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  4. Recombinant Human High affinity choline transporter 1 (SLC5A7), partial

Recombinant Human High affinity choline transporter 1 (SLC5A7), partial

  • 货号：
    CSB-YP861976HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP861976HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP861976HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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：
  • 货号：
    CSB-BP861976HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP861976HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    SLC5A7
  • Uniprot No.：
  • 别名：
    SLC5A7; CHT1; High affinity choline transporter 1; Hemicholinium-3-sensitive choline transporter; CHT; Solute carrier family 5 member 7
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 功能：
    Transmembrane transporter that imports choline from the extracellular space into the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent.
  • 基因功能参考文献：
    1. Lack of association between SLC5A7 polymorphisms and Tourette syndrome in a Chinese Han population PMID: 28830823
    2. Here we describe an autosomal recessive presynaptic congenital myasthenic syndrome presenting with a broad clinical phenotype due to homozygous SLC5a7 missense mutations. Phenotype ranges from classical presentation of a congenital myasthenic syndrome in one patient (p.Pro210Leu), to severe neurodevelopmental delay with brain atrophy (p.Ser94Arg) and extend the clinical outcomes to infantile lethality (p.Val112Glu). PMID: 29088354
    3. Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea: this study broadens the clinical spectrum of human diseases resulting from reduced CHT activity and highlights the complexity of cholinergic metabolism at the synapse PMID: 27569547
    4. These data show that acute exposure of depolarized cells to insulin is coupled to transiently increased levels of CHT proteins at the cell surface, and that this is attenuated by chronic insulin exposure. PMID: 26161852
    5. This study demonstrated a specific impairment in cognitive control associated with the Ile89Val polymorphism of SLC5A7. PMID: 24666128
    6. This mini-review discusses structural requirements for both organic cationic transporters OCT1 and OCT2 versus the blood-brain barrier choline transporter (BBBCHT) are discussed and compared. PMID: 22483271
    7. [review] The critical role of CHT in maintaining cholinergic transmission indicates that it could be a target for therapeutic intervention to promote acetylcholine synthesis, the accomplishment of which has not been adequately addressed. PMID: 22483273
    8. In transgenic animals with a heterozygous deletion of the choline transporter there is impairment in performing sustained attention tasks. PMID: 23392663
    9. CHT1 forms a homo-oligomer on the cell surface in cultured cells. PMID: 23132865
    10. Our findings compel consideration of mutations in SLC5A7 or its functional partners in relation to unexplained motor neuronopathies. PMID: 23141292
    11. Polymorphic variation in the CHT1 gene can predict early, subclinical measures of carotid atherosclerosis. PMID: 21337021
    12. Nedd4-2 mediated ubiquitination regulates the cell surface expression of CHT1 in HEK293 cells. PMID: 22361880
    13. overexpressed ChAT enhanced transcription of the CHT1 gene but not the VACHT gene PMID: 21163949
    14. The colocalisation of CHT1 immunoreactivity with VAChT immunoreactivity in cholinergic enteric nerves in the human bowel thus suggests that CHT1 represents another marker of cholinergic nerves. PMID: 20490865
    15. Results describe the identification and functional characterization of a single nucleotide polymorphism in the high affinity choline transporter (CHT1) gene. PMID: 12237312
    16. high-affinity choline transporter, choline transporter 1, in nerve fibers and epithelial cells in the human and rat skin supporting the pivotal role of this transporter in both the neuronal and non-neuronal cholinergic system of the skin. PMID: 12406342
    17. CHT1 binds to Par-4 and inhibits choline uptake when its incorporation is reduced on the cell surface PMID: 15090548
    18. CHT1 variation is related to differences in a distributed corticolimbic circuitry mediating behavioral and physiologic arousal. PMID: 16876130
    19. The charge/choline ratio of hCHT varies from 10e/choline at -80 mV to 3e/choline at -20 mV. Choline uptake & choline-induced current are Na+ & Cl- dependent. External protons reduce hCHT current, transport, & binding with a similar pKa of 7.4. PMID: 17005849

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  • 相关疾病：
    Neuronopathy, distal hereditary motor, 7A (HMN7A); Myasthenic syndrome, congenital, 20, presynaptic (CMS20)
  • 亚细胞定位：
    Membrane; Multi-pass membrane protein. Cell membrane. Cell junction, synapse.
  • 蛋白家族：
    Sodium:solute symporter (SSF) (TC 2.A.21) family
  • 组织特异性：
    Expressed in putamen, spinal cord and medulla. Specific for cholinergic neurons.
  • 数据库链接：

    HGNC: 14025

    OMIM: 158580

    KEGG: hsa:60482

    STRING: 9606.ENSP00000264047

    UniGene: Hs.287758