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  4. Recombinant Human Kelch repeat and BTB domain-containing protein 5 (KBTBD5)

Recombinant Human Kelch repeat and BTB domain-containing protein 5 (KBTBD5)

  • 中文名称：
    人KLHL40重组蛋白
  • 货号：
    CSB-YP651909HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人KLHL40重组蛋白
  • 货号：
    CSB-EP651909HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人KLHL40重组蛋白
  • 货号：
    CSB-EP651909HU-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KLHL40重组蛋白
  • 货号：
    CSB-BP651909HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人KLHL40重组蛋白
  • 货号：
    CSB-MP651909HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    KLHL40
  • Uniprot No.：
  • 别名：
    KBTB5_HUMAN; kbtbd5; Kelch repeat and BTB (POZ) domain containing 5; Kelch repeat and BTB domain-containing protein 5; Sarcosynapsin; SRYP
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-621
  • 氨基酸序列
    MALGLEQAEE QRLYQQTLLQ DGLKDMLDHG KFLDCVVRAG EREFPCHRLV LAACSPYFRA RFLAEPERAG ELHLEEVSPD VVAQVLHYLY TSEIALDEAS VQDLFAAAHR FQIPSIFTIC VSFLQKRLCL SNCLAVFRLG LLLDCARLAV AARDFICAHF TLVARDADFL GLSADELIAI ISSDGLNVEK EEAVFEAVMR WAGSGDAEAQ AERQRALPTV FESVRCRLLP RAFLESRVER HPLVRAQPEL LRKVQMVKDA HEGRITTLRK KKKGKDGAGA KEADKGTSKA KAEEDEEAER ILPGILNDTL RFGMFLQDLI FMISEEGAVA YDPAANECYC ASLSNQVPKN HVSLVTKENQ VFVAGGLFYN EDNKEDPMSA YFLQFDHLDS EWLGMPPLPS PRCLFGLGEA LNSIYVVGGR EIKDGERCLD SVMCYDRLSF KWGESDPLPY VVYGHTVLSH MDLVYVIGGK GSDRKCLNKM CVYDPKKFEW KELAPMQTAR SLFGATVHDG RIIVAAGVTD TGLTSSAEVY SITDNKWAPF EAFPQERSSL SLVSLVGTLY AIGGFATLET ESGELVPTEL NDIWRYNEEE KKWEGVLREI AYAAGATFLP VRLNVLCLTK M
  • 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：
    Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development. The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex. Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LMOD3 is however unclear.
  • 基因功能参考文献：
    1. Two compound heterozygous mutations; c.602G > A(p.W201*) and c.1516A > C(p.T506P), in the Kelch-like 40 (KLHL40) gene were discovered in a family with 3 fetuses affected by fetal akinesia deformation sequence. PMID: 27762439
    2. NEB and LMOD3 were reduced in skeletal muscle of KLHL40-deficient patients, providing a potential basis for the development of nemaline myopathy. PMID: 24960163
    3. KLHL40 mutations as a frequent cause of severe autosomal-recessive nemaline myopathy. It plays a key role in muscle development and function. PMID: 23746549
  • 相关疾病：
    Nemaline myopathy 8 (NEM8)
  • 亚细胞定位：
    Cytoplasm. Cytoplasm, myofibril, sarcomere, A band. Cytoplasm, myofibril, sarcomere, I band.
  • 蛋白家族：
    KLHL40 family
  • 组织特异性：
    Highly expressed in fetal (19, 23 and 31 weeks of gestation) and adult skeletal muscle; expression levels tend to be higher in fetal compared to postnatal muscles (at protein level). Also expressed in fetal and adult heart.
  • 数据库链接：

    HGNC: 30372

    OMIM: 615340

    KEGG: hsa:131377

    STRING: 9606.ENSP00000287777

    UniGene: Hs.350288