SLC6A11 Gene Summary [Human]
The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | SLC6A11 |
| Official Name | solute carrier family 6 member 11 [Source:HGNC Symbol;Acc:HGNC:11044] |
| Ensembl ID | ENSG00000132164 |
| Bio databases IDs | |
| Aliases | solute carrier family 6 member 11, GABA transporter 3 |
| Synonyms | D930045G19Rik, E130202I16Rik, GABT3, GABT4, GAT-3, GAT4, solute carrier family 6 member 11, solute carrier family 6 (neurotransmitter transporter, GABA), member 11 |
| 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 SLC6A11 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
- taurine:sodium symporter
- sodium:amino acid transporter
- monocarboxylic acid transporter
- Solute carrier families 5 and 6-like; solute binding domain
- GABA:sodium symporter
- transporter
- amino acid binding
Pathways
Biological processes and signaling networks where the SLC6A11 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
- anxiety disorder
- social anxiety disorder
- generalized anxiety disorder
- hyperammonemia
- epilepsy
- partial seizure
- vascular dementia
regulates
- GABA
- beta-alanine
- neurotransmitter
- monocarboxylic acid
role in cell
- transport 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
- cellular membrane
- presynaptic membrane
- postsynaptic membrane
- synapse
- cellular protrusions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC6A11 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- monocarboxylic acid transport
- gamma-aminobutyric acid uptake involved in synaptic transmission
- sodium ion transmembrane transport
- response to xenobiotic stimulus
- amino acid transport
- taurine transport
- amino acid transmembrane transport
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- postsynaptic membrane
- membrane
- cell projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- gamma-aminobutyric acid:sodium symporter activity
- amino acid binding
- taurine:sodium symporter activity
- monocarboxylic acid transmembrane transporter activity