SLC6A1 Antibody

1. Most patients carrying pathogenic SLC6A1 variants have an myoclonic atonic epilepsy phenotype with language delay and mild/moderate intellectual disability before epilepsy onset. However, intellectual disability alone or associated with focal epilepsy can also be observed. PMID: 29315614
2. results suggest that selected SLC6A1 gene variants may have a significant effect on the ADHD risk. PMID: 28442423
3. the "extra" residue in transmembrane domain 10 of the GABA transporter GAT-1 provides extra bulk, probably in the form of a pi-helix, which is required for stringent gating and tight coupling of ion and substrate fluxes in the GABA transporter family. PMID: 28213519
4. Results show that SLC6A1 minor genotypes/alleles were protective against risk for alcoholism in 3 ethnically diverse cohorts. PMID: 26727527
5. Protein expression as assessed by Western blot showed that GABA-transporter 1 was equally expressed in mild and severe hippocampal sclerosis PMID: 26212582
6. Evidence for a Revised Ion/Substrate Coupling Stoichiometry of GABA Transporters. PMID: 25824654
7. 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 PMID: 26081443
8. 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). PMID: 25865495
9. 3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior. PMID: 25256099
10. Cysteine mutagenesis of GAT-1 pointed to conformationally sensitive proximity of extracellular loops 2 and 4 in this protein. PMID: 25339171
11. The aromatic and charge pairs of the thin extracellular gate of the GABA transporter GAT-1 are differently impacted by mutation. PMID: 25143384
12. a functional interaction of the external and internal gates of GAT-1 is essential for transport PMID: 23288838
13. analysis of binding and translocation processes in the GABA transporter PMID: 22737235
14. TM10 of GAT-1 lines an accessibility pathway from the extracellular space into the binding pocket and plays a role in the opening and closing of the extracellular transporter gate. PMID: 22235131
15. GABA Transporter Mutagenesis Database (GATMD), a web-accessible, relational database of manually annotated biochemical, functional and pharmacological data reported on GAT1. PMID: 21131297
16. A glutamine residue conserved in the neurotransmitter:sodium:symporters is essential for the interaction of chloride with the GABA transporter GAT-1. PMID: 21098479
17. This chapter reviews data suggesting that neurogliaform cells produce electrophysiological effects onto other neurons in the cortical cell network via GABA(B)R-mediated volume transmission that is highly regulated by GAT1 activity. PMID: 20655483
18. A 46 bp cis-regulator in the promoter sequence is responsible for stimulation of bone morphogenetic protein-2 (BMP2) on gat1 expression in cerebral cortex. PMID: 20237276
19. The results suggest tight coupling of GAT1-mediated charge flux and GABA flux. PMID: 19622377
20. role of transmembrane domain I in transition between cation leak and transport modes PMID: 12446715
21. part of extracellular loop IV of GAT1 is conformationally sensitive, and its modification selectively abolishes the interaction of the transporter with GABA PMID: 12925537
22. the extracellular part of TMD I is conformationally sensitive, lines the permeation pathway, and forms a more extended structure than expected from a membrane-embedded alpha-helix. PMID: 14744863
23. GAT1 over-expressing transgenic mice display cognitive deterioration in associative learning and new object recognition retention, compared with wild-type littermates. PMID: 15106822
24. GAT1 oligomerization is driven by an interplay of polar and hydrophobic interactions in transmembrane helix II PMID: 15496410
25. transmembrane domains 1 and 3 come in close proximity within the transporter monomer PMID: 15905165
26. there are substantial differences in the distribution and density of GAT-1-ir axon terminals between areas and layers of the human neocortex PMID: 17099065
27. concentrative endoplasmic reticulum-export is contingent on a direct interaction of GAT1 with Sec24D. PMID: 17210573
28. Weight reduction with sibutramine is associated with altered gastric functions and increased peptide YY and is significantly associated with SLC6A4 genotype. PMID: 17544870
29. Owing to the low level of LD and presence of recombination hotspots, SLC6A1 may be an example of a problematic gene for association and haplotype tagging-based genetic studies PMID: 17941974
30. It might therefore represent the principle, sufficient for sorting out less-effective or non-GAT ligands such as beta-Pro, (S)-nipecotic acid, (R)-baclofen, Glu, and Leu. PMID: 17967412
31. The temperature and voltage dependence of GAT1 were used to estimate the physiological turnover rate to be 79-93 s(-1) (37 degrees C, -50 to -90 mV). PMID: 17994179
32. Interaction with calnexin led to accumulation of GAT1 in concentric bodies corresponding to previously described multilamellar ER-derived structures. PMID: 18367207
33. These data indicate a high load of genetic variance within SLC6A1 on pathological anxiety PMID: 18607529
34. the insertion polymorphism leads to increased SLC6A1 promoter activity because, in part, of creation of an enhancer element when present as multiple copies PMID: 19077666
35. the transmembrane domain 8 of the {gamma}-aminobutyric acid transporter GAT-1 lines a cytoplasmic accessibility pathway into its binding pocket PMID: 19201752

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HGNC: 11042

OMIM: 137165

KEGG: hsa:6529

STRING: 9606.ENSP00000287766

UniGene: Hs.443874