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Aliases for MBNL1 Gene

Aliases for MBNL1 Gene

  • Muscleblind-Like Splicing Regulator 1 2 3
  • EXP 3 4 6
  • Triplet-Expansion RNA-Binding Protein 3 4
  • KIAA0428 4 6
  • MBNL 3 4
  • Muscleblind (Drosophila)-Like 2
  • Muscleblind-Like (Drosophila) 2
  • Muscleblind-Like Protein 1 3
  • EXP35 3
  • EXP40 3
  • EXP42 3

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

GeneCards Summary for MBNL1 Gene

MBNL1 (Muscleblind-Like Splicing Regulator 1) is a Protein Coding gene. Diseases associated with MBNL1 include myotonic dystrophy and myotonia. Among its related pathways are Adipogenesis. GO annotations related to this gene include 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 Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBNL1 Gene

Genomics for MBNL1 Gene

Regulatory Elements for MBNL1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MBNL1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MBNL1 Gene

    Alternative splice isoforms for MBNL1 Gene

neXtProt entry for MBNL1 Gene

Proteomics data for MBNL1 Gene at MOPED

Post-translational modifications for MBNL1 Gene

  • Ubiquitination at Lys12 and Lys41
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for MBNL1 Gene

Domains for MBNL1 Gene

Gene Families for MBNL1 Gene

HGNC:
  • ZC3H :Zinc fingers, CCCH-type domain containing

Protein Domains for MBNL1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MBNL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NR56

UniProtKB/Swiss-Prot:

MBNL1_HUMAN :
  • Q9NR56
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:0003723 RNA binding IDA 15257297
GO:0003725 double-stranded RNA binding IDA 10970838
GO:0005515 protein binding IPI 16946708
GO:0044822 poly(A) RNA binding IDA 22658674
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MBNL1: view

Phenotypes for MBNL1 Gene

MGI mutant phenotypes for MBNL1:
inferred from 1 alleles
GenomeRNAi human phenotypes for MBNL1:
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 Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MBNL1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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. Localized in the cytoplasm of multinucleated myotubes. Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MBNL1 Gene COMPARTMENTS Subcellular localization image for MBNL1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MBNL1 Gene

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

Pathways for MBNL1 Gene

SuperPathways for MBNL1 Gene

Superpath 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:0000380 alternative mRNA splicing, via spliceosome IEA --
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IEA --
GO:0001701 in utero embryonic development ISS --
GO:0006376 mRNA splice site selection IEA --
GO:0007399 nervous system development ISS --
genes like me logo Genes that share ontologies with MBNL1: view

Transcripts for MBNL1 Gene

Unigene Clusters for MBNL1 Gene

Muscleblind-like splicing regulator 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MBNL1

Primer Products

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 for MBNL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MBNL1 Gene

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 expressions with MBNL1: view

Expression partners for MBNL1 Gene

In Situ Assay 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
cow
(Bos Taurus)
Mammalia MBNL1 35
  • 97.29 (n)
  • 100 (a)
MBNL1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MBNL1 35
  • 96.81 (n)
  • 100 (a)
MBNL1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mbnl1 35
  • 94.85 (n)
  • 99.46 (a)
Mbnl1 16
Mbnl1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MBNL1 35
  • 99.83 (n)
  • 100 (a)
MBNL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mbnl1 35
  • 94.92 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia MBNL1 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MBNL1 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBNL1 35
  • 86.65 (n)
  • 99.22 (a)
MBNL1 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBNL1 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mbnl1 35
  • 83.82 (n)
  • 89.22 (a)
zebrafish
(Danio rerio)
Actinopterygii mbnl1 35
  • 75.42 (n)
  • 82.68 (a)
mbnl1 36
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mbl 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mbl-1 36
  • 24 (a)
OneToMany
Species with no ortholog for MBNL1:
  • 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

Selected 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 MAF
rs1382 -- 152,346,731(-) AAATT(C/G)AGAAT intron-variant
rs7221 -- 152,465,723(+) TTGAC(C/T)TTGCT utr-variant-3-prime
rs15169 -- 152,463,355(+) TTGCC(A/T)TTTCT utr-variant-3-prime
rs323617 -- 152,244,180(-) TACAC(A/T)TATAT upstream-variant-2KB
rs323618 -- 152,243,147(-) CCCAA(A/C)CTCCC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv877659 CNV Loss 21882294
dgv5278n71 CNV Loss 21882294
nsv483030 CNV Gain 15286789
esv28760 CNV Loss 19812545
esv1004210 CNV Loss 20482838
esv268705 CNV Insertion 20981092
esv8219 CNV Gain 19470904
esv273140 CNV Insertion 20981092

Relevant External Links for MBNL1 Gene

HapMap Linkage Disequilibrium report
MBNL1
Human Gene Mutation Database (HGMD)
MBNL1

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

Disorders for MBNL1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for MBNL1 Gene in MalaCards »

(2) Diseases for MBNL1 Gene including...

UniProtKB/Swiss-Prot

MBNL1_HUMAN
  • 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. 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.

(1) University of Copenhagen DISEASES for MBNL1 Gene

(1) Novoseek inferred disease relationships for MBNL1 Gene

Disease -log(P) Hits PubMed IDs
myotonic dystrophy 92 8
genes like me logo Genes that share disorders with MBNL1: view

No data available for OMIM , Genatlas and External Links 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 23
  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 23
  3. In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. (PMID: 11433021) Fardaei M. … Hamshere M.G. (Nucleic Acids Res. 2001) 3 23
  4. Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1- associated aberrant IR splicing. (PMID: 16946708) Paul S. … Reddy S. (EMBO J. 2006) 3 4
  5. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K. … Ohara O. (DNA Res. 1997) 3 4

Products for MBNL1 Gene

  • Addgene plasmids for MBNL1

Sources for MBNL1 Gene

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