首页> 外文期刊>Genomics >Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23.
【24h】

Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23.

机译:在8p22-p23上鉴定和定位新的人类肌管蛋白相关蛋白基因mtmr8。

获取原文
获取原文并翻译 | 示例
           

摘要

Myotubularin and myotubularin-related proteins are dual-specificity phosphatases.Several myotubularin-related proteins have been identified in humans and mice. The members of the myotubularin protein family are highly conserved, from humans to yeast. Mutations in the human myotubularin gene (MTM1) lead to X-linked myotubular myopathy. Here we isolate and localize a novel putative myotubularin-related protein gene (MTMR8) on chromosome 8p22--p23,between the markers D8S550 and D8S265, by exon-trapping experiments and RT-PCR. Genomic sequencing revealed that the gene consists of 10 exons and spans approximately 43 kb. The corresponding cDNA is 7081 bp. The open reading frame predicts a protein of 549 amino acids and a calculated molecular mass of 63 kDa. Like myotubularin-related protein-5, MTMR8 has no dual-specificity phosphatase domain. It contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation.
机译:肌微管蛋白和肌微管蛋白相关蛋白是双重特异性磷酸酶。已在人和小鼠中鉴定出几种肌微管蛋白相关蛋白。从人类到酵母,肌微管蛋白家族的成员都是高度保守的。人类肌管蛋白基因(MTM1)中的突变导致X连锁肌管肌病。在这里我们通过外显子诱捕实验和RT-PCR在标记D8S550和D8S265之间的染色体8p22--p23上分离并定位了一个新的假定的肌微管蛋白相关蛋白基因(MTMR8)。基因组测序表明该基因由10个外显子组成,跨度约为43 kb。相应的cDNA是7081bp。开放阅读框预测蛋白质为549个氨基酸,计算分子量为63 kDa。与肌管蛋白相关蛋白5一样,MTMR8也没有双重特异性磷酸酶结构域。它包含一个类似于SET相互作用域的双螺旋基序,被认为在控制细胞增殖中起作用。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号