SLC24A1 Gene Summary [Human]
This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Details
| Type | Retained Intron |
| Official Symbol | SLC24A1 |
| Official Name | solute carrier family 24 member 1 [Source:HGNC Symbol;Acc:HGNC:10975] |
| Ensembl ID | ENSG00000074621 |
| Bio databases IDs | |
| Aliases | solute carrier family 24 member 1 |
| Synonyms | CSNB1D, HsT17412, LOC678758, NCKX, NCKX1, RODX, solute carrier family 24 member 1, solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC24A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- calcium, potassium:sodium antiporter
- Sodium/calcium exchanger protein
- protein binding
- K+-dependent Na+/Ca+ exchanger related-protein
- K+-dependent Na+/Ca+ exchanger
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal dystrophy
- congenital stationary night blindness type 1D
- Moyamoya disease
- autosomal dominant congenital stationary night blindness type 2
- retinitis pigmentosa
- night blindness
- spinocerebellar ataxia type 7
role in cell
- abnormal morphology
- homeostasis in
- degeneration
- electrophysiology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell surface
- cellular membrane
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC24A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ion transport
- potassium ion transmembrane transport
- calcium ion transport
- calcium ion transmembrane transport
- response to light intensity
- long-term synaptic potentiation
- sodium ion transmembrane transport
- long term synaptic depression
- visual perception
- cellular calcium ion homeostasis
Cellular Component
Where in the cell the gene product is active
- membrane
- neuronal cell body
- outer membrane
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium channel activity
- calcium, potassium:sodium antiporter activity
- symporter activity