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: | EP300 |
Gene Name: | EP300 |
Protein Full Name: | Histone acetyltransferase p300 |
Alias: | 300 kd E1A-Binding protein gene; E1A binding protein p300; E1A-associated protein p300; Histone acetyltransferase p300; KAT3B; P300; P300 transcription coactivator homolog |
Mass (Da): | 264161 |
Number AA: | 2414 |
UniProt ID: | Q09472 |
Locus ID: | 2033 |
COSMIC ID: | EP300 |
Gene location on chromosome: | 22q13.2 |
Cancer protein type: | TSP |
Effect of cancer mutation on protein: | LOSS |
Effect of active protein on cancer: | INHIBTS |
Number of cancer specimens: | 22481 |
Percent of cancer specimens with mutations: | 2.67 |
General distribution of mutations: | Multi-site |
Location of most mutations: | Broad distribution of mutation sites with many point mutations and deletions, 3 insertions, but no complex mutations across the entire protein. |
Deregulated in translocations: | t(11;22)(q23;q13): MLL-p300 |
Normal role description: | Acts as a transcriptional coactivator and interacts with transcriptional repressors and activators. P300 is involved in chromatin remodeling in cell growth, diffrentiation and p53 mediated apoptosis. Acetylates all four core histones. Specifically binds to phosphorylated CREBP and mediates cAMP gene regulation. Suggested to play a role in development of epithelial cancers, mutations reported in gastric and colorectal cancers. Transitions in myeloid leukemias. |