InnateDB Protein
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IDBP-86546.7
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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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MBNL3
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Protein Name
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muscleblind-like 3 (Drosophila)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000359876
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InnateDB Gene
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IDBG-86536 (MBNL3)
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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. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction. {ECO:0000269PubMed:12297108, ECO:0000269PubMed:15257297}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:11929853}. Cytoplasm {ECO:0000269PubMed:11929853}. Note=Greater concentration in the nucleus. In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts.
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Disease Associations |
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Tissue Specificity |
Highly expressed in the placenta. {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 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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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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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 |
Q9NUK0
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PhosphoSite |
PhosphoSite-Q9NUK0
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
55796
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UniGene |
Hs.603756
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RefSeq |
NP_597846
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HUGO |
HGNC:20564
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OMIM |
300413
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CCDS |
CCDS14634
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HPRD |
02329
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IMGT |
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EMBL |
AB077698
AB077699
AF467070
AF491305
AJ427918
AJ427919
AK002178
AK300248
AL050310
AL133625
AL161442
AY072692
AY372211
BC042090
BC074775
BC074776
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GenPept |
AAH42090
AAH74775
AAH74776
AAL65661
AAL87670
AAM09533
AAQ75759
BAA92124
BAB85648
BAB85649
BAG62014
CAB63751
CAD20869
CAD20870
CAI43102
CAI43105
CAI43106
CAI43108
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