細胞代謝信號通路相關(guān)的基因介紹--CEBPA基因
這個無內(nèi)含子基因編碼一個轉(zhuǎn)錄因子,該轉(zhuǎn)錄因子包含一個堿性亮氨酸拉鏈(bzip)結(jié)構(gòu)域,并識別目標(biāo)基因啟動子中的ccaat基序。編碼蛋白在具有CCAAT/增強子結(jié)合蛋白β和γ的同二聚體和異二聚體中起作用。這種蛋白的活性可以調(diào)節(jié)參與細胞周期調(diào)節(jié)和體重平衡的基因表達。該基因突變與急性髓系白血病有關(guān)。在非aug(gug)和aug-start密碼子框架中使用替代密碼子導(dǎo)致不同長度的蛋白質(zhì)亞型。差異翻譯起始由位于gug和第一個aug起始密碼子之間的一個幀外、上游開放閱讀幀介導(dǎo)。
This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons.