Gene Symbol | EP300 |
Entrez Gene ID | 2033 |
Full Name | E1A binding protein p300 |
Synonyms | KAT3B,RSTS2,p300 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Rubinstein-Taybi syndrome 2, 613684 (3); Colorectal cancer, somatic, 114500 (3) |