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  4. Recombinant Human CWF19-like protein 1 (CWF19L1)

Recombinant Human CWF19-like protein 1 (CWF19L1)

  • 货号：
    CSB-YP727965HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP727965HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP727965HU-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-BP727965HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP727965HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CWF19L1
  • Uniprot No.：
  • 别名：
    CWF19L1CWF19-like protein 1; C19L1
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-538
  • 氨基酸序列
    MAQKPLRLLA CGDVEGKFDI LFNRVQAIQK KSGNFDLLLC VGNFFGSTQD AEWEEYKTGI KKAPIQTYVL GANNQETVKY FQDADGCELA ENITYLGRKG IFTGSSGLQI VYLSGTESLN EPVPGYSFSP KDVSSLRMML CTTSQFKGVD ILLTSPWPKC VGNFGNSSGE VDTKKCGSAL VSSLATGLKP RYHFAALEKT YYERLPYRNH IILQENAQHA TRFIALANVG NPEKKKYLYA FSIVPMKLMD AAELVKQPPD VTENPYRKSG QEASIGKQIL APVEESACQF FFDLNEKQGR KRSSTGRDSK SSPHPKQPRK PPQPPGPCWF CLASPEVEKH LVVNIGTHCY LALAKGGLSD DHVLILPIGH YQSVVELSAE VVEEVEKYKA TLRRFFKSRG KWCVVFERNY KSHHLQLQVI PVPISCSTTD DIKDAFITQA QEQQIELLEI PEHSDIKQIA QPGAAYFYVE LDTGEKLFHR IKKNFPLQFG REVLASEAIL NVPDKSDWRQ CQISKEDEET LARRFRKDFE PYDFTLDD
  • 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

  • 基因功能参考文献：
    1. Our report corroborates that loss-of-function mutations in CWF19Ll lead to early onset cerebellar ataxia and (progressive) cerebellar atrophy. PMID: 27016154
    2. Two pathogenic variants in CWF19L1 were identified in a patient with autosomal recessive cerebellar ataxia. c.37G>C variant was inherited from the father and the c.946A>T variant from the mother. PMID: 26197978
    3. Results of protein-protein interaction between human Dbr1 and factors found in the Intron Large complex identify Xab2 and a novel protein CWF19L1 as specific interactors of DBR1. PMID: 25671812
    4. CWF19L1 mutations may be a novel cause of recessive ataxia with developmental delay PMID: 25361784
    5. Our findings suggest ERLIN1-CHUK-CWF19L1 variants are associated with early stage of fatty liver accumulation to hepatic inflammation. PMID: 23477746

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  • 相关疾病：
    Spinocerebellar ataxia, autosomal recessive, 17 (SCAR17)
  • 蛋白家族：
    CWF19 family
  • 组织特异性：
    Expressed in many brain regions, including cerebellum, thalamus and occipital, parietal and temporal lobes (at protein level). Also expressed in the spinal cord (at protein level).
  • 数据库链接：

    HGNC: 25613

    OMIM: 616120

    KEGG: hsa:55280

    STRING: 9606.ENSP00000326411

    UniGene: Hs.215502