Cystin-1

Cystin-1, also known as CYS1, is a novel cilia associated protein which in humans is encoded by the Cystin 1 gene on chromosome 2. The gene is highly expressed in the tissues of the kidneys. There are no known paralogs of Cystin-1 in humans, but has orthologs in mammals, birds, and some reptiles.

Gene
The Cystin 1 gene is found on the negative strand of chromosome 2 in humans, with the exact location at 2p25.1. It contains 3 exons, spanning 3045 base pairs.

Expression
The gene is overwhelmingly expressed within tissues in the kidneys. Lower expression levels are found in the ovaries, endometrium, lung, and gallbladder.

Clinical Significance
Gene expression levels are increased in the ovary of those who experience ovarian endometriosis. There are also studies that connect the expression of Cystin to polycystic kidney disease, but direct impact is unknown.

Protein
Cystin-1 consists of 158 amino acids and has a molecular weight of ~16.4kDa.

Interactions
There are not many known interacting proteins with Cystin-1. Table 1 shows just a few possible interactions. Table 1. Interactions with Cystin-1 based on affinity chromatography technology from Alliance of Genome Resources.

Subcellular Location
Based on protein interactions with UNC119B, Cystin-1 is predicted to be localized within the cilia of the cell. How this protein makes its way to the cilia is still unknown.

Paralogs
There are currently no known paralog of Cystin-1 within humans.

Orthologs
Orthologs of Cystin-1 were found in vertebrates, but not invertebrates. Table 2. Species that have the Cystin-1 ortholog