Homo sapiens Gene: MBNL3
Summary
InnateDB Gene IDBG-86536.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MBNL3
Gene Name muscleblind-like splicing regulator 3
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000076770
Encoded Proteins
muscleblind-like 3 (Drosophila)
muscleblind-like 3 (Drosophila)
muscleblind-like 3 (Drosophila)
muscleblind-like 3 (Drosophila)
muscleblind-like 3 (Drosophila)
muscleblind-like 3 (Drosophila)
muscleblind-like 3 (Drosophila)
muscleblind-like 3 (Drosophila)
muscleblind-like 3 (Drosophila)
muscleblind-like 3 (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome X:132369317-132489968
Strand Reverse strand
Band q26.2
Transcripts
ENST00000370857 ENSP00000359894
ENST00000370853 ENSP00000359890
ENST00000370849 ENSP00000359886
ENST00000370844 ENSP00000359881
ENST00000370839 ENSP00000359876
ENST00000394311 ENSP00000377848
ENST00000442191 ENSP00000412065
ENST00000436215 ENSP00000406014
ENST00000421707 ENSP00000402128
ENST00000465964
ENST00000473364
ENST00000538204 ENSP00000439618
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
GO:0045662 negative regulation of myoblast differentiation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL B1AKI5
UniProt Splice Variant
Entrez Gene 55796
UniGene Hs.105134 Hs.596347 Hs.603756
RefSeq XM_005262442 NM_001170701 NM_001170702 NM_001170703 NM_001170704 NM_018388 NM_133486 XM_005262434 XM_005262435 XM_005262441
HUGO HGNC:20564
OMIM 300413
CCDS CCDS14633 CCDS14634 CCDS55492 CCDS55493 CCDS55494
HPRD 02329
IMGT
EMBL AL050310 AL161442
GenPept
RNA Seq Atlas 55796