MBNL1
Sign in to saveAlso known as EXP, EXP35, EXP40, EXP42, MBNL, muscleblind like splicing regulator 1
Muscleblind Like Splicing Regulator 1 (MBNL1) is an RNA splicing protein that in humans is encoded by the MBNL1 gene. It has a well characterized role in Myotonic dystrophy where impaired splicing disrupts muscle development and function. In addition to regulating mRNA maturation of hundreds of genes MBNL1 (along with its paralogs MBNL2 & MBNL3) autoregulate alternative splicing of the MBNL1 pre-mRNA transcript. The founding member of the human MBNL family of proteins was the Drosophila Muscleblind protein (PMID 9334280).
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Vinony's link graph records 6 inbound references to MBNL1, and connects out to PubMed, Ensembl genome database project and protein.
It is catalogued under the topic Genes on human chromosome 3.
Vinony links it to 6 Wikipedia language editions.
Gene data
MBNL1- Name
- muscleblind like splicing regulator 1
- Type
- protein-coding
- Position
- 152,243,504–152,466,146 (+)
- Aliases
- EXP, MBNL
- Ensembl
- ENSG00000152601
- RefSeq RNA
- NM_001314057.2, NM_001363870.1, NM_001376818.1, NM_001376819.1, NM_001376820.1
- RefSeq protein
- NP_001300986.1, NP_001350799.1, NP_001363747.1, NP_001363748.1, NP_001363749.1
This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
muscleblind like splicing regulator 1
- Symbol
- MBNL1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:152,243,504-152,466,146
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein MBNL1 PDB 3D2N.png
Show 8 more facts
- HomoloGene ID
- 23186
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/4154
- genomic start
- 151961617
- chromosome
- human chromosome 3
- genomic end
- 152183569
- cytogenetic location
- 3q25.1-q25.2
- genetic association
- myotonic dystrophy
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
Muscleblind Like Splicing Regulator 1 (MBNL1) is an RNA splicing protein that in humans is encoded by the MBNL1 gene. It has a well characterized role in Myotonic dystrophy where impaired splicing disrupts muscle development and function. In addition to regulating mRNA maturation of hundreds of genes MBNL1 (along with its paralogs MBNL2 & MBNL3) autoregulate alternative splicing of the MBNL1 pre-mRNA transcript. The founding member of the human MBNL family of proteins was the Drosophila Muscleblind protein (PMID 9334280).
Human MBNL1 is an alternative splicing regulator that harbors dual function as both a repressor and activator for terminal muscle differentiation. The repressive function of Human MBNL1 by sequestering at normal splice sites has been shown to lead to RNA-splicing defects that lead to muscular diseases. The gene can be alternatively spliced into multiple functionally distinct isoforms, some of which linked to be involved in cancer biology.
Excerpted from Wikipedia’s “MBNL1” article, available under the CC BY-SA 4.0 licence.