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  4. Recombinant Human Ribosome maturation protein SBDS (SBDS)

Recombinant Human Ribosome maturation protein SBDS (SBDS)

  • 中文名稱：
    人SBDS重組蛋白
  • 貨號：
    CSB-YP897481HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人SBDS重組蛋白
  • 貨號：
    CSB-EP897481HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人SBDS重組蛋白
  • 貨號：
    CSB-EP897481HU-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SBDS重組蛋白
  • 貨號：
    CSB-BP897481HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人SBDS重組蛋白
  • 貨號：
    CSB-MP897481HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    SBDS
  • Uniprot No.：
  • 別名：
    4733401P19Rik; AI836084; CGI 97; CGI-97; FLJ10917; MGC105922; Protein 22A3; Ribosome maturation protein SBDS; sbds; SBDS_HUMAN; SDS; Shwachman Bodian Diamond syndrome protein; Shwachman Bodian Diamond syndrome protein homolog; Shwachman Bodian-Diamond syndrome; Shwachman-Bodian-Diamond syndrome protein; SWDS
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full Length of Mature Protein
  • 表達區域：
    2-250
  • 氨基酸序列
    SIFTPTNQI RLTNVAVVRM KRAGKRFEIA CYKNKVVGWR SGVEKDLDEV LQTHSVFVNV SKGQVAKKED LISAFGTDDQ TEICKQILTK GEVQVSDKER HTQLEQMFRD IATIVADKCV NPETKRPYTV ILIERAMKDI HYSVKTNKST KQQALEVIKQ LKEKMKIERA HMRLRFILPV NEGKKLKEKL KPLIKVIESE DYGQQLEIVC LIDPGCFREI DELIKKETKG KGSLEVLNLK DVEEGDEKFE
  • 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 the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation.
  • 基因功能參考文獻：
    1. Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients. PMID: 27519942
    2. SBDS mutation is associated with Shwachman Diamond-Syndrome. PMID: 28509441
    3. SBDS function is specifically required for efficient translation re-initiation into the protein isoforms C/EBPalpha-p30 and C/EBPbeta-LIP, which is controlled by a single cis-regulatory upstream open reading frame (uORF) in the 5' untranslated regions (5' UTRs) of both mRNAs. PMID: 26762974
    4. Association of Elongation Factor-like 1 (EFL1) GTPase to SBDS did not modify the affinity for GTP but dramatically decreased that for GDP by increasing the dissociation rate of the nucleotide. PMID: 25991726
    5. The clinical diagnosis was confirmed by detection of compound heterozygous mutations in SBDS using whole-exome sequencing: a recurrent intronic mutation causing aberrant splicing (c.258+2T>C) and a novel missense variant in a highly conserved codon (c.41A>G, p.Asn14Ser), considered to be damaging for the protein structure by in silico prediction programs PMID: 26866830
    6. Upon EFL1 binding, SBDS is repositioned around helix 69, thus facilitating a conformational switch in EFL1 that displaces eIF6 by competing for an overlapping binding site on the 60S ribosomal subunit. PMID: 26479198
    7. Association of EFL1 to SBDS did not modify the affinity for GTP but dramatically decreased that for GDP by increasing the dissociation rate of the nucleotide. PMID: 25991726
    8. Genetic variations in exon 2 of SBDS gene do not appear to be contributing to aplastic anemia in the north Indian population. PMID: 24636098
    9. The interaction between EFL1 and SBDS was analyzed by size exclusion chromatography, gel shift assay, and isothermal titration calorimetry. The results showed that EFL1 interacted directly with SBDS. PMID: 24406167
    10. SBDS protein acts as a nucleotide exchange factor that stabilizes binding to GTP for human GTPase. PMID: 23831625
    11. Lack of mutation in exon 2 of sbds protein in acute myeloid leukemia suggests this subset is unlikely to have underlying sds PMID: 23189942
    12. We conclude that knockdown of SBDS leads to growth inhibition and defects in ribosome maturation PMID: 22997148
    13. SBDS protein facilitates the release of eIF6, a factor that prevents ribosome joining. PMID: 23115272
    14. Erythropoiesis (in normal stem cells or in cells from Shwachman-Diamond syndrome patients) requires SBDS. Knockdown of SBDS leads to oxidative stress, to increased levels of ROS during erythroid differentiation, and disrupts ribosome biogenesis. PMID: 21963601
    15. the amount of mutated SBDS protein was decreased PMID: 21660439
    16. SBDS full-length protein was localized in both the nucleus and cytoplasm, whereas patient-related truncated SBDS protein isoforms localize predominantly to the nucleus. PMID: 21695142
    17. SBDS-deficiency results in deregulation of reactive oxygen species leading to increased cell death and decreased cell growth in cancer. PMID: 20979173
    18. Mutations of the Shwachman-Bodian-Diamond syndrome gene is not associated with refractory cytopenia. PMID: 19951977
    19. determined the solution structure and backbone dynamics of the SBDS protein and describe its RNA binding site using NMR spectroscopy PMID: 20053358
    20. analysis of SBDS expression and localization at the mitotic spindle in human myeloid progenitors PMID: 19759903
    21. Mutations in SBDS are associated with Shwachman-Diamond syndrome PMID: 12496757
    22. gene conversion mutations in SBDS are common to different ethnic groups, but they are not confined to a limited region of the gene PMID: 14749921
    23. most, but not all, patients classified based on rigorous clinical criteria as having SDS had compound heterozygous mutations of SBDS; presence (or absence) of SBDS mutations may define subgroups of patients with SDS PMID: 15284109
    24. patients with genetically proven SDS a genotype-phenotype relationship in SDS does not exist in clinical and hematologic terms PMID: 15769891
    25. SBDS localization was cell-cycle dependent, with nucleolar localization during G1 and G2 and diffuse nuclear localization during S phase PMID: 15860664
    26. analysis of phenotypic heterogeneity in Shwachman-Diamond syndrome patients carrying identical SBDS mutations PMID: 15942154
    27. findings link Shwachman-Diamond syndrome to other bone marrow failure syndromes with defects in nucleolus-associated processes, including Diamond-Blackfan anemia, cartilage-hair hypoplasia, and dyskeratosis congenita PMID: 16529906
    28. This is the first report of compound heterozygous missense mutations occurring in patients with SDS. Two novel missense mutations (c.362A > C in exon 3, and c.523C > T in exon 4) of the SBDS gene were identified in the patient. PMID: 17046571
    29. A novel missense mutation (79TC) in exon 1 is reported in a girl with spondylometaphysial dysplasia, ecpanding the phenotype beyond Shwachman-Bodian-Diamond syndrome. PMID: 17400792
    30. Mutations in the SBDS gene is associated with acquired aplastic anemia PMID: 17478638
    31. SBDS is found in complexes containing the human Nip7 ortholog. PMID: 17643419
    32. summary of documented SBDS mutations associated with Shwachman-Diamond syndrome PMID: 17916435
    33. genetic analysis of SBDS and SH2D1A in Japanese children with AA PMID: 18024409
    34. Mutations in the SBDS gene may therefore be the fifth identified molecular defect in CVID. PMID: 18190602
    35. SBDS has pro-survival properties. Its inhibition results in accelerated apoptosis through the Fas pathway. PMID: 18268284
    36. findings suggest that Shwachman-Diamond syndrome patients with mutations in the SBDS gene have a characteristic magnetic resonance imaging pattern of fat-replaced pancreas and that SBDS mutations are unlikely in patients without this pattern PMID: 18280855
    37. SBDS loss results in abnormal accumulation of Fas at the plasma membrane, where it sensitizes the cells to stimulation by Fas ligand PMID: 19009351
    38. We confirmed significant overexpression of osteoprotegerin and vascular endothelial growth factor-A by ELISA from supernatants of SBDS-depleted HeLa cells. PMID: 19014892
    39. in all cases the i(7)(q10) carries a double dose of the c.258+2T>C. As the c.258+2T>C mutation still allows the production of some amount of normal protein, this may contribute to the low incidence of MDS/AML in this subset of SDS patients PMID: 19148133
    40. SBDS is a multi-functional protein implicated in cellular stress responses. PMID: 19602484
    41. A novel mutation in a Fijian boy with Shwachman-Diamond syndrome. PMID: 19816210
    42. Mutations in SBDS are associated with Shwachman-Diamond syndrome. PMID: 12496757

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  • 相關疾病：
    Shwachman-Diamond syndrome (SDS)
  • 亞細胞定位：
    Cytoplasm. Nucleus, nucleolus. Nucleus, nucleoplasm. Cytoplasm, cytoskeleton, spindle.
  • 蛋白家族：
    SDO1/SBDS family
  • 組織特異性：
    Widely expressed.
  • 數據庫鏈接：

    HGNC: 19440

    OMIM: 260400

    KEGG: hsa:51119

    STRING: 9606.ENSP00000246868

    UniGene: Hs.110445



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