Polycystic kidney disease type 1 protein (IPR000434)

Short name: PC1

Overlapping homologous superfamilies


Family relationships



Polycystin-1 (PC1) plays a critical role in renal tubule diameter control. Mutations in the polycystin-1 gene cause cyst formation in human autosomal dominant polycystic kidney disease [PMID: 8554072, PMID: 22508176]. It may serve as a cell surface signaling receptor at cell-cell/cell-matrix junctions and as a mechano-sensor in renal primary cilia that activates signalling pathways involved in renal tubular differentiation [PMID: 17525154].

Polycystin-1 contains an REJ (receptor for egg jelly) domain and a GPS (G protein-coupled receptor proteolytic site) domain in its N-terminal extracellular region (ectodomain). It can be cleaved into N-terminal fragment (NTF) and C-terminal fragment (CTF) at the GPS domain [PMID: 17525154]. The GPS cleavage may play an important role for the biological function of PC1 [PMID: 12482949].

GO terms

Biological Process

GO:0001822 kidney development

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0016021 integral component of membrane

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.