菜单 基因医生

该基因编码的蛋白是由保守的asp-glu-ala-asp（dead）基序决定的大死亡盒蛋白家族成员，具有atp依赖的rna螺旋酶活性。据报道，这种蛋白具有高水平的rna非依赖性atp酶活性，与大多数死盒螺旋酶不同，atp酶活性被认为是由rna和dna共同刺激的。这种蛋白质具有多个保守结构域，被认为在细胞核和细胞质中都起作用。核功能包括转录调控、mrnp组装、前mrna剪接和mrna输出。在细胞质中，这种蛋白质被认为参与翻译、细胞信号和病毒复制。这种基因的失调与肿瘤的发生有关。这个基因有一个位于Y染色体非结合区的副对数。在4号染色体和x染色体上发现了与该基因和ddx3y副记录相似的假基因。选择性剪接导致多个转录变体。[由RefSeq提供，2014年10月]
The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]