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  4. Recombinant Human WASH complex subunit strumpellin (KIAA0196), partial

Recombinant Human WASH complex subunit strumpellin (KIAA0196), partial

  • 中文名称：
    人WASHC5重组蛋白
  • 货号：
    CSB-YP623650HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人WASHC5重组蛋白
  • 货号：
    CSB-EP623650HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人WASHC5重组蛋白
  • 货号：
    CSB-EP623650HU-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：
  • 中文名称：
    人WASHC5重组蛋白
  • 货号：
    CSB-BP623650HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人WASHC5重组蛋白
  • 货号：
    CSB-MP623650HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    WASHC5
  • Uniprot No.：
    Q12768
  • 别名：
    KIAA0196; SPG8; STRUM_HUMAN; WASH complex subunit strumpellin
  • 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：
    Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. May be involved in axonal outgrowth. Involved in cellular localization of ADRB2. Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7.
  • 基因功能参考文献：
    1. A novel missense mutation was identified in the KIAA0196 gene in a Japanese patient with SPG8. PMID: 26967522
    2. A mutation in the WASH component KIAA0196 (strumpellin) is associated with hypercholesterolaemia in humans. PMID: 26965651
    3. Study found a novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia. PMID: 24824269
    4. To identify the underlying genetic cause of Ritscher-Schinzel syndrome, affected individuals from a First Nations community in Manitoba underwent mutational analysis. All eight patients were homozygous for a novel splice site mutation in KIAA0196. PMID: 24065355
    5. we identified a novel KIAA0196 missense variant in the proband and her daughter expanding the clinical spectrum of hereditary spastic paraplegia 8. PMID: 23881105
    6. We have identified a fourth pathogenic KIAA0196 mutation in a Dutch hereditary spastic paraplegia family, the seventh family worldwide, with a less severe clinical course than described before. PMID: 23455931
    7. Strumpellin disease mutations do not affect its incorporation into the WASH complex or its subcellular localisation. PMID: 23085491
    8. strumpellin is a ubiquitously expressed protein present in cytosolic and endoplasmic reticulum cell fractions. In the human central nervous system strumpellin shows a presynaptic localization. PMID: 20833645
    9. WAFL may play an important role in endocytosis and subsequent membrane trafficking by interacting with AP2 through KIAA0196 and KIAA1033 PMID: 20376207
    10. The expression of KIAA0196 at chromosomal region 8q24 is significantly higher in prostate carcinomas with gene amplification than in those without it. PMID: 14603436
    11. Identified three mutations in the KIAA0196 gene in six families that map to the SPG8 locus. The identification and characterization of the KIAA0196 gene will enable further insight into the pathogenesis of HSP. PMID: 17160902

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  • 相关疾病：
    Spastic paraplegia 8, autosomal dominant (SPG8); Ritscher-Schinzel syndrome 1 (RTSC1)
  • 亚细胞定位：
    Cytoplasm, cytosol. Endoplasmic reticulum. Early endosome.
  • 蛋白家族：
    Strumpellin family
  • 组织特异性：
    Expressed ubiquitously.
  • 数据库链接：

    HGNC: 28984

    OMIM: 220210

    KEGG: hsa:9897

    STRING: 9606.ENSP00000318016

    UniGene: Hs.270043

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