Pkd1 - polycystin 1, transient receptor potential channel interacting Gene

中文名称：多囊蛋白 1 ，瞬时受体电位通道相互作用

种属: Mus musculus

同用名: PC1; mFLJ00285

关于 Pkd1

功能概要

该基因编码的蛋白可启动钙通道活动。参与多个过程，包括转录因子的细胞质隔离；胎盘发育；和蛋白质从细胞核输出。作用于多个过程的上游或内部，包括动物器官发育；循环系统发育；和受体信号通路通过 JAK-STAT。位于多种细胞成分中，包括高尔基体；细胞表面；和活动的纤毛。多囊蛋白复合物的一部分。以多种结构表达，包括消化系统；心血管系统;中枢神经系统;泌尿生殖系统；和呼吸系统。用于研究常染色体隐性多囊肾病；肥厚性心肌病;和多囊肾病 1. 该基因的人类直系同源基因与常染色体显性多囊肾病有关；颅内动脉瘤;和多囊肾病 1. 与人类 PKD1（多囊蛋白 1，瞬时受体电位通道相互作用）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables Calcium Channel activity. Involved in several processes, including cytoplasmic sequestering of transcription factor; placenta development; and protein export from nucleus. Acts upstream of or within several processes, including animal organ development; circulatory system development; and receptor signaling pathway via JAK-STAT. Located in several cellular components, including Golgi apparatus; cell surface; and motile cilium. Part of polycystin complex. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and respiratory system. Used to study autosomal recessive polycystic kidney disease; hypertrophic cardiomyopathy; and polycystic kidney disease 1. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; and polycystic kidney disease 1. Orthologous to human PKD1 (polycystin 1, transient receptor potential channel interacting). [provided by Alliance of Genome Resources, Apr 2022]