SLC3A1 Gene Summary [Human]
This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SLC3A1 |
| Official Name | solute carrier family 3 member 1 [Source:HGNC Symbol;Acc:HGNC:11025] |
| Ensembl ID | ENSG00000138079 |
| Bio databases IDs | |
| Aliases | solute carrier family 3 member 1 |
| Synonyms | ATR1, CSNU1, D2, D2H, NAA-Tr, NBAT, NTAA, RBAT, solute carrier family 3 member 1, solute carrier family 3, 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 SLC3A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Solute carrier family 3 member 2 N-terminus
- binding protein
- Alpha amylase catalytic domain family
- Alpha amylase, catalytic domain
- protein binding
- basic amino acid transporter
- amino acid transporter
- protein heterodimerization
- transporter
- cystine transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cystinuria
- hereditary disorder
- endometriosis
- proteinuria
- pervasive developmental disorder
- diabetes mellitus
- kidney stones
regulates
- L-serine
- luciferase reporter gene
- SLC7A13
- asparagine
- amino acids
- basic amino acid
- L-glutamic acid
- L-cystine
- L-lysine
- L-aspartic acid
role in cell
- expression in
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
- membrane fraction
- Cytoplasm
- cellular membrane
- vacuole
- apical membrane
- brush border
- membrane processes
- microvilli
- perikaryon
- axons
- axon terminals
- brush border membrane vesicles
- podocyte slit diaphragm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC3A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carbohydrate metabolic process
- gene expression
- basic amino acid transport
- L-glutamate transport
- amino acid transport
- L-cystine transport
- aspartate transport
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- brush border membrane
- membrane
- vacuolar membrane
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein heterodimerization activity
- basic amino acid transmembrane transporter activity
- L-cystine transmembrane transporter activity
- amino acid transmembrane transporter activity