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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 splici ...more
Uniprot Accession IDs
Gene Name
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
Illumination Graph
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


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 312.42   (req: < 5)
Gene RIFs: 51   (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: 312.42   (req: >= 5)
Gene RIFs: 51   (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
GWAS Traits (16)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
testosterone measurement
4
3
4
97.2
3
3
2
1.1
89.8
balding measurement
1
1
1
78.8
neutrophil count
2
2
2
63
myeloid white cell count
1
1
1
52.9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
testosterone measurement
4
97.2
2
1.1
89.8
balding measurement
1
78.8
neutrophil count
2
63
myeloid white cell count
1
52.9
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
muscleblind like splicing regulator 1
VGNC:2039
460787
Macaque
muscleblind like splicing regulator 1
708735
Mouse
MGI:1928482
56758
Rat
RGD:628668
282635
Dog
muscleblind like splicing regulator 1
VGNC:43057
477116
Species
Name
OMA
EggNOG
Inparanoid
Chimp
muscleblind like splicing regulator 1
Macaque
muscleblind like splicing regulator 1
Mouse
Rat
Dog
muscleblind like splicing regulator 1
Protein Structure (6 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q9NR56-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 6
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Gene Ontology Terms (17)
Items per page:
10
1 – 4 of 4
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (184)
1 – 10 of 184
MBNL3
Tbio
Novelty: 0.0492081
p_int: 0.999999999
p_wrong: 1e-9
Score: 0.398
Data Source: BioPlex,STRINGDB
MBNL2
Tbio
Novelty: 0.02398556
p_int: 0.999999845
p_ni: 1e-9
p_wrong: 1.53e-7
Score: 0.578
Data Source: BioPlex,STRINGDB
ROPN1
Tbio
Novelty: 0.05375245
p_int: 0.997590304
p_ni: 0.002382684
p_wrong: 0.000027012
Score: 0.309
Data Source: BioPlex,STRINGDB
SSBP4
Tdark
Novelty: 0.27365687
p_int: 0.962510138
p_ni: 0.036443579
p_wrong: 0.001046283
Score: 0.189
Data Source: BioPlex,STRINGDB
RBFOX2
Tbio
Novelty: 0.00856339
p_int: 0.945319506
p_ni: 0.019550325
p_wrong: 0.035130168
Score: 0.769
Data Source: BioPlex,STRINGDB
IARS2
Tbio
Family: Enzyme
Novelty: 0.00854621
p_int: 0.879989696
p_ni: 0.120010304
Score: 0.169
Data Source: BioPlex,STRINGDB
CELF1
Tbio
Novelty: 0.00666261
Score: 0.944
Data Source: STRINGDB
HNRNPH1
Tbio
Novelty: 0.01273351
Score: 0.915
Data Source: STRINGDB
HNRNPL
Tbio
Novelty: 0.01048413
Score: 0.882
Data Source: STRINGDB
HNRNPA2B1
Tbio
Novelty: 0.00404935
Score: 0.862
Data Source: STRINGDB
Publication Statistics
PubMed Score  312.42

PubMed score by year
PubTator Score  318.12

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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