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Aliases for MBNL1 Gene

Aliases for MBNL1 Gene

  • Muscleblind Like Splicing Regulator 1 2 3 5
  • Triplet-Expansion RNA-Binding Protein 3 4
  • MBNL 3 4
  • EXP 3 4
  • Muscleblind-Like Splicing Regulator 1 2
  • Muscleblind (Drosophila)-Like 2
  • Muscleblind-Like (Drosophila) 2
  • Muscleblind-Like Protein 1 3
  • Muscleblind-Like 3
  • KIAA0428 4

External Ids for MBNL1 Gene

Previous HGNC Symbols for MBNL1 Gene

  • MBNL

Previous GeneCards Identifiers for MBNL1 Gene

  • GC03P152830
  • GC03P153267
  • GC03P153307
  • GC03P153468
  • GC03P151961
  • GC03P149377

Summaries for MBNL1 Gene

Entrez Gene Summary for MBNL1 Gene

  • 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]

GeneCards Summary for MBNL1 Gene

MBNL1 (Muscleblind Like Splicing Regulator 1) is a Protein Coding gene. Diseases associated with MBNL1 include Myotonic Dystrophy and Hypertrophic Pyloric Stenosis. Among its related pathways are Adipogenesis. GO annotations related to this gene include poly(A) RNA binding and double-stranded RNA binding. An important paralog of this gene is MBNL2.

UniProtKB/Swiss-Prot for MBNL1 Gene

  • 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. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5-YGCU(U/G)Y-3consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues.

Gene Wiki entry for MBNL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBNL1 Gene

Genomics for MBNL1 Gene

Regulatory Elements for MBNL1 Gene

Enhancers for MBNL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F152191 1.7 FANTOM5 Ensembl ENCODE 15.9 -44.4 -44390 15.1 HDGF PKNOX1 ZNF133 YY1 CBX5 FOS GTF2B JUNB REST TBX21 MBNL1 LOC105374163 MBNL1-AS1 ENSG00000201217 AADACL2 GC03P152194 LOC101928166
GH03F152314 1.3 Ensembl ENCODE 11.6 +75.9 75919 10.1 PKNOX1 ATF1 ARNT YY1 CBX5 GATA2 ZNF143 FOS JUNB NCOA1 TMEM14EP MBNL1-AS1 MBNL1 LOC105374162 GC03M152329
GH03F152326 1.3 Ensembl ENCODE 10.7 +86.7 86652 7.4 HDGF PKNOX1 ATF1 ARNT YBX1 FEZF1 GATA2 FOS ZNF202 ZNF518A LOC105374163 ENSG00000201217 MBNL1-AS1 MBNL1 TMEM14EP GC03M152329 LOC105374162
GH03F152305 1.1 Ensembl ENCODE 11.6 +64.6 64617 5.0 RAD21 RARA ZNF121 GATA4 POLR3A FOS RCOR1 SREBF1 MBD2 MAFF TMEM14EP MBNL1-AS1 MBNL1 LOC105374162
GH03F152175 1 Ensembl ENCODE 12.6 -67.4 -67428 2.8 ATF1 JUN RAD21 RFX5 GATA2 ELK1 RCOR1 FOS TCF7L2 SMARCE1 MBNL1 MBNL1-AS1 TMEM14EP GC03P152194 LOC105374161
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MBNL1 on UCSC Golden Path with GeneCards custom track

Promoters for MBNL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001853793 1172 3601 ATF1 GTF3C2 ELK1 TBX21 CREB3 SMARCA4 PBX2 HMBOX1 KDM1A LEF1

Genomic Location for MBNL1 Gene

Chromosome:
3
Start:
152,243,828 bp from pter
End:
152,465,780 bp from pter
Size:
221,953 bases
Orientation:
Plus strand

Genomic View for MBNL1 Gene

Genes around MBNL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBNL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBNL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBNL1 Gene

Proteins for MBNL1 Gene

  • Protein details for MBNL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR56-MBNL1_HUMAN
    Recommended name:
    Muscleblind-like protein 1
    Protein Accession:
    Q9NR56
    Secondary Accessions:
    • E9PBW7
    • O43311
    • O43797
    • Q86UV8
    • Q86UV9
    • Q96P92
    • Q96RE3

    Protein attributes for MBNL1 Gene

    Size:
    388 amino acids
    Molecular mass:
    41817 Da
    Quaternary structure:
    • Interacts with DDX1 and YBX1. Interacts with HNRNPH1; the interaction in RNA-independent.
    SequenceCaution:
    • Sequence=BAA24858.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MBNL1 Gene

    Alternative splice isoforms for MBNL1 Gene

neXtProt entry for MBNL1 Gene

Post-translational modifications for MBNL1 Gene

  • Ubiquitination at Lys 12 and Lys 41
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for MBNL1 Gene

Domains & Families for MBNL1 Gene

Gene Families for MBNL1 Gene

Protein Domains for MBNL1 Gene

Suggested Antigen Peptide Sequences for MBNL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NR56

UniProtKB/Swiss-Prot:

MBNL1_HUMAN :
  • Belongs to the muscleblind family.
  • Contains 4 C3H1-type zinc fingers.
Family:
  • Belongs to the muscleblind family.
Similarity:
  • Contains 4 C3H1-type zinc fingers.
genes like me logo Genes that share domains with MBNL1: view

Function for MBNL1 Gene

Molecular function for MBNL1 Gene

UniProtKB/Swiss-Prot 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. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5-YGCU(U/G)Y-3consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues.

Gene Ontology (GO) - Molecular Function for MBNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001069 regulatory region RNA binding IEA --
GO:0003723 RNA binding IEA,IDA 15257297
GO:0003725 double-stranded RNA binding IDA 10970838
GO:0005515 protein binding IPI 16946708
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with MBNL1: view
genes like me logo Genes that share phenotypes with MBNL1: view

Animal Models for MBNL1 Gene

MGI Knock Outs for MBNL1:

Animal Model Products

miRNA for MBNL1 Gene

miRTarBase miRNAs that target MBNL1

Clone Products

  • Addgene plasmids for MBNL1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MBNL1 Gene

Localization for MBNL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBNL1 Gene

Nucleus. Cytoplasm. Cytoplasmic granule. Note=Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress (PubMed:18335541). Localized in the cytoplasm of multinucleated myotubes (PubMed:18335541). Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy (PubMed:10970838, PubMed:11590133, PubMed:11929853).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MBNL1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MBNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10970838
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 10970838
GO:0005813 centrosome IDA --
GO:0010494 cytoplasmic stress granule IDA 18335541
genes like me logo Genes that share ontologies with MBNL1: view

Pathways & Interactions for MBNL1 Gene

SuperPathways for MBNL1 Gene

SuperPathway Contained pathways
1 Adipogenesis
genes like me logo Genes that share pathways with MBNL1: view

Pathways by source for MBNL1 Gene

1 BioSystems pathway for MBNL1 Gene

Gene Ontology (GO) - Biological Process for MBNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development ISS --
GO:0006397 mRNA processing IEA --
GO:0007399 nervous system development ISS --
GO:0008380 RNA splicing IEA,IDA 18335541
GO:0030326 embryonic limb morphogenesis ISS --
genes like me logo Genes that share ontologies with MBNL1: view

No data available for SIGNOR curated interactions for MBNL1 Gene

Transcripts for MBNL1 Gene

Unigene Clusters for MBNL1 Gene

Muscleblind-like splicing regulator 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for MBNL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MBNL1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - - - -
SP6: - - - - - -
SP7: - - - - - - -
SP8: - -
SP9: - - - -
SP10: - - - - - -
SP11: - - - - -
SP12:

Relevant External Links for MBNL1 Gene

GeneLoc Exon Structure for
MBNL1
ECgene alternative splicing isoforms for
MBNL1

Expression for MBNL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MBNL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MBNL1 Gene



Protein tissue co-expression partners for MBNL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MBNL1 Gene:

MBNL1

SOURCE GeneReport for Unigene cluster for MBNL1 Gene:

Hs.201858

mRNA Expression by UniProt/SwissProt for MBNL1 Gene:

Q9NR56-MBNL1_HUMAN
Tissue specificity: Highly expressed in cardiac, skeletal muscle and during myoblast differentiation. Weakly expressed in other tissues (at protein level). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expression patterns with MBNL1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for MBNL1 Gene

Orthologs for MBNL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MBNL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBNL1 34 35
  • 99.83 (n)
cow
(Bos Taurus)
Mammalia MBNL1 34 35
  • 97.29 (n)
dog
(Canis familiaris)
Mammalia MBNL1 34 35
  • 96.81 (n)
oppossum
(Monodelphis domestica)
Mammalia MBNL1 35
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mbnl1 34
  • 94.92 (n)
mouse
(Mus musculus)
Mammalia Mbnl1 34 16 35
  • 94.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MBNL1 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBNL1 34 35
  • 86.65 (n)
lizard
(Anolis carolinensis)
Reptilia MBNL1 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mbnl1 34
  • 83.82 (n)
zebrafish
(Danio rerio)
Actinopterygii mbnl1 34 35
  • 75.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta mbl 35
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mbl-1 35
  • 24 (a)
OneToMany
Species where no ortholog for MBNL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MBNL1 Gene

ENSEMBL:
Gene Tree for MBNL1 (if available)
TreeFam:
Gene Tree for MBNL1 (if available)

Paralogs for MBNL1 Gene

Paralogs for MBNL1 Gene

(3) SIMAP similar genes for MBNL1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with MBNL1: view

Variants for MBNL1 Gene

Sequence variations from dbSNP and Humsavar for MBNL1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs17433672 Benign 152,268,473(+) CTTGC(C/T)GGCTT intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1025567 -- 152,388,190(-) AGAGC(A/T)CCTGA intron-variant
rs1025568 -- 152,388,019(-) AGAAC(G/T)GATTA intron-variant
rs10433452 -- 152,380,737(+) TTTTT(A/T)AAAAA intron-variant
rs10513423 -- 152,283,442(+) ACTTA(C/T)GATGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MBNL1 Gene

Variant ID Type Subtype PubMed ID
esv1004210 CNV loss 20482838
esv28760 CNV loss 19812545
esv3304427 CNV mobile element insertion 20981092
esv3329509 CNV insertion 20981092
esv3335399 CNV duplication 20981092
esv3362715 CNV insertion 20981092
esv3396282 CNV insertion 20981092
esv3598207 CNV loss 21293372
nsv954494 CNV duplication 24416366
nsv954493 CNV duplication 24416366
nsv483030 CNV gain 15286789
esv8219 CNV gain 19470904

Variation tolerance for MBNL1 Gene

Residual Variation Intolerance Score: 15.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MBNL1 Gene

Human Gene Mutation Database (HGMD)
MBNL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBNL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBNL1 Gene

Disorders for MBNL1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for MBNL1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myotonic dystrophy
  • myotonic dystrophy 1
hypertrophic pyloric stenosis
  • congenital hypertrophic pyloric stenosis
pyloric stenosis
myotonic disease
  • myotonic disorders
myotonic dystrophy 1
  • myotonic dystrophy type 1
- elite association - COSMIC cancer census association via MalaCards
Search MBNL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MBNL1_HUMAN
  • Corneal dystrophy, Fuchs endothelial, 3 (FECD3) [MIM:613267]: A late-onset form of Fuchs endothelial corneal dystrophy, a disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO:0000269 PubMed:25593321}. Note=The protein represented in this entry is involved in disease pathogenesis. In corneal endothelial cells from patients, MBNL1 is sequestered by TCF4 RNAs containing pathogenic CUG triplet repeat expansions. This results in missplicing of essential MBNL1-regulated mRNAs. {ECO:0000269 PubMed:25593321}.
  • Dystrophia myotonica 1 (DM1) [MIM:160900]: A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. {ECO:0000269 PubMed:11929853, ECO:0000269 PubMed:27222292}. Note=The protein represented in this entry may be involved in disease pathogenesis. In muscle cells from patients, MBNL1 is sequestered by DMPK RNAs containing pathogenic CUG triplet repeat expansions. MBNL1 binding is proportional to repeat length consistent with the direct correlation between the length of repeat expansion and disease severity.

Relevant External Links for MBNL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MBNL1
genes like me logo Genes that share disorders with MBNL1: view

No data available for Genatlas for MBNL1 Gene

Publications for MBNL1 Gene

  1. Muscleblind proteins regulate alternative splicing. (PMID: 15257297) Ho T.H. … Cooper T.A. (EMBO J. 2004) 3 4 22 64
  2. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. (PMID: 10970838) Miller J.W. … Swanson M.S. (EMBO J. 2000) 3 4 22 64
  3. Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. (PMID: 19095965) Holt I. … Morris G.E. (Am. J. Pathol. 2009) 3 22 64
  4. Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2. (PMID: 19345584) Cardani R. … Meola G. (Neuromuscul. Disord. 2009) 3 22 64
  5. MBNL1 associates with YB-1 in cytoplasmic stress granules. (PMID: 18335541) Onishi H. … Ishiura S. (J. Neurosci. Res. 2008) 3 4 64

Products for MBNL1 Gene

Sources for MBNL1 Gene

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