Cystin-1 (CYS1)

Cystin-1 (CYS1) is a cilia-associated protein encoded by the CYS1 gene, consisting of 145 amino acids and predominantly expressed in the developing kidney and liver ductal epithelium[1][2][4][6]. It plays a crucial role in stabilizing microtubule assembly within the ciliary axoneme, contributing to proper ciliary structure and function[3][6]. Cystin-1 localizes to the ciliary membrane via N-myristoylation and a novel AxEGG motif, which is essential for its trafficking and retention in primary cilia[2][6]. It has been implicated in the regulation of Myc gene expression through interaction with the protein necdin, acting as a negative regulator of cell proliferation in renal epithelial cells[1]. Loss or mutation of CYS1 leads to autosomal recessive polycystic kidney disease (ARPKD) in both mouse models and humans, due to dysregulation of ciliary signaling, resulting in kidney and liver cyst formation[1][2]. There are currently no known drugs or therapeutic agents directly targeting Cystin-1, and it is not classified as a therapeutic target or receptor, but rather as a cilia-associated structural/regulatory protein[1][2][6].

Other names

Cystin 1Cilia-associated proteincilia-associated proteinCCAPCPKCYSTIN2900006B19RikLOC686584