Version 5.4
Homo sapiens Gene: MBNL1
Summary
InnateDB Gene IDBG-61701.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MBNL1
Gene Name muscleblind-like splicing regulator 1
Synonyms EXP; EXP35; EXP40; EXP42; MBNL
Species Homo sapiens
Ensembl Gene ENSG00000152601
Encoded Proteins
IDBP-61703
muscleblind-like (Drosophila)
IDBP-61705
muscleblind-like (Drosophila)
IDBP-61707
muscleblind-like (Drosophila)
IDBP-61709
muscleblind-like (Drosophila)
IDBP-61711
muscleblind-like (Drosophila)
IDBP-61713
muscleblind-like (Drosophila)
IDBP-481568
muscleblind-like (Drosophila)
IDBP-480312
muscleblind-like (Drosophila)
IDBP-484823
muscleblind-like (Drosophila)
IDBP-476449
muscleblind-like (Drosophila)
IDBP-476625
muscleblind-like (Drosophila)
IDBP-485282
muscleblind-like (Drosophila)
IDBP-477310
muscleblind-like (Drosophila)
IDBP-484845
muscleblind-like (Drosophila)
IDBP-478592
muscleblind-like (Drosophila)
IDBP-474086
muscleblind-like (Drosophila)
IDBP-480065
muscleblind-like (Drosophila)
IDBP-480134
muscleblind-like (Drosophila)
IDBP-593180
muscleblind-like (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Currently no Entrez Summary Available. You might want to check the Summary Sections of the Orthologs.
Gene Information
Type Protein coding
Genomic Location Chromosome 3:152243828-152465780
Strand Forward strand
Band q25.1
Transcripts
ENST00000324210 ENSP00000319429
ENST00000355460 ENSP00000347637
ENST00000357472 ENSP00000350064
ENST00000282488 ENSP00000282488
ENST00000282486 ENSP00000282486
ENST00000324196 ENSP00000319374
ENST00000477171
ENST00000461436
ENST00000495875 ENSP00000417741
ENST00000493459 ENSP00000419347
ENST00000459747 ENSP00000417169
ENST00000460591 ENSP00000420680
ENST00000466565
ENST00000498502 ENSP00000420327
ENST00000485910 ENSP00000418427
ENST00000463374 ENSP00000418108
ENST00000465907 ENSP00000417630
ENST00000492948 ENSP00000420103
ENST00000485509 ENSP00000418876
ENST00000464596 ENSP00000418109
ENST00000460166
ENST00000478535 ENSP00000418508
ENST00000497971
ENST00000545754 ENSP00000437491
Interactions
Number of Interactions 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]
Protein-Protein 22 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003723 RNA binding
GO:0003725 double-stranded RNA binding
GO:0005515 protein binding
GO:0044822 poly(A) RNA binding
GO:0046872 metal ion binding
Biological Process
GO:0000380 alternative mRNA splicing, via spliceosome
GO:0000381 regulation of alternative mRNA splicing, via spliceosome
GO:0001701 in utero embryonic development
GO:0006376 mRNA splice site selection
GO:0007399 nervous system development
GO:0007519 skeletal muscle tissue development
GO:0008380 RNA splicing
GO:0030326 embryonic limb morphogenesis
GO:0043484 regulation of RNA splicing
GO:0045445 myoblast differentiation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0010494 cytoplasmic stress granule
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000027763
View Gene Order
ENSBTAG00000004564
Not yet available
Cross-References
SwissProt
TrEMBL H7C4Y1
UniProt Splice Variant
Entrez Gene 4154
UniGene Hs.201858 Hs.624516
RefSeq NM_021038 NM_207292 NM_207293 NM_207294 NM_207295 NM_207296 NM_207297 XM_005247464 XM_005247466 XM_005247469 XM_005247470 XM_005247471 XM_005247474 XM_005247475 XM_005247476 XM_005247477 XM_006713640 XM_006713641
HUGO HGNC:6923
OMIM 606516
CCDS CCDS3163 CCDS3164 CCDS3165 CCDS3166 CCDS3167 CCDS3168 CCDS54656
HPRD 07355
IMGT
EMBL AC026347 AC106722
GenPept
RNA Seq Atlas 4154

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