CIC - capicua transcriptional repressor Gene

中文名称：capicua 转录抑制因子

种属: Homo sapiens

同用名: MRD45

关于 CIC

功能概要

由该基因编码的蛋白质是黑腹果蝇 capicua 基因的直向同源物，并且是转录抑制因子高迁移率组 (HMG) -box 超家族的成员。该蛋白质包含一个参与 DNA 结合和核定位的保守 HMG 结构域，以及一个保守的 C 末端。研究表明，该蛋白质的 N 末端区域与 Atxn1 (GeneID:6310) 相互作用，形成转录抑制复合物，体外研究表明，ATXN1 的聚谷氨酰胺扩展可能会改变该复合物的抑制活性。该基因的突变与少突神经胶质瘤 (PMID:21817013) 有关。此外，导致该基因与 DUX4 (GeneID:100288687) 和 FOXO4 (GeneID:4303) 发生基因融合的易位事件与圆形细胞肉瘤有关。在 1、4、6、7、16、20 号染色体和 Y 染色体上发现了该基因的多个假基因。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2015 年 2 月]

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. [provided by RefSeq, Feb 2015]