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  4. Recombinant Human Muscleblind-like protein 1 (MBNL1)

Recombinant Human Muscleblind-like protein 1 (MBNL1)

  • 中文名称：
    人MBNL1重组蛋白
  • 货号：
    CSB-EP889088HU
  • 规格：
    ￥1344
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    MBNL1
  • Uniprot No.：
  • 别名：
    EXP; EXP35; EXP40; EXP42; KIAA0428; MBNL; MBNL protein; MBNL1; MBNL1_HUMAN; Muscleblind 41kD isoform; Muscleblind like; Muscleblind like protein 1; Muscleblind like splicing regulator 1; Muscleblind-like protein 1; Triplet expansion RNA binding protein; Triplet-expansion RNA-binding protein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Isoform 5
  • 来源：
    E.coli
  • 分子量：
    53.9 kDa
  • 表达区域：
    1-382aa
  • 氨基酸序列
    MAVSVTPIRDTKWLTLEVCREFQRGTCSRPDTECKFAHPSKSCQVENGRVIACFDSLKGRCSRENCKYLHPPPHLKTQLEINGRNNLIQQKNMAMLAQQMQLANAMMPGAPLQPVPMFSVAPSLATNASAAAFNPYLGPVSPSLVPAEILPTAPMLVTGNPGVPVPAAAAAAAQKLMRTDRLEVCREYQRGNCNRGENDCRFAHPADSTMIDTNDNTVTVCMDYIKGRCSREKCKYFHPPAHLQAKIKAAQYQVNQAAAAQAAATAAAMGIPQAVLPPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPGSILCMTPATSVVPMVHGATPATVSAATTSATSVPFAATATANQIPIISAEHLTSHKYVTQM
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 6xHis-SUMO-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Tris-based buffer,50% glycerol
  • 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：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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.
  • 产品描述：
    Recombinant Human Muscleblind-like protein 1(MBNL1) is a full length of isoform 5 protein expressed with an N-terminal 6xHis-SUMO-tagged in the E.coli. Its expression region corresponds to 1-382aa of human MBNL1 protein. Its purity was determined by SDS-PAGE and reached up to 90% and presented a molecular mass band of 57.0kDa on the gel. This recombinant MBNL1 protein may be used to synthesize antibodies against MBNL1 or on the studies of MBNL1-associated signal transduction.
    MBNL1 is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. This protein acts either as activator or repressor of splicing on specific pre-mRNA targets. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Diseases associated with MBNL1 protein include Myotonic Dystrophy and Myotonic Disease.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues.
  • 基因功能参考文献：
    1. RBFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences. PMID: 29789616
    2. Functional depletion of the alternative splicing factors Muscleblind-like (MBNL 1 and 2) is at the basis of the neuromuscular disease myotonic dystrophy type 1 (DM1). Here, we screen for miRNAs that regulate MBNL1 and MBNL2 in HeLa cells. We thus identify miR-23b and miR-218, and confirm that they downregulate MBNL proteins in this cell line. PMID: 29946070
    3. For exogenous activation of MBNL transcription, MBNL1 transcription start site T2 seems to be the most suitable target, as the ensuing pre-mRNA is susceptible to both major loops, e1 and e5, and hence, theoretically, following induction each cell in the body could reach the optimal MBNL content. PMID: 28949831
    4. RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2 PMID: 28910618
    5. Our work suggests that DM1 patients are at risk for Fuchs' endothelial corneal dystrophy (FECD). DMPK mutations contribute to the genetic burden of FECD but are uncommon. We establish a connection between two repeat expansion disorders converging upon RNA-MBNL1 foci and FECD. PMID: 28886202
    6. Binding of the MBNL zinc fingers to cardiac troponin T pre-mRNA is specific and relatively simple, unlike the complex multiple dimer-trimer stoichiometries postulated in some previous studies. PMID: 28718627
    7. Heterozygous missense mutations and one in-frame deletion in MBNL1 were identified in 3 myotonic dystrophy patients. PMID: 27222292
    8. Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65 PMID: 26218986
    9. muscleblind-like 1 (MBNL1) is a robust suppressor of multiorgan breast cancer metastasis. It binds the 3' untranslated regions of DBNL and TACC1 -two genes that are implicated as metastasis suppressors. PMID: 26883358
    10. Sense DMPK RNA foci clearly co-localize with MBNL1 and MBNL2 proteins and accumulate in myotonic dystrophy 1 tissues during development. PMID: 26339785
    11. abnormal splicing of DMD exon 78 found in dystrophic muscles of DM1 patients is due to the functional loss of MBNL1 and leads to the re-expression of an embryonic dystrophin in place of the adult isoform. PMID: 26018658
    12. Reduced RBFOX1 activity in myotonic dystrophy type 1 tissues may amplify several of the splicing alterations caused by the deficiency in MBNL1. PMID: 25211016
    13. MBNL1 binds with C allelic pre-miR-1307 leading to low expression of miR-1307-3p in colorectal cancer. PMID: 25977444
    14. The result is consistent with the hypothesis that MBNL proteins are trapped by expanded CUG repeats and inactivated in myotonic dystrophy type 1 (DM1) and that CELF1 is activated in DM1. PMID: 25403273
    15. Results show that nuclear localization is a major determinant of MBNL1 function. It promotes the nuclear retention of repeat-containing transcripts, which results in repression of aberrant protein expression from the expanded repeats. PMID: 25274774
    16. Results highlight the importance of RNA binding by MBNL Zinc Finger domains 1 and 2 for splicing regulatory activity, even when the protein is artificially recruited to its regulatory location on target RNAs. PMID: 24373687
    17. both MBNL1 and MBNL2 are involved in the regulation of Tau exon 2 splicing and the mis-splicing of Tau in DM1 is due to the combined inactivation of both. PMID: 24440524
    18. MBNL1 and RBFOX2 cooperate to establish a splicing programme involved in pluripotent stem cell differentiation. PMID: 24048253
    19. MBNL1 is highly mobile and changes localization in response to altered transcription and splicing activity, providing an insight into the sensitivity of the lens to changes in MBNL1 distribution. PMID: 24354850
    20. in both dystrophic and sarcopenic muscles MBNL1 undergoes intranuclear relocation, accumulating in its usual functional sites but also ectopically moving to domains which are usually devoid of this protein in healthy adults PMID: 23807294
    21. This report demonistrated that the association of several genetic variants of the MBNL1 gene with DM1 or with the severity of the disease. PMID: 23161457
    22. consistent with a central and negative regulatory role for MBNL proteins in pluripotency, their knockdown significantly enhances the expression of key pluripotency genes and the formation of induced pluripotent stem cells during somatic cell reprogramming PMID: 23739326
    23. MBNL1 loss shows a graded effect on the number and severity of the ensuing RNA splice defects. PMID: 23166594
    24. study suggests that regulation of CUGBP1 and MBNL1 is essential for accurate control of destabilization of a broad spectrum of mRNAs as well as of alternative splicing events PMID: 22355723
    25. It was demonstrated that functionally distinct classes of MBNL1-mediated splicing events exist as defined by requirements for zinc finger-RNA interactions. PMID: 22890842
    26. The present results show that the MBNL1 protein is expressed and more or less sequestered into the CCUGexp nuclear foci also in analyzed non-muscle tissues of DM2 patients. PMID: 22520280
    27. congenital myotonic dystrophy muscle has nuclear foci that contain muscleblind-like 1 (MBNL1) protein. PMID: 22113158
    28. The removal of one pair of zinc fingers greatly impairs the binding affinity of MBNL1, which indicates that the two pairs of zinc fingers might possibly interact with RNA targets cooperatively. PMID: 22106026
    29. Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. PMID: 22306654
    30. Expanded CUG repeats Dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex PMID: 21900255
    31. Deletion of the MBNL1 response element eliminated MBNL1 splicing regulation and led to complete inclusion of exon 5, which is consistent with the suppressive effect of MBNL1 on splicing. PMID: 21832083
    32. Although MBNL1 contains four Zn fingers, it appears that only two Zn fingers binding GC motifs are necessary for high affinity RNA binding. PMID: 21548961
    33. MBNL1 regulates pre-miR-1 biogenesis. PMID: 21685920
    34. results indicate the occurrence of a mis-splicing event in myotonic dystrophy type 1 that is induced neither by a loss of muscleblind-like 1 (MBNL1) function nor by a gain of CUGBP1 PMID: 21439371
    35. the abnormally high inclusion of the exon 5 and 7 regions in DM1 is expected to enhance the potential of MBNL1 of being sequestered with nuclear CUG expansions, which provides new insight into DM1 pathophysiology. PMID: 21454535
    36. Findings demonstrate a role for Mbnl1 in controlling insulin receptor exon 11 inclusion via binding to a downstream intronic enhancer element. PMID: 20519504
    37. MBNL proteins promote opposite splicing patterns for cardiac troponin T and insulin receptor alternative exons PMID: 15257297
    38. small interfering RNA-mediated down-regulation of MBNL1 in normal myoblasts results in abnormal insulin receptor splicing PMID: 15546872
    39. The GFP-MBNL1 in CUG and CAG foci have similar half-times of recovery and fractions of immobile molecules, suggesting GFP-MBNL1 is bound by both CUG and CAG repeats and formation of RNA foci and disruption of MBNL1-regulated splicing are separable events. PMID: 15961406
    40. The fact that a human protein works in a Drosophila cellular context illustrates the use of an in vivo test to prove functional conservation. PMID: 16394256
    41. findings show that MBNL1 nuclear sequestration in protein foci is a molecular pathology marker of DM1 and DM2 patients where ribonuclear inclusions of transcripts with expanded CUG/CCUG repeats are also present PMID: 16920640
    42. Elevated levels of MBNL1 show RNA-independent interaction with hnRNP H and dampen the inhibitory activity of increased hnRNP H levels on IR splicing in normal myoblasts. PMID: 16946708
    43. MBNL1 (muscleblind-like protein 1) is an alternative splicing factor that becomes highly concentrated with mutant RNA foci. PMID: 17846170
    44. MBNL may bind all of its RNA substrates, both normal and pathogenic, as structured stem-loops containing pyrimidine mismatches. PMID: 17942744
    45. Examination of dynamics of MBNL1 in response to stress, and suggestion of a role for MBNL1 in mRNA metabolism in the cytoplasm. PMID: 18335541
    46. Both the ZnF3 and the ZnF4 zinc-finger domains target GC steps, with site-specific recognition mediated by a network of hydrogen bonds formed primarily with main chain groups of the protein. PMID: 19043415
    47. MBNL1 and MBNL2 always co-distributed. Functional differences between MBNL1 and MBNL2 have not yet been found PMID: 19095965
    48. Our data seem indicate that the presence of ribonuclear inclusions and MBNL1 nuclear foci are involved in alteration of alternative splicing but do not impair DM2 myogenic differentiation. PMID: 19345584
    49. Data show that ligand 1 selectively destabilizes the MBNL1N-poly(CUG) complex. PMID: 19805260

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  • 相关疾病：
    Dystrophia myotonica 1 (DM1); Corneal dystrophy, Fuchs endothelial, 3 (FECD3)
  • 亚细胞定位：
    Nucleus. Cytoplasm. Cytoplasmic granule. Note=Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress (PubMed:18335541). Localized in the cytoplasm of multinucleated myotubes (PubMed:18335541). Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy (PubMed:10970838, PubMed:11590133, PubMed:11929853).
  • 蛋白家族：
    Muscleblind family
  • 组织特异性：
    Highly expressed in cardiac, skeletal muscle and during myoblast differentiation. Weakly expressed in other tissues (at protein level). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
  • 数据库链接：

    HGNC: 6923

    OMIM: 160900

    KEGG: hsa:4154

    STRING: 9606.ENSP00000282486

    UniGene: Hs.201858