SLC6A11
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| solute carrier family 6 member 11 | MIM:607952 | Ensembl:ENSG00000132164 | HGNC:HGNC:11044 | PA35907 | 3p25.3 |
GO terms in SLC6A11
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0007420 | brain development |
| BP | IEA | GO:0015812 | gamma-aminobutyric acid transport |
| BP | IBA | GO:0035725 | sodium ion transmembrane transport |
| BP | IEA | GO:0042493 | response to drug |
| BP | IEA | GO:0055085 | transmembrane transport |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0042995 | cell projection |
| CC | IBA | GO:0043005 | neuron projection |
| MF | IBA | GO:0005215 | transporter activity |
| MF | IBA | GO:0005332 | gamma-aminobutyric acid:sodium symporter activity |
| MF | TAS | GO:0005332 | gamma-aminobutyric acid:sodium symporter activity |
| MF | IBA | GO:0042165 | neurotransmitter binding |
| MF | IEA | GO:0042165 | neurotransmitter binding |
Gene expression in normal tissue: SLC6A11
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SLC6A11
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112310 | Neurotransmitter release cycle |
| reactome | R-HSA-112315 | Transmission across Chemical Synapses |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-351202 | Metabolism of polyamines |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-425366 | Transport of bile salts and organic acids, metal ions and amine compounds |
| reactome | R-HSA-425407 | SLC-mediated transmembrane transport |
| reactome | R-HSA-442660 | Na+/Cl- dependent neurotransmitter transporters |
| reactome | R-HSA-71288 | Creatine metabolism |
| reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
| reactome | R-HSA-888590 | GABA synthesis, release, reuptake and degradation |
| reactome | R-HSA-888593 | Reuptake of GABA |
| pharmgkb | PA165111376 | Benzodiazepine Pathway, Pharmacodynamics |
| kegg | hsa04727 | GABAergic synapse - Homo sapiens (human) |
| wikipathways | WP2882 | Nuclear Receptors Meta-Pathway |
| wikipathways | WP2884 | NRF2 pathway |
| wikipathways | WP4159 | GABA receptor Signaling |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SLC6A11
CLASSFICATION
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