Pkd1 - polycystin 1, transient receptor potential channel interacting Gene

Also known as PC1; mFLJ00285

About Pkd1

Summary

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]