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  4. Recombinant Human Calsequestrin-1 (CASQ1)

Recombinant Human Calsequestrin-1 (CASQ1)

  • 货号：
    CSB-YP004556HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP004556HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP004556HU-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-BP004556HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP004556HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CASQ1
  • Uniprot No.：
  • 别名：
    Calmitin; Calmitine; Calsequestrin 1 (fast twitch; skeletal muscle); Calsequestrin; Calsequestrin; cell; Calsequestrin; skeletal muscle isoform; Calsequestrin-1; CASQ; Casq1; CASQ1_HUMAN; PDIB1; skeletal muscle isoform
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    35-396
  • 氨基酸序列
    QEGLDF PEYDGVDRVI NVNAKNYKNV FKKYEVLALL YHEPPEDDKA SQRQFEMEEL ILELAAQVLE DKGVGFGLVD SEKDAAVAKK LGLTEVDSMY VFKGDEVIEY DGEFSADTIV EFLLDVLEDP VELIEGEREL QAFENIEDEI KLIGYFKSKD SEHYKAFEDA AEEFHPYIPF FATFDSKVAK KLTLKLNEID FYEAFMEEPV TIPDKPNSEE EIVNFVEEHR RSTLRKLKPE SMYETWEDDM DGIHIVAFAE EADPDGFEFL ETLKAVAQDN TENPDLSIIW IDPDDFPLLV PYWEKTFDID LSAPQIGVVN VTDADSVWME MDDEEDLPSA EELEDWLEDV LEGEINTEDD DDDDDD
  • 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：
    Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca(2+) entry (SOCE) activity.
  • 基因功能参考文献：
    1. These results widen the spectrum of skeletal muscle diseases associated with CASQ1 and indicate that these mutations affect properties critical for correct Ca(2+) handling in skeletal muscle fibers. PMID: 28895244
    2. the p.D244G variant in CASQ1 is associated with a skeletal muscle disease and alters sarcoplasmic calcium release PMID: 27196359
    3. Calsequestrin-1 monomers suppress Store-Operated Ca2+ Entry by interacting with STIM1 and attenuating STIM1 aggregation via its C-terminal amino acid 362-396. PMID: 27185316
    4. the protein aggregate myopathy with benign evolution and muscle inclusions composed of excess CASQ1 due to the D244G heterozygous missense mutation in the CASQ1 gene PMID: 26136523
    5. Equilibrium dialysis and turbidity measurements showed that D244G and, to a lesser extent, M87T partially lose Ca(2+) binding exhibited by wild type calsequestrin 1 at high Ca(2+) concentrations. PMID: 26416891
    6. Missense mutation in CASQ1 gene causes the formation of abnormal sarcoplasmic reticulum (SR) vacuoles containing aggregates of CASQ1 results in altered Ca2+ release, and vacuolar myopathy patients phenotype. PMID: 25116801
    7. There is a significant association between SNP A175G and heat stroke. PMID: 24887214
    8. The sarcoplasmic reticulum calcium content in human type II fibres is primarily determined by the CSQ1 abundance, and in type I fibres, by the combined amounts of both CSQ1 and CSQ2. PMID: 24127619
    9. a direct interaction of dysferlin with Trim72/MG53, AHNAK, cytoplasmic dynein, myomesin-2 and calsequestrin-1, but not with caveolin-3 or dystrophin, is reported. PMID: 23792176
    10. CASQ1 is not a major malignant hyperthermia susceptibility locus in the North American population PMID: 23460944
    11. Downregulation of CSQ-1 in diabetic platelets and impairment of CSQ-1 in normal cells leads to disturbed Ca(2+) release, demonstrating a potential role for CSQ-1 in the regulation of the platelet Ca(2+) release process PMID: 22060633
    12. a mechanism for the observed in vitro and in vivo dynamic high-capacity and low-affinity Ca(2+)-binding activity of calsequestrin PMID: 22337878
    13. Single nucleotide polymorphisms within CASQ1 were genotyped in Amish subjects with type 2 diabetes, glucose intolerance and normals. PMID: 15561962
    14. Noncoding single nucleotide polymorphisms in CASQ1 alter diabetes susceptibility, either by a direct effect on CASQ1 gene expression or perhaps by regulating a nearby gene. PMID: 15561963
    15. CASQ1 polymorphism is not associated with type 2 diabetes PMID: 17681849

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  • 相关疾病：
    Myopathy, vacuolar, with CASQ1 aggregates (VMCQA); Myopathy, tubular aggregate, 1 (TAM1)
  • 亚细胞定位：
    Endoplasmic reticulum. Sarcoplasmic reticulum. Sarcoplasmic reticulum lumen. Sarcoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side. Mitochondrion matrix.
  • 蛋白家族：
    Calsequestrin family
  • 组织特异性：
    Expressed in myoblasts (at protein level).
  • 数据库链接：

    HGNC: 1512

    OMIM: 114250

    KEGG: hsa:844

    STRING: 9606.ENSP00000357057

    UniGene: Hs.632476