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: | CDKN1A |
| Gene Name: | CDKN1A |
| Protein Full Name: | Cyclin-dependent kinase inhibitor 1 |
| Alias: | CAP20; CDKN1; CDKN1A; CDN1A; CIP1; MDA6; Melanoma differentiation associated protein; PIC1; SDI1; WAF1 |
| Mass (Da): | 17988 |
| Number AA: | 164 |
| UniProt ID: | P38936 |
| Locus ID: | 1026 |
| COSMIC ID: | CDKN1A |
| Gene location on chromosome: | 6p21.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20387 |
| Percent of cancer specimens with mutations: | 0.3 |
| Normal role description: | CDKN1A is a highly potent cyclin-dependent kinase inhibitor of the activity of cyclin-CDK2 and -CDK4 complexes, and hence regulates the cell cycle progression at G1 phase. It also plays a regulatory role in S phase DNA replication and DNA damage repair, via interactions with PCNA, and may induce G2 arrest. Its expression is essential to maintain cell survival during differentiation, and is mediated by the tumour suppressor p53. In prostate cancer, a single base frameshift insertion at codon 35, has been identified to cause protein troncation and impaired activity of the protein. |