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: | CREBBP |
| Gene Name: | CREBBP |
| Protein Full Name: | CREB-binding protein |
| Alias: | CBP; CREB binding protein; CREB binding protein (CBP); KAT3A; RSTS; RTS |
| Mass (Da): | 265351 |
| Number AA: | 2442 |
| UniProt ID: | Q92793 |
| Locus ID: | 1387 |
| COSMIC ID: | CREBBP |
| Gene location on chromosome: | 16p13.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | MIXED |
| Number of cancer specimens: | 23388 |
| Percent of cancer specimens with mutations: | 3.5 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, insertions and deletions, but no complex mutations, over entire protein length. |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | t(8;16)(p11;p13) with KAT6A; t(11;16)(q23;p13.3) with MLL/HRX; t(10;16)(q22;p13) with KAT6B |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | CREBBP is a histone acetyltransferase that can activate transcription. It can specifically bind to phosphorylated CREB and enhance its transcriptional activity towards cAMP-associated genes. It can also acetylate non-histone proteins such as the NCOA3 coactivator. It may also be involved in the regulation of cell cycle during the G1/S transition. Three translocation products resulting in acute myeloid leukemias have been described: 1) t(8;16)(p11;p13) with KAT6A; 2) t(11;16)(q23;p13.3) with MLL/HRX; 3) t(10;16)(q22;p13) with KAT6B. KATA6A-CREBBP fusion may induce leukemia by inhibiting RUNX1-mediated transcription of regulatory proteins. |