Pkd1

Enables calcium channel activity and transcription regulator inhibitor activity. Involved in several processes, including cell surface receptor signaling pathway via JAK-STAT; placenta blood vessel development; and protein export from nucleus. Acts upstream of or within several processes, including cartilage condensation; circulatory system development; and regulation of mitotic spindle organization. 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, Nov 2024]

此基因激活钙通道活性及转录调控抑制剂活性。参与多项过程，包括通过JAK-STAT介导的细胞表面受体信号通路；胎盘血管发育；以及从细胞核中蛋白质的输出。在多个过程中发挥作用，或位于其中，例如软骨凝聚；循环系统发育；以及有丝分裂纺锤体组织的调节。定位于多个细胞组分，包括高尔基体；细胞表面；以及运动性纤毛。构成多囊素复合体的一部分。在多个结构中表达，包括消化系统；心血管系统；中枢神经系统；生殖泌尿系统；以及呼吸系统。用于研究常染色体隐性多囊肾疾病；肥厚型心肌病；以及多囊肾疾病1。该基因的人类同源基因与常染色体显性多囊肾疾病；颅内动脉瘤；以及多囊肾疾病1有关。与人类PKD1（多囊素1，瞬时受体电位通道相互作用蛋白）同源。[由基因组资源联盟提供，2024年11月]