实体肿瘤检测ARID1A基因介绍
该基因编码Swi/Snf家族的一个成员，其成员具有螺旋酶和ATP酶活性，并被认为通过改变这些基因周围的染色质结构来调节某些基因的转录。编码蛋白是大型ATP依赖染色质重塑复合物snf/swi的一部分，这是染色质抑制的基因转录激活所必需的。它至少有两个保守域，对其功能可能很重要。首先，它有一个DNA结合域，可以特异性结合β-珠蛋白位点的snf/swi复合物所识别的富AT DNA序列。第二，蛋白的C端可刺激糖皮质激素受体依赖性转录激活。据认为，该基因编码的蛋白质对snf/swi复合物具有特异性，并可能通过蛋白质DNA或蛋白质-蛋白质相互作用将该复合物招募到其靶点。两个编码不同亚型的转录变体已经被发现。
This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene.
