Version 5.4
Homo sapiens Protein: MBNL3
Summary
InnateDB Protein IDBP-86544.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MBNL3
Protein Name muscleblind-like 3 (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000359881
InnateDB Gene IDBG-86536 (MBNL3)
Protein Structure
UniProt Annotation
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}.
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.
Disease Associations
Tissue Specificity Highly expressed in the placenta. {ECO:0000269PubMed:11929853}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0044822 poly(A) RNA binding
GO:0046872 metal ion binding
Biological Process
GO:0006397 mRNA processing
GO:0007275 multicellular organismal development
GO:0008380 RNA splicing
GO:0043484 regulation of RNA splicing
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR000571 Zinc finger, CCCH-type
PFAM PF00642
PRINTS
PIRSF
SMART SM00356
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NUK0
PhosphoSite PhosphoSite-Q9NUK0
TrEMBL B1AKI5
UniProt Splice Variant
Entrez Gene 55796
UniGene Hs.603756
RefSeq NP_001164175
HUGO HGNC:20564
OMIM 300413
CCDS CCDS55492
HPRD 02329
IMGT
EMBL AB077698 AB077699 AF467070 AF491305 AJ427918 AJ427919 AK002178 AK300248 AL050310 AL133625 AL161442 AY072692 AY372211 BC042090 BC074775 BC074776
GenPept AAH42090 AAH74775 AAH74776 AAL65661 AAL87670 AAM09533 AAQ75759 BAA92124 BAB85648 BAB85649 BAG62014 CAB63751 CAD20869 CAD20870 CAI43102 CAI43105 CAI43106 CAI43108

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca