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  • 發布時間:2022-07-20 10:02 原文鏈接: 核受體信號通路相關因子CIC

    該基因編碼的蛋白質是果蠅黑胃管Capicua基因的一個同源基因,是轉錄抑制因子的高遷移率群(HMG)盒超家族成員。該蛋白包含一個參與DNA結合和核定位的保守HMG結構域和一個保守的C端。研究表明,這種蛋白的N末端區域與ATXN1(geneid:6310)相互作用,形成轉錄抑制復合物,體外研究表明,ATXN1的聚谷氨酰胺擴張可能改變這種復合物的抑制活性。該基因突變與少突膠質瘤有關(pmid:21817013)。此外,導致dux4(geneid:100288687)和fox4(geneid:4303)基因融合的易位事件與圓細胞肉瘤有關。在染色體1、4、6、7、16、20和Y染色體上發現了該基因的多個假基因。選擇性剪接導致編碼不同亞型的多個轉錄變體。
    The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms.

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