InnateDB Protein
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IDBP-61703.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MBNL1
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Protein Name
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muscleblind-like (Drosophila)
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Synonyms
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EXP; EXP35; EXP40; EXP42; MBNL;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000319429
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InnateDB Gene
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IDBG-61701 (MBNL1)
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Protein Structure
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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. {ECO:0000269PubMed:10970838, ECO:0000269PubMed:15257297, ECO:0000269PubMed:16946708, ECO:0000269PubMed:18335541, ECO:0000269PubMed:19470458}.
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Subcellular Localization |
Nucleus. Cytoplasm. Cytoplasmic granule. Note=Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress. Localized in the cytoplasm of multinucleated myotubes. Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy.
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Disease Associations |
Dystrophia myotonica 1 (DM1) [MIM:160900]: A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. Note=The protein represented in this entry may be involved in disease pathogenesis. In muscle cells from patients, MBNL1 is sequestered by DMPK RNAs containing pathogenic CUG triplet repeat expansions. MBNL1 binding is proportional to repeat length consistent with the direct correlation between the length of repeat expansion and disease severity.
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Tissue Specificity |
Highly expressed in cardiac, skeletal muscle and during myoblast differentiation. Weakly expressed in other tissues (at protein level). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269PubMed:10970838, ECO:0000269PubMed:11929853}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
25
[view]
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Protein-Protein |
22
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000571
Zinc finger, CCCH-type
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PFAM |
PF00642
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PRINTS |
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PIRSF |
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SMART |
SM00356
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NR56
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PhosphoSite |
PhosphoSite-Q9NR56
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TrEMBL |
Q68DD0
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UniProt Splice Variant |
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Entrez Gene |
4154
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UniGene |
Hs.624516
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RefSeq |
NP_066368
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HUGO |
HGNC:6923
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OMIM |
606516
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CCDS |
CCDS3163
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HPRD |
07355
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IMGT |
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EMBL |
AB007888
AC026347
AC106722
AF255334
AF395876
AF401998
AF497718
AF497719
AJ308400
BC043493
CH471052
CR749454
Y13829
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GenPept |
AAF76138
AAH43493
AAK82889
AAK94915
AAP30726
AAP30727
BAA24858
CAA74155
CAC83727
CAH18290
EAW78775
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