SLC32A1 Gene Summary [Human]
The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SLC32A1 |
| Official Name | solute carrier family 32 member 1 [Source:HGNC Symbol;Acc:HGNC:11018] |
| Ensembl ID | ENSG00000101438 |
| Bio databases IDs | |
| Aliases | solute carrier family 32 member 1 |
| Synonyms | DEE114, GEFSP12, hVIAAT, LOC100364703, RUNC-47, solute carrier family 32 (GABA vesicular transporter), member 1, solute carrier family 32 member 1, VGABA, VGAT, VIAAT, VIAAT GEFSP12 |
| 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 SLC32A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- hydrogen ion transporter
- monocarboxylate porter
- glycine transporter
- antiporter
- gamma-aminobutyrate transporter
- Solute carrier families 5 and 6-like; solute binding domain
- gamma-aminobutyric acid:hydrogen symporter
- cation transporter
- amino acid transporter
- transporter
Pathways
Biological processes and signaling networks where the SLC32A1 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
- obesity
- generalized anxiety disorder
- developmental and epileptic encephalopathy type 114
- epilepsy
- cleft palate
- generalized epilepsy with febrile seizures plus type 12
- weight gain
- hypertonia
- generalized epilepsy with febrile seizures plus
- Huntington disease
role in cell
- expression in
- inhibitory postsynaptic potential
- response by
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
- synaptic plasma membrane fractions
- synaptic vesicle membrane
- GABAergic synapse
- Cytoplasm
- presynaptic regions
- cell surface
- cellular membrane
- vesicles
- synaptic vesicles
- neurites
- nerve ending
- synapse
- dense-core vesicles
- cell tip
- perikaryon
- axons
- dendrites
- axon terminals
- mossy fiber boutons
- presynaptic terminals
- clathrin-coated vesicles
- mossy fibers
- synaptic vesicle fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC32A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- beta-alanine transport
- ion transport
- gamma-aminobutyric acid import
- glycine transport
- hippocampus development
- gamma-aminobutyric acid transport
- neurotransmitter secretion
- amino acid transmembrane transport
Cellular Component
Where in the cell the gene product is active
- inhibitory synapse
- clathrin sculpted gamma-aminobutyric acid transport vesicle membrane
- synaptic vesicle
- neuron projection
- plasma membrane
- neuron projection terminus
- cell surface
- cone cell pedicle
- dendrite terminus
- dendrite
- cell tip
- presynaptic active zone
- synaptic vesicle membrane
Molecular Function
What the gene product does at the molecular level
- glycine transmembrane transporter activity
- gamma-aminobutyric acid:hydrogen symporter activity
- L-gamma-aminobutyric acid transmembrane transporter activity
- amino acid transmembrane transporter activity