SLC6A12 Gene Summary [Human]
Enables monocarboxylic acid transmembrane transporter activity. Involved in monocarboxylic acid transport. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be active in neuron projection. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | SLC6A12 |
| Official Name | solute carrier family 6 member 12 [Source:HGNC Symbol;Acc:HGNC:11045] |
| Ensembl ID | ENSG00000111181 |
| Bio databases IDs | |
| Aliases | solute carrier family 6 member 12, betaine/GABA transporter-1 |
| Synonyms | BETAINE TRANSPORTER, BGT-1, Gat1, GAT2, RNU28927, solute carrier family 6 member 12, VGAT |
| 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 SLC6A12 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:neurotransmitter symporter family
- protein binding
- monocarboxylic acid transporter
- Solute carrier families 5 and 6-like; solute binding domain
- GABA:sodium symporter
- amino acid transporter
- transporter
Pathways
Biological processes and signaling networks where the SLC6A12 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
- social anxiety disorder
- partial seizure
- generalized anxiety disorder
- epilepsy
- anxiety disorder
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
- synaptic vesicles
- synapse
- presynaptic terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC6A12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycine betaine transport
- monocarboxylic acid transport
- gamma-aminobutyric acid uptake involved in synaptic transmission
- sodium ion transmembrane transport
- gamma-aminobutyric acid transport
- amino acid transport
- amino acid transmembrane transport
Cellular Component
Where in the cell the gene product is active
- membrane
- cell projection
- basolateral plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- amino acid transmembrane transporter activity
- gamma-aminobutyric acid:sodium symporter activity
- monocarboxylic acid transmembrane transporter activity