National Heart and Lung Institute, Imperial College London, 4th Floor ICTEM Building, Du Cane Road, London W12 0NN, U.K.
Biochem Soc Trans. 2019 Oct 31;47(5):1393-1404. doi: 10.1042/BST20190249.
The Popeye domain-containing gene family encodes a novel class of cAMP effector proteins in striated muscle tissue. In this short review, we first introduce the protein family and discuss their structure and function with an emphasis on their role in cyclic AMP signalling. Another focus of this review is the recently discovered role of POPDC genes as striated muscle disease genes, which have been associated with cardiac arrhythmia and muscular dystrophy. The pathological phenotypes observed in patients will be compared with phenotypes present in null and knockin mutations in zebrafish and mouse. A number of protein-protein interaction partners have been discovered and the potential role of POPDC proteins to control the subcellular localization and function of these interacting proteins will be discussed. Finally, we outline several areas, where research is urgently needed.
肌球蛋白结合蛋白 D 基因家族编码一个新型的环磷酸腺苷效应蛋白家族，存在于横纹肌组织中。在这篇简短的综述中，我们首先介绍了这个蛋白家族，并讨论了它们的结构和功能，重点介绍了它们在环磷酸腺苷信号转导中的作用。本综述的另一个重点是最近发现的 POPDC 基因作为横纹肌疾病基因的作用，这些基因与心律失常和肌肉营养不良有关。将比较患者的病理表型与斑马鱼和小鼠中的缺失和敲入突变的表型。已经发现了许多蛋白质-蛋白质相互作用伙伴，并且将讨论 POPDC 蛋白控制这些相互作用蛋白的亚细胞定位和功能的潜在作用。最后，我们概述了几个急需研究的领域。
