CYS1 Gene (Cystin 1)
Cystin 1: A key regulator of ciliary function and renal development
Gene Information Card
| Symbol | CYS1 |
|---|---|
| Full Name | Cystin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p22.2 |
| NCBI Gene ID | 192668 ncbi.nlm.nih.gov/gene/192668 |
| Ensembl ID | ENSG00000162923 |
| UniProt ID | Q8N0W4 |
| OMIM ID | 606721 |
| HGNC ID | 18561 |
| Aliases | Cystin, Cys1 |
Description
The CYS1 gene encodes cystin 1, a protein localized to the ciliary axoneme and involved in ciliary function. It is essential for normal kidney development and function. Mutations in CYS1 cause nephronophthisis type 9 (NPHP9), an autosomal recessive ciliopathy characterized by renal fibrosis and cyst formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis 9 (NPHP9) | Loss-of-function mutations disrupt ciliary signaling, leading to renal tubular degeneration and cyst formation | OMIM #613820; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Testis | 8.3 | Low |
| Brain | 5.1 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Highest in renal cell lines |
| HeLa | 6.7 | Moderate |
| HepG2 | 4.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.173C>T (p.Thr58Ile) | Missense | Rare | Loss of ciliary localization |
| c.427C>T (p.Arg143*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations (nonsense, frameshift, start loss) lead to loss of cystin 1 function, causing NPHP9.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not described; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • cilium (GO:0005929) | • ciliary basal body (GO:0036064) |
| • protein binding (GO:0005515) | • smoothened signaling pathway (GO:0007224) |
Pathways
• Ciliopathy pathway (KEGG: hsa05200)
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
Protein Summary
Cystin 1 is a 145-amino acid protein with a coiled-coil domain, localized to the ciliary axoneme. It interacts with other ciliary proteins and is required for proper ciliary signaling, particularly in renal epithelial cells. Loss of cystin 1 disrupts ciliary function, leading to nephronophthisis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYS1 Knockout HEK293 Cell Line | EDJ-KQ13087 | Human | 192668 | Details Get a Quote |
| CYS1 Knockout HeLa Cell Line | EDJ-KQ58961 | Human | 192668 | Details Get a Quote |
| CYS1 Knockout A-549 Cell Line | EDJ-KQ67448 | Human | 192668 | Details Get a Quote |
| CYS1 Knockout HCT 116 Cell Line | EDJ-KQ75843 | Human | 192668 | Details Get a Quote |
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