Tbio MBNL1 Muscleblind-like protein 1

Protein Summary

Description

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. 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. [provided by RefSeq, Sep 2015]

Uniprot Accession IDs

• Q9NR56
• E9PBW7
• O43311
• O43797
• Q86UV8
• Q86UV9
• Q96P92
• Q96RE3

Gene Name

• MBNL1

Ensembl ID

• ENST00000282486
• ENSP00000282486
• ENSG00000152601
• ENST00000324196
• ENSP00000319374
• ENST00000324210
• ENSP00000319429
• ENST00000355460
• ENSP00000347637
• ENST00000357472
• ENSP00000350064
• ENST00000463374
• ENSP00000418108
• ENST00000465907
• ENSP00000417630
• ENST00000485509
• ENSP00000418876
• ENST00000485910
• ENSP00000418427
• ENST00000492948
• ENSP00000420103
• ENST00000545754
• ENSP00000437491

Symbol

• EXP
• KIAA0428
• MBNL
• EXP
• MBNL

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor perturbation	0.96
kinase perturbation	0.95
transcription factor binding site profile	0.92
transcription factor	0.91
microRNA	0.85

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Muscleblind-like Protein 1

DTO Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Muscleblind-like Protein 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 448.26   (req: < 5)

Gene RIFs: 72   (req: <= 3)

Antibodies: 326   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 448.26   (req: >= 5)

Gene RIFs: 72   (req: > 3)

Antibodies: 326   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0