ARID1A

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. [provided by RefSeq, Jul 2008]

本基因编码SWI/SNF家族成员，该家族成员具有解旋酶和ATP酶活性，并被认为通过改变围绕特定基因的染色质结构来调节这些基因的转录。编码的蛋白是大型ATP依赖性染色质重塑复合物SNF/SWI的组成部分，该复合物对于通常被染色质抑制的基因的转录激活是必需的。该蛋白至少包含两个保守结构域，这些结构域可能对其功能至关重要。首先，它含有一个DNA结合域，能够特异性地结合富含AT序列的DNA，这种序列已知能被SNF/SWI复合物在β-珠蛋白位点识别。其次，蛋白的C端可以刺激糖皮质激素受体依赖性的转录激活。据推测，由该基因编码的蛋白为SNF/SWI复合物提供特异性，并且可能通过蛋白-DNA或蛋白-蛋白相互作用将该复合物招募到其靶点。对于该基因，已经发现两种转录变体，它们编码不同的异构体。[由RefSeq提供，2008年7月]