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, Mar 2025]