Specification
| Organism | Homo sapiens (Human) |
| Expression Host | E.coli |
| Tag Info | N-terminal 6xHis-SUMO-tagged |
| Purity | Greater than 85% by SDS-PAGE |
| Uniprot ID | Q9NR56 |
| Gene Names | MBNL1 |
| Alternative Names | Triplet-expansion RNA-binding protein |
| Expression Region | Full Length of Isoform 5(1-382aa ) |
| Molecular Weight | 57 kDa |
| Protein Sequence | MAVSVTPIRDTKWLTLEVCREFQRGTCSRPDTECKFAHPSKSCQVENGRVIACFDSLKGRCSRENCKYLHPPPHLKTQLEINGRNNLIQQKNMAMLAQQMQLANAMMPGAPLQPVPMFSVAPSLATNASAAAFNPYLGPVSPSLVPAEILPTAPMLVTGNPGVPVPAAAAAAAQKLMRTDRLEVCREYQRGNCNRGENDCRFAHPADSTMIDTNDNTVTVCMDYIKGRCSREKCKYFHPPAHLQAKIKAAQYQVNQAAAAQAAATAAAMGIPQAVLPPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPGSILCMTPATSVVPMVHGATPATVSAATTSATSVPFAATATANQIPIISAEHLTSHKYVTQM |
| Form | Liquid or Lyophilization |
| Buffer | The default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol if the delivery form is liquid. The lyophilization buffer is Tris/PBS-based buffer, 6% Trehalose, pH 8.0 if the delivery form is lyophilized powder. Please contact us if you have any special requirment. |
| Reconstitution | Please reconstitute protein in deionized sterile water and we recommend that briefly centrifuge thevial prior to opening the vial .We recommend aliquot for long-term storage at -20℃/-80℃. |
Background
| 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. |
| Involvement in Disease | Dystrophia myotonica 1 (DM1); Corneal dystrophy, Fuchs endothelial, 3 (FECD3) |
| Subcellular Location | Nucleus, Cytoplasm, Cytoplasmic granule |
| Protein Families | Muscleblind family |
| Tissue Specificity | MBNL1 |
QC Data
| Note | Please contact us for QC Data |
| Product Image (Reference Only) |  |