Recombinant Human Sodium- and chloride-dependent GABA transporter 1 (SLC6A1), partial

Code CSB-YP021687HU
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Source Yeast
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Code CSB-EP021687HU
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Source E.coli
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Code CSB-EP021687HU-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP021687HU
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Source Baculovirus
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Code CSB-MP021687HU
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
SLC6A1
Uniprot No.
Alternative Names
GABATHG; GABATR; GABT 1; GABT1; GAT-1; GAT1; SC6A1_HUMAN; Slc6a1; Sodium and chloride dependent GABA transporter 1; Sodium- and chloride-dependent GABA transporter 1; Solute carrier family 6 (neurotransmitter transporter GABA) member 1; Solute carrier family 6 member 1
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

Customer Reviews and Q&A

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Target Background

Function
Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals.
Gene References into Functions
  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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Involvement in disease
Myoclonic-atonic epilepsy (MAE)
Subcellular Location
Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Cell junction, synapse, presynapse.
Protein Families
Sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family, SLC6A1 subfamily
Database Links

HGNC: 11042

OMIM: 137165

KEGG: hsa:6529

STRING: 9606.ENSP00000287766

UniGene: Hs.443874

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