PKD1

Polycystin-1 is a is_associated_with::protein that in is_associated_with::humans is encoded by the PKD1 is_associated_with::gene.

Gene
Splice variants encoding different isoforms have been noted for PKD1. The gene is closely linked to six is_associated_with::pseudogenes in a known duplicated region on chromosome 16p.



Function
Polycystin-1 is a is_associated_with::glycoprotein which contains a large N-terminal extracellular region, multiple is_associated_with::transmembrane domains and a cytoplasmic C-tail. It may function as an integral membrane protein involved in cell-cell/matrix interactions, and may modulate intracellular calcium homoeostasis and other signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene have been associated with is_associated_with::autosomal dominant polycystic kidney disease.

Interactions
Polycystin-1 has been shown to interact with is_associated_with::polycystin-2 and is_associated_with::RGS7.