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  4. Recombinant Human Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMCHD1), partial

Recombinant Human Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMCHD1), partial

  • 中文名稱：
    人SMCHD1重組蛋白
  • 貨號：
    CSB-YP021819HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人SMCHD1重組蛋白
  • 貨號：
    CSB-EP021819HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人SMCHD1重組蛋白
  • 貨號：
    CSB-EP021819HU-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SMCHD1重組蛋白
  • 貨號：
    CSB-BP021819HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人SMCHD1重組蛋白
  • 貨號：
    CSB-MP021819HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    SMCHD1
  • Uniprot No.：
  • 別名：
    BAMS; FSHD2; KIAA0650; SMC hinge domain containing 1; SMC hinge domain containing protein 1; Smchd1; SMHD1_HUMAN; Structural maintenance of chromosomes flexible hinge domain containing 1; Structural maintenance of chromosomes flexible hinge domain-containing protein 1
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 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：
    Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture. Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments. Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin. Recruited to inactivated chromosome X by Xist RNA and acts by mediating the merge of chromatin compartments: promotes random chromatin interactions that span the boundaries of existing structures, leading to create a compartment-less architecture typical of inactivated chromosome X. Required to facilitate Xist RNA spreading. Also required for silencing of a subset of clustered autosomal loci in somatic cells, such as the DUX4 locus. Has ATPase activity; may participate in structural manipulation of chromatin in an ATP-dependent manner as part of its role in gene expression regulation. Also plays a role in DNA repair: localizes to sites of DNA double-strand breaks in response to DNA damage to promote the repair of DNA double-strand breaks. Acts by promoting non-homologous end joining (NHEJ) and inhibiting homologous recombination (HR) repair.
  • 基因功能參考文獻：
    1. Regions necessary for SMCHD1 protein nuclear localization, dimerization, and cleavage sites were identified. PMID: 30071896
    2. we report two Japanese FSHD2 siblings (brother and sister) with a new SMCHD1 nonsense mutation (a heterogeneous c. 1654C>T substitution, leading to a stop codon Arg552 *). PMID: 30327220
    3. We discuss the involvement of this rearrangement in Facioscapulohumeral dystrophy (FSHD), since all mutations in SMCHD1 are not associated with D4Z4 hypomethylation and do not always segregate with the disease PMID: 28744936
    4. SMCHD1 acts as a repressor on a limited set of autosomal gene clusters, as an observed reduction in methylation associates with a loss of SMCHD1 binding and increased expression for some of the loci. PMID: 28587678
    5. We summarise here current understanding of the mechanism of action of SMCHD1, its role in these diseases, and what has been learnt from study of mouse models null for Smchd1 in the decade since the discovery of SMCHD1 PMID: 28222895
    6. Mutations in SMCHD1 thus contribute to distinct phenotypic spectra. PMID: 28067909
    7. SMCHD1 as a key player in nasal development. PMID: 28067911
    8. SMCHD1 mutations cause Bosma arhinia microphthalmia syndrome. PMID: 28138148
    9. Study identified novel SMCHD1 mutations in a Japanese cohort of facioscapulohumeral muscular dystrophy 2 patients, confirming the presence of this disease in a wider population than previously known PMID: 27061275
    10. This study demonstrated that the the linkage peak revealed a variant (rs574972) within an intron of the gene SMCHD1 is linkaged to major depression in Mexican Americans. PMID: 26485182
    11. The synergistic effect has been demonstrated of two SMCHD1 variants on D4Z4 hypomethylation site and disease penetrance in facioscapulohumeral muscular dystrophy-2 patients. PMID: 25782668
    12. In the case of FSHD1, a contraction of the D4Z4 repeat array is disease causing whereas FSHD2 is most often caused by mutations in the structural maintenance of chromosomes hinge domain 1 (SMCHD1) gene. PMID: 26356006
    13. Two facioscapulohumeral muscular dystrophy type 2 families with a 1.2-Mb deletion encompassing the SMCHD1 gene are described; they have only one copy of SMCHD1. PMID: 25820463
    14. An indirect interaction mediated by the LRIF1 and HP1 proteins loads SMCHD1 onto chromatin marked by trimethylation of histone H3 lysine 9 (H3K9me3). PMID: 26391951
    15. findings confirm the role of SMCHD1 mutations in FSHD2 and as a modifier of disease severity. PMID: 25370034
    16. This approach was successfully employed in the context of the in silico prediction of potential remotely acting regulatory elements for the SMCHD1 gene. Subsequent sequencing of these predicted regions identified three sequence variants in FSHD patients PMID: 26446085
    17. SmcHD1 is an important regulator of imprinted and clustered genes PMID: 24818964
    18. SMCHD1 recruitment to DNA damage foci is regulated by 53BP1. PMID: 25294876
    19. study reports a novel mutation p.Lys275del in SMCHD1 in a family with facioscapulohumeral muscular dystrophy 2; conclude that the SMCHD1 mutation is the likely cause of the disease in this family PMID: 24128691
    20. Each of these individuals also carries a mutation in the SMCHD1 gene. PMID: 24075187
    21. Thus, the molecular network involving HBiX1 (previously termed C1orf103) and SMCHD1 links the H3K9me3 and XIST-H3K27me3 domains to organize the compact inactive X chromosome structure. PMID: 23542155
    22. our observations collectively highlight a hitherto uncharacterized role for SMCHD1 as a candidate tumor suppressor gene in hematopoietic cancers. PMID: 23269277
    23. The study identified SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of facioscapulohumeral muscular dystrophy type 2 and possibly other human diseases subject to epigenetic regulation. PMID: 23143600

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  • 相關疾病：
    Facioscapulohumeral muscular dystrophy 2 (FSHD2); Bosma arhinia microphthalmia syndrome (BAMS)
  • 亞細胞定位：
    Chromosome.
  • 數據庫鏈接：

    HGNC: 29090

    OMIM: 158901

    KEGG: hsa:23347

    STRING: 9606.ENSP00000326603

    UniGene: Hs.8118



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