Polycystin-1-like protein 1 (PKD1L1)

Polycystin-1-like protein 1 (PKD1L1) is a member of the polycystin protein family encoded by the PKD1L1 gene[2][4]. It is a transmembrane protein featuring 11 membrane-spanning domains, a large extracellular region with two immunoglobulin-like polycystic kidney disease (PKD) domains, a receptor for egg jelly (REJ) domain, a GPS proteolysis site, a PLAT domain, and an intracellular coiled-coil region[2][4][6]. PKD1L1 functions as a component of a ciliary calcium-permeant ion channel complex that regulates calcium concentration within primary cilia, often via interaction and colocalization with the similar protein PKD2[2][6][8]. PKD1L1 has both channel-like and adhesion GPCR features; certain isoforms contain motifs typical of rhodopsin-like GPCRs and interact with G-protein signaling pathways[6][5]. Biologically, PKD1L1 is crucial for establishing left–right asymmetry during embryonic development, with loss-of-function mutations linked to laterality disorders including situs inversus and heterotaxy, which can cause congenital heart defects[4]. It is also expressed in the testis (especially Leydig cells) and the fetal/adult heart[2]. PKD1L1 plays a role in signal transduction, ciliary calcium signaling, protein–protein/cell–cell interactions, cell adhesion, and possibly mechano/force sensing[2][4][5]. No clinically approved drugs directly targeting PKD1L1 have been described in the literature, nor are biomarkers or specific safety concerns established at this time.

Other names

Polycystin-1-like protein 1PKD1L1PC1L1UNQ5785/PRO19563Polycystin-1L1PRO19563HTX8PC1-like 1 proteinPolycystic kidney disease protein 1-like 1polycystic kidney disease 1 like 1