SLC24A1: Sodium/Potassium/Calcium Exchanger 1
A key regulator of retinal calcium homeostasis and visual phototransduction
Gene Information Card
| Symbol | SLC24A1 |
|---|---|
| Full Name | Solute Carrier Family 24 Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 9187 ncbi.nlm.nih.gov/gene/9187 |
| Ensembl ID | ENSG00000137868 |
| UniProt ID | O60721 |
| OMIM ID | 603617 |
| HGNC ID | 10975 |
| Aliases | NCKX1, ROD NCKX, SLC24A1 |
Description
SLC24A1 encodes the sodium/potassium/calcium exchanger NCKX1, a member of the SLC24 family of potassium-dependent sodium/calcium exchangers. NCKX1 is primarily expressed in retinal rod photoreceptors, where it plays a critical role in calcium extrusion after light-induced hyperpolarization, thereby regulating phototransduction recovery and visual adaptation. Mutations in SLC24A1 are associated with autosomal recessive congenital stationary night blindness (CSNB2B).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital stationary night blindness 2B (CSNB2B) | Loss-of-function mutations impair calcium extrusion from rod photoreceptors, disrupting phototransduction recovery and causing night blindness. | ClinVar, OMIM |
| Retinitis pigmentosa (rare association) | Potential role in photoreceptor degeneration due to calcium dysregulation; limited evidence. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High (nTPM not available for retina in GTEx) | High |
| Brain (cerebellum) | 0.2 | Low |
| Testis | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Not detected | No expression |
| Y79 (retinoblastoma) | Low | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1225C>T (p.Arg409*) | Nonsense | Rare | Loss of function |
| c.1639G>A (p.Gly547Arg) | Missense | Rare | Loss of function |
| c.2023C>T (p.Arg675Trp) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in SLC24A1 are loss-of-function, leading to impaired calcium extrusion and defective phototransduction recovery.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • calcium:sodium antiporter activity (GO:0005432) | • calcium (GO:0008273) |
| • calcium ion transport (GO:0006816) | • potassium ion transport (GO:0006813) |
| • sodium ion transport (GO:0006814) | • detection of visible light (GO:0009584) |
| • phototransduction (GO:0007602) | • integral component of membrane (GO:0016021) |
Pathways
• Phototransduction cascade (Reactome: R-HSA-2188538)
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
Protein Summary
NCKX1 is a 1099-amino acid multi-pass membrane protein with 11 transmembrane domains. It functions as a potassium-dependent sodium/calcium exchanger, utilizing the inward sodium gradient to extrude calcium from rod photoreceptor outer segments. The protein contains two large intracellular loops and is essential for maintaining low intracellular calcium levels after light stimulation. Defects in this exchanger lead to prolonged photoresponse and night blindness.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC24A1 Knockout HEK293 Cell Line | EDJ-KQ6490 | Human | 9187 | Details Get a Quote |
| SLC24A1 Knockout HeLa Cell Line | EDJ-KQ29269 | Human | 9187 | Details Get a Quote |
| SLC24A1 Knockout A-549 Cell Line | EDJ-KQ30616 | Human | 9187 | Details Get a Quote |
| SLC24A1 Knockout HCT 116 Cell Line | EDJ-KQ30617 | Human | 9187 | Details Get a Quote |
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