Property Summary

NCBI Gene PubMed Count 56
Grant Count 103
R01 Count 66
Funding $11,370,262.84
PubMed Score 706.36
PubTator Score 192.74

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P30531 Q8N4K8 GAT-1
Symbols MAE
GAT1
GABATR
GABATHG

Gene

PANTHER Protein Class (2)

MLP Assay (10)

AID Type Active / Inconclusive / Inactive Description
686924 other 0 / 0 / 1 ML347 Eurofin Panel Assay for BMP Inhibitor (Probe Compound)
686925 other 0 / 0 / 1 ML352 Eurofin Panel Assay for Choline Transporter Inhibitor (Probe Compound)
686926 other 0 / 0 / 1 ML354 Eurofin Panel Assay for PAR4 Antagonists Inhibitor (Probe Compound)
686927 other 0 / 0 / 1 ML353 Eurofin Panel Assay for mGlu5 SAM Inhibitor (Probe Compound)
743249 screening 1 / 0 / 0 Development of the First Potent, Selective and CNS penetrant M5 Negative Allosteric Modulator (NAM)
743250 screening 1 / 0 / 0 Discovery and characterization of a small molecule allosteric agonists of mas-related G-Protein coupled receptor X1 ( MrgX1)
743251 screening 1 / 0 / 0 Development of a novel orthosteric Muscarinic 5 (M5) antagonist possessing a hig degree of muscarinic subtype selectivity
743252 screening 1 / 0 / 0 Development of the first CNS penetrant Muscarinic 5 (M5) Positive Allosteric Modulator based on a novel non-isatin core
743435 other 0 / 0 / 0 Development of inhibitors for Dopamine D4 Receptors: Eurofin Panel Assay Results
743437 other 0 / 0 / 0 Development of inhibitors for PLD2 (Eurofin Panel Assay Results)

Gene RIF (38)

PMID Text
26727527 Results show that SLC6A1 minor genotypes/alleles were protective against risk for alcoholism in 3 ethnically diverse cohorts.
26212582 Protein expression as assessed by Western blot showed that GABA-transporter 1 was equally expressed in mild and severe hippocampal sclerosis
26081443 Genome-wide significant associations were highly biological plausible, including associations within GABA transporter 1, SLC6A1 (solute carrier family 6, member 1), and exonic hits in LOC100129340 (mitofusin-1-like
25865495 targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE).
25824654 Evidence for a Revised Ion/Substrate Coupling Stoichiometry of GABA Transporters.
25339171 Cysteine mutagenesis of GAT-1 pointed to conformationally sensitive proximity of extracellular loops 2 and 4 in this protein.
25256099 3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.
25143384 The aromatic and charge pairs of the thin extracellular gate of the GABA transporter GAT-1 are differently impacted by mutation.
23288838 a functional interaction of the external and internal gates of GAT-1 is essential for transport
22737235 analysis of binding and translocation processes in the GABA transporter
More...

AA Sequence

MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRF      1 - 70
PYLCGKNGGGAFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYY     71 - 140
IVIISWAIYYLYNSFTTTLPWKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQI    141 - 210
RWPLAITLAIAWILVYFCIWKGVGWTGKVVYFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLS    211 - 280
DSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVTK    281 - 350
RSIADVAASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCTVEGFITALVDEYPRLLRNRR    351 - 420
ELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRFYDNIQEMVGS    421 - 490
RPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLK    491 - 560
GSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI                                   561 - 599
//

Text Mined References (58)

PMID Year Title
26727527 2016 GABBR1 and SLC6A1, Two Genes Involved in Modulation of GABA Synaptic Transmission, Influence Risk for Alcoholism: Results from Three Ethnically Diverse Populations.
26212582 2015 Hippocampal GABA transporter distribution in patients with temporal lobe epilepsy and hippocampal sclerosis.
26081443 2015 Genome-Wide Meta-Analysis of Longitudinal Alcohol Consumption Across Youth and Early Adulthood.
25865495 2015 Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
25824654 2015 Evidence for a Revised Ion/Substrate Coupling Stoichiometry of GABA Transporters.
25339171 2014 Conformationally sensitive proximity of extracellular loops 2 and 4 of the ?-aminobutyric acid (GABA) transporter GAT-1 inferred from paired cysteine mutagenesis.
25256099 2014 3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.
25143384 2014 The aromatic and charge pairs of the thin extracellular gate of the ?-aminobutyric acid transporter GAT-1 are differently impacted by mutation.
23288838 2013 Functional defects in the external and internal thin gates of the ?-aminobutyric acid (GABA) transporter GAT-1 can compensate each other.
22737235 2012 A steered molecular dynamics study of binding and translocation processes in the GABA transporter.
More...