Vcp - valosin containing protein Gene

中文名称：含缬酪肽蛋白

种属: Mus musculus

同用名: p97; CDC48; p97/VCP; 3110001E05

关于 Vcp

功能概要

该基因编码的蛋白可启动多种功能，包括 ATP 水解活性； K48 连接的多聚泛素修饰依赖性蛋白结合活性；和腺苷酸核糖核苷酸结合活性。参与ATP代谢过程；线粒体膜电位的正向调节；和蛋白酶体蛋白质分解代谢过程。在参与细胞凋亡过程的半胱氨酸型内肽酶活性的激活上游或内部起作用；侵略性装配；和泛素依赖性蛋白质分解代谢过程。位于内质网膜和突触中。 ATP酶复合体的一部分； VCP-NSFL1C 复合体；和内质网膜。在多种结构中表达，包括大脑皮层；早期胚胎；性腺;直觉;和小腿三头肌。用于研究包涵体肌病伴骨Paget病和额颞叶痴呆。该基因的人类直系同源基因与多种疾病有关，包括 Charcot-Marie-Tooth 病 2Y 型；佩吉特骨病；肌萎缩侧索硬化 14 型；伴有或不伴有额颞叶痴呆的早发性佩吉特骨病的包涵体肌病 1；和包涵体肌炎。与人类 VCP（含缬乐肽的蛋白质）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables several functions, including ATP hydrolysis activity; K48-linked polyubiquitin modification-dependent protein binding activity; and adenyl ribonucleotide binding activity. Involved in ATP metabolic process; positive regulation of mitochondrial membrane potential; and proteasomal protein catabolic process. Acts upstream of or within activation of cysteine-type endopeptidase activity involved in apoptotic process; aggresome assembly; and ubiquitin-dependent protein catabolic process. Located in endoplasmic reticulum membrane and synapse. Part of ATPase complex; VCP-NSFL1C complex; and endoplasmic reticulum membrane. Is expressed in several structures, including cerebral cortex; early embryo; gonad; gut; and triceps surae muscle. Used to study inclusion body myopathy with Paget disease of bone and frontotemporal dementia. Human ortholog(s) of this gene implicated in several diseases, including Charcot-Marie-Tooth disease type 2Y; Paget's disease of bone; amyotrophic lateral sclerosis type 14; inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1; and inclusion body myositis. Orthologous to human VCP (valosin containing protein). [provided by Alliance of Genome Resources, Apr 2022]