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
337105372021Downregulation of GABA Transporter 3 (GAT3) is Associated with Deficient Oxidative GABA Metabolism in Human Induced Pluripotent Stem Cell-Derived Astrocytes in Alzheimer's Disease.7
337105372021Downregulation of GABA Transporter 3 (GAT3) is Associated with Deficient Oxidative GABA Metabolism in Human Induced Pluripotent Stem Cell-Derived Astrocytes in Alzheimer's Disease.7
323017302020GAT-1 (rs2697153) and GAT-3 (rs2272400) polymorphisms are associated with febrile seizures and temporal lobe epilepsy.6
323017302020GAT-1 (rs2697153) and GAT-3 (rs2272400) polymorphisms are associated with febrile seizures and temporal lobe epilepsy.6
297358172018GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly.2
299301312018A molecular mechanism for choosing alcohol over an alternative reward.101
297358172018GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly.2
299301312018A molecular mechanism for choosing alcohol over an alternative reward.101
262125822015Hippocampal GABA transporter distribution in patients with temporal lobe epilepsy and hippocampal sclerosis.7
262125822015Hippocampal GABA transporter distribution in patients with temporal lobe epilepsy and hippocampal sclerosis.7
237958612014Gaba transporter SLC6A11 gene polymorphism associated with tardive dyskinesia.5
2525609920143p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.19
237958612014Gaba transporter SLC6A11 gene polymorphism associated with tardive dyskinesia.5
2525609920143p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.19
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-(solute-carrier-family-6-member-11)