mutation lead to loss of function by interfering with DNA binding. |