SLC6A11 (solute carrier family 6 member 11)

2014-11-01  

Identity

HGNC
LOCATION
3p25.3
LOCUSID
ALIAS
GAT-3,GAT3,GAT4

Other Information

Locus ID:

NCBI: 6538
MIM: 607952
HGNC: 11044
Ensembl: ENSG00000132164

Variants:

dbSNP: 6538
ClinVar: 6538
TCGA: ENSG00000132164
COSMIC: SLC6A11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132164ENST00000254488P48066
ENSG00000132164ENST00000454147P48066

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
GABA synthesis, release, reuptake and degradationREACTOMER-HSA-888590
Reuptake of GABAREACTOMER-HSA-888593
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
Na+/Cl- dependent neurotransmitter transportersREACTOMER-HSA-442660
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Creatine metabolismREACTOMER-HSA-71288
Metabolism of polyaminesREACTOMER-HSA-351202

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
299301312018A molecular mechanism for choosing alcohol over an alternative reward.25
183349162008Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia.22
2525609920143p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.9
194505492009Substrate-Na+ complex formation: coupling mechanism for gamma-aminobutyrate symporters.5
217760012011Association of a synonymous GAT3 polymorphism with antiepileptic drug pharmacoresistance.3
262125822015Hippocampal GABA transporter distribution in patients with temporal lobe epilepsy and hippocampal sclerosis.3
232253412013Development and validation of an LC-ESI-MS/MS quantification method for a potential γ-aminobutyric acid transporter 3 (GAT3) marker and its application in preliminary MS binding assays.2

Citation

Dessen P

SLC6A11 (solute carrier family 6 member 11)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73468/slc6a11