SLC24A5 Gene Summary [Human]
This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SLC24A5 |
| Official Name | solute carrier family 24 member 5 [Source:HGNC Symbol;Acc:HGNC:20611] |
| Ensembl ID | ENSG00000188467 |
| Bio databases IDs | |
| Aliases | solute carrier family 24 member 5, oculocutaneous albinism 6 (autosomal recessive) |
| Synonyms | F630045L20RIK, JSX, NCKX5, NCX5, OCA6, SHEP4, solute carrier family 24 member 5, solute carrier family 24, member 5 |
| 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 SLC24A5 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 ion transporter
- calcium, potassium:sodium antiporter
- Sodium/calcium exchanger protein
- protein binding
- K+-dependent Na+/Ca+ exchanger related-protein
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- cellular membrane
- trans Golgi network
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC24A5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- calcium ion import
- negative regulation of melanin biosynthetic process
- melanin biosynthetic process
- ion transport
- melanocyte differentiation
- potassium ion transmembrane transport
- ion transmembrane transport
- calcium ion transmembrane transport
- sodium ion transmembrane transport
- cellular calcium ion homeostasis
Cellular Component
Where in the cell the gene product is active
- trans-Golgi network
- melanosome
- trans-Golgi network membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium channel activity
- calcium, potassium:sodium antiporter activity
- symporter activity