SLC1A4 Gene Summary [Human]
The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]
Details
| Type | Processed Transcript |
| Official Symbol | SLC1A4 |
| Official Name | solute carrier family 1 member 4 [Source:HGNC Symbol;Acc:HGNC:10942] |
| Ensembl ID | ENSG00000115902 |
| Bio databases IDs | |
| Aliases | solute carrier family 1 member 4, alanine/serine/cysteine/threonine transporter |
| Synonyms | ASCT-1, Neutral amino acid transporter, Neutral amino acid transporter a, SATT, solute carrier family 1 (glutamate/neutral amino acid transporter), member 4, solute carrier family 1 member 4, SPATCCM |
| 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 SLC1A4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- threonine transporter
- Sodium:dicarboxylate symporter family
- alanine transporter
- glutamine transporter
- L-amino acid transporter
- monocarboxylic acid transporter
- neutral amino acid transporter
- cystine transporter
- proline transporter
- aspartate transporter
- chloride channel
- TcyP
- serine transporter
- amino acid transporter
- transporter
Pathways
Biological processes and signaling networks where the SLC1A4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- epithelial cancer
- amyotrophic lateral sclerosis
- spastic tetraplegia, thin corpus callosum, and progressive microcephaly
- hypoalbuminemia
- spinocerebellar ataxia type 7
- Huntington disease
- renal cell carcinoma
- renal cell cancer
- hepatocellular carcinoma
regulates
- L-proline
- L-cysteine
- amino acids
- L-serine
- L-alanine
- L-cystine
- L-glutamine
- hydroxyproline
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
- intracellular space
- cellular membrane
- centrosome
- intermediate filaments
- actin bundles
- cytoplasmic face of plasma membrane
- perisomatic process
- cisternae
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC1A4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- amino acid transport
- glutamine transport
- cognition
- L-alanine transport
- hydroxyproline transport
- threonine transport
- L-serine transport
- L-glutamate transport
- proline transport
- L-cystine transport
- proline transmembrane transport
- synaptic transmission, glutamatergic
Cellular Component
Where in the cell the gene product is active
- centrosome
- extracellular vesicular exosome
- melanosome
- membrane
- intermediate filament
- synapse
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- L-hydroxyproline transmembrane transporter activity
- L-glutamine transmembrane transporter activity
- L-threonine transmembrane transporter activity
- L-cystine transmembrane transporter activity
- symporter activity
- L-serine transmembrane transporter activity
- L-aspartate transmembrane transporter activity
- amino acid transmembrane transporter activity
- L-proline transmembrane transporter activity
- chloride channel activity
- L-alanine transmembrane transporter activity