该基因广泛表达,参与多种不同转录因子的转录共激活。首先作为一种结合cAMP反应元件结合蛋白(creb)的核蛋白被分离出来,该基因通过将染色质重塑与转录因子识别结合,在胚胎发育、生长控制和体内平衡中发挥关键作用。该基因编码的蛋白质具有固有的组蛋白乙酰转移酶活性,也作为支架稳定与转录复合物的额外蛋白质相互作用。这种蛋白乙酰化组蛋白和非组蛋白。该蛋白在其溴域、富含半胱氨酸组氨酸区域和组蛋白乙酰转移酶区域与p300蛋白具有很高的序列相似性。这种基因的突变导致鲁宾斯坦-泰比综合征(RTS)。涉及该基因的染色体易位与急性髓性白血病有关。选择性剪接导致编码不同亚型的多个转录变体。
This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms.

基因名:CREBBP
别名:CBP,KAT3A,RSTS
基因ID:1387
Chromosome:
(GRCh37)
16 Start: 3775055 End: 3930727 Strand: -1
信号通路: 细胞周期  炎症相关  肿瘤干细胞 
靶向药: C646 
化疗药:
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