该基因编码腺病毒E1A相关的细胞p300转录辅激活蛋白。作为组蛋白乙酰转移酶,通过染色质重塑调节转录,在细胞增殖和分化过程中起重要作用。通过与磷酸化CREB蛋白特异性结合来介导cAMP基因调控。该基因也被鉴定为HIF1A(缺氧诱导因子1α)的共激活物,因此在缺氧诱导基因如VEGF的刺激中起到作用。这种基因的缺陷是鲁宾斯坦-泰比综合征的原因,也可能在上皮癌中起作用。
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.

基因名:EP300
别名:KAT3B,RSTS2,p300
基因ID:2033
Chromosome:
(GRCh37)
22 Start: 41487790 End: 41576081 Strand: 1
信号通路: DNA修饰及其它  组蛋白修饰  细胞周期  炎症相关  肿瘤干细胞