Muscleblind-like protein 1 (MBNL1), human, recombinant

Organism: Homo sapiens (Human). Source: E.coli. Expression Region: 1-382aa. Protein Length: Full Length of Isoform 5. Tag Info: N-terminal 6xHis-SUMO-tagged. Target Protein Sequence: MAVSVTPIRD TKWLTLEVCR EFQRGTCSRP DTECKFAHPS KSCQVENGRV IACFDSLKGR CSRENCKYLH PPPHLKTQLE INGRNNLIQQ KNMAMLAQQM QLANAMMPGA PLQPVPMFSV APSLATNASA AAFNPYLGPV SPSLVPAEIL PTAPMLVTGN PGVPVPAAAA AAAQKLMRTD RLEVCREYQR GNCNRGENDC RFAHPADSTM IDTNDNTVTV CMDYIKGRCS REKCKYFHPP AHLQAKIKAA QYQVNQAAAA QAAATAAAMG IPQAVLPPLP KRPALEKTNG ATAVFNTGIF QYQQALANMQ LQQHTAFLPP GSILCMTPAT SVVPMVHGAT PATVSAATTS ATSVPFAATA TANQIPIISA EHLTSHKYVT QM. Purity: Greater than 90% as determined by SDS-PAGE. Endotoxin: Not test. Biological Activity: n/a. Form: Liquid or Lyophilized powder. Buffer: If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0. Reconstitution: 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 °C/-80 °C. Our default final concentration of glycerol is 50%. Customers could use it as reference. Storage: 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. Notes: Repeated freezing and thawing is not recommended. Store working aliquots at 4 °C for up to one week. Relevance: 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 st-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assbly. 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. Reference: Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.Mankodi A., Urbinati C.R., Yuan Q.P., Moxley R.T., Sansone V., Krym M., Henderson D., Schalling M., Swanson M.S., Thornton C.A.Hum. Mol. Genet. 10:2165-2170(2001). Function: 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.