Recombinant Human Muscleblind-like 1 protein (ab114825)

製品の概要

製品の詳細

  • 由来
    Recombinant
  • 由来
    Wheat germ
  • アミノ酸配列
    • アクセッション番号
    • 生物種
      Human
    • 配列
      MGRCSRENCKYLHPPPHLKTQLEINGRNNLIQQKNMAMLAQQMQLANAMM PGAPLQPVPMFSVAPSLATNASAAAFNPYLGPVSPSLVPAEILPTAPMLV TGNPGVPVPAAAAAAAQKLMRTDRLEVCREYQRGNCNRGENDCRFAHPAD STMIDTNDNTVTVCMDYIKGRCSREKCKYFHPPAHLQAKIKAAQYQVNQA AAAQAAATAAAMTQSAVKSLKRPLEATFDLGIPQAVLPPLPKRPALEKTN GATAVFNTGIFQYQQALANMQLQQHTAFLPPGSILCMTPATSVVPMVHGA TPATVSAATTSATSVPFAATATANQIPIISAEHLTSHKYVTQM
    • 分子量
      64 kDa including tags
    • 領域
      1 to 343
    • タグ
      GST tag N-Terminus

特性

Our Abpromise guarantee covers the use of ab114825 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • アプリケーション

    ELISA

    SDS-PAGE

    Western blot

  • 製品の状態
    Liquid
  • 備考
    Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

関連情報

  • 別名
    • 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
    see all
  • 機能
    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.
  • 組織特異性
    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.
  • 関連疾患
    Plays a role in the pathogenesis of dystrophia myotonica type 1 (DM1) [MIM:160900]. A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. Note=In muscle cells from DM1 patients, MBNL1 is sequestered by DMPK RNAs containing CUG triplet repeat expansions. MBNL1 binding is proportional to repeat length consistent with the direct correlation between the length of repeat expansion and disease severity.
  • 配列類似性
    Belongs to the muscleblind family.
    Contains 4 C3H1-type zinc fingers.
  • 細胞内局在
    Nucleus. Cytoplasm. Cytoplasmic granule. Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress. Localized in the cytoplasm of multinucleated myotubes. Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy.
  • Information by UniProt

画像

  • 12.5% SDS-PAGE Stained with Coomassie Blue

参考文献

ab114825 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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