Recombinant Human MBNL1 Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: MBNL1-6452H
• Product Overview: MBNL1 MS Standard C13 and N15-labeled recombinant protein (NP_997176) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Species: Human
• Source: HEK293
• Tag: DDK&Myc
• Description: This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. 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. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities.
• Molecular Mass: 41.6 kDa
• AA Sequence: MAVSVTPIRDTKWLTLEVCREFQRGTCSRPDTECKFAHPSKSCQVENGRVIACFDSLKGRCSRENCKYLHPPPHLKTQLEINGRNNLIQQKNMAMLAQQMQLANAMMPGAPLQPVPMFSVAPSLATNASAAAFNPYLGPVSPSLVPAEILPTAPMLVTGNPGVPVPAAAAAAAQKLMRTDRLEVCREYQRGNCNRGENDCRFAHPADSTMIDTNDNTVTVCMDYIKGRCSREKCKYFHPPAHLQAKIKAAQYQVNQAAAAQAAATAAAMTQSAVKSLKRPLEATFDLGIPQAVLPPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPVPMVHGATPATVSAATTSATSVPFAATATANQIPIISAEHLTSHKYVTQMTRTRPLEQKLISEEDLAANDILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: MBNL1 muscleblind-like splicing regulator 1 [ Homo sapiens (human) ]
• Official Symbol: MBNL1
• Synonyms: MBNL1; muscleblind-like splicing regulator 1; MBNL, muscleblind (Drosophila) like, muscleblind like (Drosophila); muscleblind-like protein 1; EXP; EXP35; EXP40; EXP42; KIAA0428; triplet-expansion RNA-binding protein; MBNL; DKFZp686P06174
• Gene ID: 4154
• mRNA Refseq: NM_207293
• Protein Refseq: NP_997176
• MIM: 606516
• UniProt ID: Q9NR56