SLC7A7 Gene Summary [Human]
The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
Details
| Type | Protein Coding |
| Official Symbol | SLC7A7 |
| Official Name | solute carrier family 7 member 7 [Source:HGNC Symbol;Acc:HGNC:11065] |
| Ensembl ID | ENSG00000155465 |
| Bio databases IDs | |
| Aliases | solute carrier family 7 member 7 |
| Synonyms | Glycoprotein Associated Amino Acid Transporter Y, LAT3, LPI, MOP-2, my+lat1, SLCA9, solute carrier family 7 (cationic amino acid transporter, y+ system), member 7, solute carrier family 7 member 7, Y+LAT1 |
| 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 SLC7A7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- organic cation transporter
- amino acid permease (yeast)
- transporter, basic amino acid/polyamine antiporter (APA) family
- amino acid permease
- L-type amino acid transporter
- L-amino acid transporter
- protein binding
- basic amino acid transporter
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- lysinuric protein intolerance
- diabetes mellitus
- autoinflammatory disorder
- angiitis of the central nervous system
regulates
- L-arginine
- basic amino acid
role in cell
- growth
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
- basolateral membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC7A7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of arginine metabolic process
- amino acid transmembrane transport
- leucine transport
Cellular Component
Where in the cell the gene product is active
- basolateral plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- L-amino acid transmembrane transporter activity
- protein binding
- basic amino acid transmembrane transporter activity