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  4. Recombinant Human Vacuolar protein sorting-associated protein 13A (VPS13A), partial

Recombinant Human Vacuolar protein sorting-associated protein 13A (VPS13A), partial

  • 中文名称：
    人VPS13A重组蛋白
  • 货号：
    CSB-EP850425HU
  • 规格：
    ￥1344
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    VPS13A
  • Uniprot No.：
  • 别名：
    VPS13A; CHAC; KIAA0986; Vacuolar protein sorting-associated protein 13A; Chorea-acanthocytosis protein; Chorein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 来源：
    E.coli
  • 分子量：
    28.5kDa
  • 表达区域：
    3037-3140aa
  • 氨基酸序列
    RPPRFFNEDGVIRPYRLRDGTGNQMLQVMENGRFAKYKYFTHVMINKTDMLMITRRGVLFVTKGTFGQLTCEWQYSFDEFTKEPFIVHGRRLRIEAKERVKSVF
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 6xHis-SUMO-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Tris-based buffer,50% glycerol
  • 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：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Required for the formation or stabilization of ER-mitochondria contact sites which enable transfer of lipids between the ER and mitochondria. Negatively regulates lipid droplet size and motility. Required for efficient lysosomal protein degradation.
  • 基因功能参考文献：
    1. Expression of cancer-specific glycan epitopes represents an excellent opportunity for diagnostics and potentially specific detection of tumors. Here, we report four proteins (LIFR, CE350, VP13A, HPT) found in sera from pancreatic cancer patients carrying aberrant glycan structures as compared to those of controls. PMID: 28244758
    2. These results suggest that PI3P regulates the functioning of Vps13, both in protein trafficking and actin cytoskeleton organization. Attenuation of PI3P-binding ability in the mutant hVps13A protein may be one of the reasons for its mislocalization and disrupted function in cells of patients suffering from chorea-acanthocytosis . PMID: 28334785
    3. Chorein is a stimulator of Orai1 expression and thus of store operated Ca2+ entry. PMID: 27960157
    4. Patients with chorea-acanthocytosis carrying a VPS13A mutation present with focal, treatment-resistant seizures. PMID: 26813249
    5. Defective chorein is accompanied by significant structural disorganization of all cytoskeletal structures. PMID: 26316086
    6. VPS13A-depleted cells showed accumulation of autophagic markers and impaired autophagic flux PMID: 25996471
    7. Chorein is expressed in various cancer cells. In cells with high chorein expression levels chorein silencing promotes apoptotic cell death, an effect paralleled by down-regulation of PI-3K activity and BCL-2/Bax expression ratio. PMID: 25871399
    8. Discovery of new mutations may clarify the pathogenic roles of chorein in chorea-acanthocytosis as well as in the retina PMID: 23746940
    9. chorein interacts with beta-adducin and beta-actin. PMID: 24129186
    10. Data indicate functions of chorein, i.e., regulation of secretion and aggregation of blood platelets. PMID: 23568775
    11. This study demonistrated that neuroacanthocytosis disorders has heterozygotes for mutations in the VPS13A gene. PMID: 22038564
    12. Results reveal chorein as a novel powerful regulator of cytoskeletal architecture and cell survival, thus explaining erythrocyte misshape and possibly neurodegeneration in chorea-acanthocytosis. PMID: 22227296
    13. these results suggest that chorein is involved in exocytosis of dense-core vesicles. PMID: 22366033
    14. Frameshift mutations of VPS genes and losses of expression of Vps13A and Vps35 proteins are common in gastric cancers and colorectal cancers with high microsatellite instability. PMID: 21733561
    15. identified 36 pathogenic mutations of VPS13A, 20 of which were previously unreported, including two novel copy number variations PMID: 21598378
    16. A mutation was identified in the VPS13A gene, responsible for autosomal recessive chorea-acanthocytosis. PMID: 21987550
    17. Founder mutation and single-nucleotid epolymorphisms in chorea-acanthocytosis in French-Canadians. PMID: 15918062
    18. The index patient was homozygous for a 3889C>T nonsense mutation in the VPS13A gene and presented with a typical ChAc phenotype. PMID: 17673232
    19. A Mexican family, two sister, after mutation screening of the VPS13A gene revealed homozygosity for the frameshift mutation c.3556_3557dupAC in exon 33. PMID: 17998451

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  • 相关疾病：
    Choreoacanthocytosis (CHAC)
  • 亚细胞定位：
    Mitochondrion outer membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein. Lysosome membrane; Peripheral membrane protein. Lipid droplet. Golgi apparatus. Cytoplasmic vesicle, secretory vesicle, neuronal dense core vesicle.
  • 蛋白家族：
    VPS13 family
  • 组织特异性：
    Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney.
  • 数据库链接：

    HGNC: 1908

    OMIM: 200150

    KEGG: hsa:23230

    STRING: 9606.ENSP00000353422

    UniGene: Hs.459790