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

中文名稱：

人SLC6A1重組蛋白
貨號(hào)：

CSB-YP021687HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Yeast
其他：

中文名稱：

人SLC6A1重組蛋白
貨號(hào)：

CSB-EP021687HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
其他：

中文名稱：

人SLC6A1重組蛋白
貨號(hào)：

CSB-EP021687HU-B
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
共軛：

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.
其他：

中文名稱：

人SLC6A1重組蛋白
貨號(hào)：

CSB-BP021687HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

人SLC6A1重組蛋白
貨號(hào)：

CSB-MP021687HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

SLC6A1
Uniprot No.：

P30531
別名：

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
種屬：

Homo sapiens (Human)
蛋白長(zhǎng)度：

Partial
蛋白標(biāo)簽：

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.
產(chǎn)品提供形式：

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.
復(fù)溶：

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.
儲(chǔ)存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)期：

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.
貨期：

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.
注意事項(xiàng)：

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.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals.
基因功能參考文獻(xiàn)：
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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相關(guān)疾?。?/div>
Myoclonic-atonic epilepsy (MAE)
亞細(xì)胞定位：

Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Cell junction, synapse, presynapse.
蛋白家族：

Sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family, SLC6A1 subfamily
數(shù)據(jù)庫(kù)鏈接：

HGNC: 11042

OMIM: 137165

KEGG: hsa:6529

STRING: 9606.ENSP00000287766

UniGene: Hs.443874