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The Popeye domain containing gene family encoding a family of cAMP-effector proteins with important functions in striated muscle and beyond.
Journal of Muscle Research and Cell Motility ( IF 1.8 ) Pub Date : 2019-06-13 , DOI: 10.1007/s10974-019-09523-z
Alexander H Swan 1, 2 , Lena Gruscheski 1 , Lauren A Boland 1 , Thomas Brand 1
Affiliation  

The Popeye domain containing (POPDC) gene family encodes a novel class of membrane-bound cyclic AMP effector proteins. POPDC proteins are abundantly expressed in cardiac and skeletal muscle. Consistent with its predominant expression in striated muscle, Popdc1 and Popdc2 null mutants in mouse and zebrafish develop cardiac arrhythmia and muscular dystrophy. Likewise, mutations in POPDC genes in patients have been associated with cardiac arrhythmia and muscular dystrophy phenotypes. A membrane trafficking function has been identified in this context. POPDC proteins have also been linked to tumour formation. Here, POPDC1 plays a role as a tumour suppressor by limiting c-Myc and WNT signalling. Currently, a common functional link between POPDC’s role in striated muscle and as a tumour suppressor is lacking. We also discuss several alternative working models to better understand POPDC protein function.

中文翻译:


Popeye 结构域包含编码 cAMP 效应蛋白家族的基因家族,在横纹肌及其他肌肉中具有重要功能。



含有 Popeye 结构域 (POPDC) 的基因家族编码一类新型膜结合环 AMP 效应蛋白。 POPDC 蛋白在心肌和骨骼肌中大量表达。与其在横纹肌中的主要表达一致,小鼠和斑马鱼中的Popdc1Popdc2无效突变体会出现心律失常和肌营养不良。同样,患者 POPDC 基因突变与心律失常和肌营养不良表型相关。在此背景下,已确定了膜运输功能。 POPDC 蛋白也与肿瘤形成有关。在这里,POPDC1 通过限制 c-Myc 和 WNT 信号传导发挥肿瘤抑制因子的作用。目前,POPDC 在横纹肌中的作用与肿瘤抑制因子之间缺乏共同的功能联系。我们还讨论了几种替代工作模型,以更好地了解 POPDC 蛋白功能。
更新日期:2019-06-13
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