SLC6A1 Gene Summary [Human]
The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]
Details
| Type | Protein Coding |
| Official Symbol | SLC6A1 |
| Official Name | solute carrier family 6 member 1 [Source:HGNC Symbol;Acc:HGNC:11042] |
| Ensembl ID | ENSG00000157103 |
| Bio databases IDs | |
| Aliases | solute carrier family 6 member 1, GABA transporter 1 |
| Synonyms | A730043E01, GABATHG, GABATR, Gabt, GABT1, GAT-1, hGAT-1, MAE, solute carrier family 6 member 1, solute carrier family 6 (neurotransmitter transporter, GABA), member 1, XT-1, Xtrp1, γ aminobutyric acid transporter |
| 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 SLC6A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- sodium:chloride symporter
- cytoplasmic domain
- Sodium:neurotransmitter symporter family
- sodium:amino acid transporter
- leucine zipper domain
- protein binding
- gamma-aminobutyrate transporter
- Solute carrier families 5 and 6-like; solute binding domain
- identical protein binding
- GABA:sodium symporter
- transporter
Pathways
Biological processes and signaling networks where the SLC6A1 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
- schizophrenia
- anxiety disorder
- myoclonic-astatic epilepsy
- experimental autoimmune encephalomyelitis
- Alzheimer disease
- refractive error
- obesity
- SLC6A1-related disorder
- hereditary disorder
- generalized anxiety disorder
role in cell
- expression in
- proliferation
- phosphorylation in
- organization
- incorporation in
- transport in
- cell division
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
- endosomes
- vesicles
- apical membrane
- presynaptic membrane
- postsynaptic membrane
- neurites
- nerve ending
- synapse
- perikaryon
- axons
- postsynaptic density
- presynaptic terminals
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC6A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of gamma-aminobutyric acid secretion
- synapse organization
- response to purine-containing compound
- gamma-aminobutyric acid import
- response to cocaine
- synaptic transmission
- associative learning
- amino acid transport
- memory
- response to toxin
- response to sucrose stimulus
- negative regulation of synaptic transmission, GABAergic
- response to calcium ion
- gamma-aminobutyric acid uptake involved in synaptic transmission
- response to estradiol stimulus
- sodium ion transmembrane transport
- response to lead ion
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- postsynaptic membrane
- membrane
- neuronal cell body
- axon
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- sodium:chloride symporter activity
- identical protein binding
- protein binding
- metal ion binding
- L-gamma-aminobutyric acid transmembrane transporter activity
- gamma-aminobutyric acid:sodium symporter activity