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  4. Recombinant Human Nucleotide exchange factor SIL1 (SIL1)

Recombinant Human Nucleotide exchange factor SIL1 (SIL1)

  • 中文名稱：
    人SIL1重組蛋白
  • 貨號：
    CSB-YP875645HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人SIL1重組蛋白
  • 貨號：
    CSB-EP875645HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人SIL1重組蛋白
  • 貨號：
    CSB-EP875645HU-B
  • 規格：
  • 來源：
    E.coli
  • 共軛：
    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：
  • 中文名稱：
    人SIL1重組蛋白
  • 貨號：
    CSB-BP875645HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人SIL1重組蛋白
  • 貨號：
    CSB-MP875645HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    BAP; BiP associated protein; BiP-associated protein; Endoplasmic reticulum chaperone SIL 1; Endoplasmic reticulum chaperone SIL1; MSS; Nucleotide exchange factor SIL 1; Nucleotide exchange factor SIL1; SIL 1; sil1; SIL1 homolog; SIL1 homolog endoplasmic reticulum chaperone (S. cerevisiae); SIL1 homolog endoplasmic reticulum chaperone; SIL1_HUMAN; UGL 5; ULG5
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full Length of Mature Protein
  • 表達區域：
    32-461
  • 氨基酸序列
    HQNLKEFAL TNPEKSSTKE TERKETKAEE ELDAEVLEVF HPTHEWQALQ PGQAVPAGSH VRLNLQTGER EAKLQYEDKF RNNLKGKRLD INTNTYTSQD LKSALAKFKE GAEMESSKED KARQAEVKRL FRPIEELKKD FDELNVVIET DMQIMVRLIN KFNSSSSSLE EKIAALFDLE YYVHQMDNAQ DLLSFGGLQV VINGLNSTEP LVKEYAAFVL GAAFSSNPKV QVEAIEGGAL QKLLVILATE QPLTAKKKVL FALCSLLRHF PYAQRQFLKL GGLQVLRTLV QEKGTEVLAV RVVTLLYDLV TEKMFAEEEA ELTQEMSPEK LQQYRQVHLL PGLWEQGWCE ITAHLLALPE HDAREKVLQT LGVLLTTCRD RYRQDPQLGR TLASLQAEYQ VLASLELQDG EDEGYFQELL GSVNSLLKEL R
  • 蛋白標簽：
    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.
  • 產品提供形式：
    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.
  • 復溶：
    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.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    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.
  • 貨期：
    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.
  • 注意事項：
    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.

產品評價

靶點詳情

  • 功能：
    Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5.
  • 基因功能參考文獻：
    1. SIL1-depleted HEK293 cells are an appropriate model to identify proteins modulated by SIL1 expression level. PMID: 26468156
    2. In a child with Marinesco-Sjogren syndrome it was found that a mutation in SIL1 affected the 5' UTR, translation initiation site and the endoplasmic reticulum-targeting signal sequence. PMID: 27544240
    3. this case study is the first report on Chinese Marinesco-Sjogren syndrome (MSS) patients, MSS complicated by Dandy-Walker syndrome (DWS), and a nonstop mutation in SIL1; our findings imply the pathogenetic association between DWS and MSS PMID: 27106665
    4. Two NEFs, Grp170 and Sil1, trigger toxin release from BiP to enable successful retrotranslocation and clarify the fate of the toxin after it disengages from BiP. PMID: 25877869
    5. This study demonistrated that SIL1 mutation in patient with ataxia telangiectasia PMID: 24631270
    6. The mutations prevent SIL1 from interacting with and regulating HSPA5, leading to abnormal neuronal morphology and migration. PMID: 24473200
    7. The study confirms the previous findings of mutations in SIL1 being the major cause of Marinesco-Sjogren syndrome. PMID: 24176978
    8. The clinical features and two novel SIL1 mutations of four Dutch patients with Marinesco-Sjogren syndrome are described PMID: 23062754
    9. the very C-terminal residues of SIL1 play a role in its structural integrity rather than its localization. PMID: 22219183
    10. The patients described here manifested the cardinal features of Marinesco-Sjogren syndrome, but did not exhibit any mutation in the exons and flanking introns of the SIL1 gene. PMID: 22115007
    11. Some reported cases of Marinesco-Sjogren syndrome without base alterations in the SIL1 gene are caused by deletions rather than locus heterogeneity. PMID: 20111056
    12. Interactions between Kar2p and its nucleotide exchange factors Sil1p and Lhs1p are mechanistically distinct PMID: 20430899
    13. BAP serves as a nucleotide exchange factor for BiP PMID: 12356756
    14. Nine distinct mutations that would disrupt the SIL1 protein in individuals with Marinesco-Sjogren syndrome were identified. PMID: 16282977
    15. Four Marinesco-Sjogren syndrome-associated loss-of-function mutations in SIL1 leading to disturbed SIL1-HSPA5 interaction and protein folding were identified. PMID: 16282978
    16. A novel mutation in BAP/SIL1 gene causes Marinesco-Sjogren syndrome in an extended pedigree. PMID: 17026626
    17. SIL1 mutation is associated with Marinesco-Sjogren syndrome PMID: 18285827
    18. We sequenced the entire SIL1-coding region in 3 unrelated Japanese patients with classical MSS and identified a novel homozygous frameshift insertion mutation, 936_937insG, in exon 9 in all 3 patients. PMID: 18395226
    19. data report two novel SIL1 missense mutations in two consanguineous Pakistani families affected with Marinesco-Sjogren syndrome PMID: 19471582

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  • 相關疾病：
    Marinesco-Sjoegren syndrome (MSS)
  • 亞細胞定位：
    Endoplasmic reticulum lumen.
  • 蛋白家族：
    SIL1 family
  • 組織特異性：
    Highly expressed in tissues which produce large amounts of secreted proteins such as kidney, liver and placenta. Also expressed in colon, heart, lung, ovary, pancreas, peripheral leukocyte, prostate, spleen and thymus. Expressed at low levels throughout t
  • 數據庫鏈接：

    HGNC: 24624

    OMIM: 248800

    KEGG: hsa:64374

    STRING: 9606.ENSP00000265195

    UniGene: Hs.483521



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