SLC6A11
Solute Carrier Family 6 Member 11
Gene Information Card
| Symbol | SLC6A11 |
|---|---|
| Full Name | Solute Carrier Family 6 Member 11 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 6538 ncbi.nlm.nih.gov/gene/6538 |
| Ensembl ID | ENSG00000132164 |
| UniProt ID | P48066 |
| OMIM ID | 607594 |
| HGNC ID | 11046 |
| Aliases | GAT3, GAT-3, GABAT3 |
Description
SLC6A11 (Solute Carrier Family 6 Member 11) encodes the GABA transporter 3 (GAT3), a high-affinity sodium- and chloride-dependent transporter responsible for the reuptake of gamma-aminobutyric acid (GABA) from the synaptic cleft into glial cells and neurons. This transporter plays a critical role in terminating GABAergic neurotransmission and maintaining inhibitory tone in the central nervous system. SLC6A11 is predominantly expressed in the brain, particularly in astrocytes and glial cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, idiopathic generalized | Altered GABA reuptake may contribute to neuronal hyperexcitability | ClinVar, OMIM |
| Autism spectrum disorder | Dysregulation of GABAergic signaling linked to SLC6A11 variants | ClinVar, NCBI |
| Schizophrenia | Impaired GABA transport may affect inhibitory neurotransmission | NCBI, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Cerebral cortex | 35.2 | High |
| Cerebellum | 22.1 | Medium |
| Spinal cord | 18.7 | Medium |
| Testis | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Astrocytes (primary) | 45.0 | High expression |
| SH-SY5Y | 12.3 | Moderate |
| HEK293 | 0.8 | Low |
| U87 MG | 5.6 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | 0.0002 | Reduced GABA uptake activity |
| c.845C>T (p.Thr282Met) | Missense | 0.0001 | Altered transporter kinetics |
| c.1234delA | Frameshift | 0.00005 | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or impair transporter activity lead to reduced GABA clearance, potentially increasing excitability.
Gain of Function (GOF)
Not reported for SLC6A11.
Dominant Negative (DN)
Not reported for SLC6A11.
View complete mutation data：
Gene Ontology (GO)
| • dopamine:sodium symporter activity (GO:0005330) | • sodium:chloride-dependent neurotransmitter transporter activity (GO:0005283) |
| • GABA transport (GO:0015810) | • integral component of plasma membrane (GO:0005887) |
| • chemical synaptic transmission (GO:0007268) |
Pathways
• Neurotransmitter uptake and metabolism (Reactome: R-HSA-112314)
• GABAergic synapse (KEGG: hsa04727)
• Transport of small molecules (Reactome: R-HSA-382551)
Protein Summary
The SLC6A11 protein (GAT3) is a 12-transmembrane domain transporter belonging to the SLC6 family. It mediates the electrogenic symport of GABA with two sodium ions and one chloride ion. GAT3 is primarily localized to glial cell membranes and fine processes surrounding synapses, where it regulates extracellular GABA concentrations. Its activity is essential for maintaining inhibitory balance in the brain and is a target for antiepileptic drugs such as tiagabine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC6A11 Knockout HEK293 Cell Line | EDJ-KQ5772 | Human | 6538 | Details Get a Quote |
| SLC6A11 Knockout HeLa Cell Line | EDJ-KQ54495 | Human | 6538 | Details Get a Quote |
| SLC6A11 Knockout A-549 Cell Line | EDJ-KQ62981 | Human | 6538 | Details Get a Quote |
| SLC6A11 Knockout HCT 116 Cell Line | EDJ-KQ71452 | Human | 6538 | Details Get a Quote |
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