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SLC6A1 Antibody

  • 中文名称：
    SLC6A1兔多克隆抗体
  • 货号：
    CSB-PA935504
  • 规格：
    ￥1100
  • 图片：
    • The image on the left is immunohistochemistry of paraffin-embedded Human brain tissue using CSB-PA935504(SLC6A1 Antibody) at dilution 1/20, on the right is treated with synthetic peptide. (Original magnification: ×200)
    • The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA935504(SLC6A1 Antibody) at dilution 1/20, on the right is treated with synthetic peptide. (Original magnification: ×200)
    • Gel: 6%SDS-PAGE, Lysate: 40 μg, Lane: HepG2 cells, Primary antibody: CSB-PA935504(SLC6A1 Antibody) at dilution 1/200, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 5 minutes
  • 其他：

产品详情

  • Uniprot No.：
    P30531
  • 基因名：
    SLC6A1
  • 别名：
    GABATHG antibody; GABATR antibody; GABT 1 antibody; GABT1 antibody; GAT-1 antibody; GAT1 antibody; SC6A1_HUMAN antibody; Slc6a1 antibody; Sodium and chloride dependent GABA transporter 1 antibody; Sodium- and chloride-dependent GABA transporter 1 antibody; Solute carrier family 6 (neurotransmitter transporter GABA) member 1 antibody; Solute carrier family 6 member 1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Synthetic peptide of Human SLC6A1
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen affinity purification
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    ELISA 1:1000-1:2000
    WB 1:200-1:1000
    IHC 1:25-1:100
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Myoclonic-atonic epilepsy (MAE)
  • 亚细胞定位：
    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
  • 数据库链接：

    HGNC: 11042

    OMIM: 137165

    KEGG: hsa:6529

    STRING: 9606.ENSP00000287766

    UniGene: Hs.443874