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MBNL1 Gene

protein-coding   GIFtS: 61
GCID: GC03P151961

Muscleblind-Like Splicing Regulator 1

(Previous names: muscleblind (Drosophila)-like, muscleblind-like (Drosophila))
(Previous symbol: MBNL)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Muscleblind-Like Splicing Regulator 11 2     Muscleblind-Like (Drosophila)1
MBNL1 2 3     EXP352
EXP2 3 5     EXP402
Triplet-Expansion RNA-Binding Protein2 3     EXP422
KIAA04283 5     Muscleblind-Like Protein 12
Muscleblind (Drosophila)-Like1     

External Ids:    HGNC: 69231   Entrez Gene: 41542   Ensembl: ENSG000001526017   OMIM: 6065165   UniProtKB: Q9NR563   

Export aliases for MBNL1 gene to outside databases

Previous GC identifers: GC03P152830 GC03P153267 GC03P153307 GC03P153468 GC03P149377


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MBNL1 Gene:
MBNL1 (muscleblind-like splicing regulator 1) is a protein-coding gene. Diseases associated with MBNL1 include mixed malaria, and myotonic dystrophy type 1. GO annotations related to this gene include double-stranded RNA binding and RNA binding. An important paralog of this gene is MBNL3.

UniProtKB/Swiss-Prot: MBNL1_HUMAN, Q9NR56
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-3'consensus 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MBNL1 gene promoter:
         RORalpha1   AREB6   GR   Spz1   POU2F1   POU2F1a   GR-alpha   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MBNL1 promoter sequence
   Search Chromatin IP Primers for MBNL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MBNL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q25   Ensembl cytogenetic band:  3q25.1   HGNC cytogenetic band: 3q25

MBNL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBNL1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P151961:  view genomic region     (about GC identifiers)

Start:
151,961,617 bp from pter      End:
152,183,569 bp from pter
Size:
221,953 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MBNL1_HUMAN, Q9NR56 (See protein sequence)
Recommended Name: Muscleblind-like protein 1  
Size: 388 amino acids; 41817 Da
Subunit: Interacts with DDX1 and YBX1. Interacts with HNRNPH1; the interaction in RNA-independent
Sequence caution: Sequence=BAA24858.2; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for MBNL1:
3D2N (3D)        3D2Q (3D)        3D2S (3D)    
Secondary accessions: E9PBW7 O43311 O43797 Q86UV8 Q86UV9 Q96P92 Q96RE3
Alternative splicing: 7 isoforms:  Q9NR56-1   Q9NR56-2   Q9NR56-3   Q9NR56-4   Q9NR56-5   Q9NR56-6   Q9NR56-7   (Ref.6 (AAP30726) sequence is in conflict in position: 317:A->AA)

Explore the universe of human proteins at neXtProt for MBNL1: NX_Q9NR56

Explore proteomics data for MBNL1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys12, Lys41
  • Modification sites at PhosphoSitePlus

  • See MBNL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_066368.2  NP_997175.1  NP_997176.1  NP_997177.1  NP_997178.1  NP_997179.1  NP_997180.1  

    ENSEMBL proteins: 
     ENSP00000347637   ENSP00000417741   ENSP00000419347   ENSP00000319429   ENSP00000417169  
     ENSP00000420680   ENSP00000420327   ENSP00000418427   ENSP00000418108   ENSP00000417630  
     ENSP00000420103   ENSP00000418876   ENSP00000418109   ENSP00000418508   ENSP00000282486  
     ENSP00000282488   ENSP00000319374   ENSP00000437491   ENSP00000350064  

    MBNL1 Human Recombinant Protein Products:

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    Novus Biologicals MBNL1 Proteins
    Novus Biologicals MBNL1 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MBNL1

    MBNL1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MBNL1
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    Abcam antibodies for MBNL1
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    ThermoFisher Antibodies for MBNL1
    LSBio Antibodies in human, mouse, rat for MBNL1

    MBNL1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MBNL1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MBNL1
    Cloud-Clone Corp. CLIAs for MBNL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZC3H: Zinc fingers, CCCH-type domain containing

    1 InterPro protein domain:
     IPR000571 Znf_CCCH

    Graphical View of Domain Structure for InterPro Entry Q9NR56

    ProtoNet protein and cluster: Q9NR56

    1 Blocks protein domain: IPB000571 Zn-finger

    UniProtKB/Swiss-Prot: MBNL1_HUMAN, Q9NR56
    Similarity: Belongs to the muscleblind family
    Similarity: Contains 4 C3H1-type zinc fingers


    MBNL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MBNL1_HUMAN, Q9NR56
    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-3'consensus 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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IDA15257297
    GO:0003725double-stranded RNA binding IDA10970838
    GO:0005515protein binding IPI16946708
    GO:0044822poly(A) RNA binding IDA--
    GO:0046872metal ion binding IEA--
         
    MBNL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MBNL1:
     Increased G1 DNA content 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mbnl1):
     muscle  vision/eye 

    MBNL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mbnl1tm1Sws for MBNL1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MBNL1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MBNL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MBNL1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MBNL1:
    hsa-mir-92a-3p (MIRT049609), hsa-mir-124-3p (MIRT022379), hsa-mir-130b-3p (MIRT020228), hsa-mir-30a-5p (MIRT005135), hsa-mir-221-3p (MIRT046941), hsa-mir-21-5p (MIRT030796), hsa-mir-92b-3p (MIRT040632), hsa-mir-17-5p (MIRT050835), hsa-mir-19b-3p (MIRT031192)

    Block miRNA regulation of human, mouse, rat MBNL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MBNL1 (see all 218):
    hsa-miR-576-3p hsa-miR-520f hsa-miR-640 hsa-miR-631 hsa-miR-199a-3p hsa-miR-4305 hsa-miR-938 hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): MBNL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MBNL1
    Predesigned siRNA for gene silencing in human, mouse, rat MBNL1

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): MBNL1 (NM_207293)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBNL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBNL1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBNL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MBNL1_HUMAN, Q9NR56: 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: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0010494cytoplasmic stress granule IDA18335541

    MBNL1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MBNL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Adipogenesis
    Adipogenesis


    1 BioSystems Pathway for MBNL1
        Adipogenesis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MBNL1
    Interactions:

        GeneGlobe Interaction Network for MBNL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MBNL1 (Q9NR562, 3 ENSP000002824864) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HNRNPH1P319432, 3, ENSP000003491684MINT-3089317 I2D: score=1 STRING: ENSP00000349168
    CELF1Q928792, 3, ENSP000003514094MINT-3089352 I2D: score=1 STRING: ENSP00000351409
    DDX17ENSP000003800334STRING: ENSP00000380033
    DDX5ENSP000002257924STRING: ENSP00000225792
    DHX9ENSP000003565204STRING: ENSP00000356520
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000380alternative mRNA splicing, via spliceosome IEA--
    GO:0000381regulation of alternative mRNA splicing, via spliceosome IEA--
    GO:0001701in utero embryonic development ISS--
    GO:0006376mRNA splice site selection IEA--
    GO:0007399nervous system development ISS--

    MBNL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MBNL1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MBNL1 gene (7 alternative transcripts): 
    NM_021038.3  NM_207292.1  NM_207293.1  NM_207294.1  NM_207295.1  NM_207296.1  NM_207297.1  

    Unigene Cluster for MBNL1:

    Muscleblind-like splicing regulator 1
    Hs.201858  [show with all ESTs]
    Unigene Representative Sequence: NM_021038
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000477171 ENST00000355460(uc003ezo.3) ENST00000461436 ENST00000495875
    ENST00000493459 ENST00000324210 ENST00000459747 ENST00000460591 ENST00000466565(uc003ezk.1)
    ENST00000498502 ENST00000485910 ENST00000463374 ENST00000465907 ENST00000492948
    ENST00000485509 ENST00000464596 ENST00000460166 ENST00000478535
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MBNL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MBNL1 (see all 218):
    hsa-miR-576-3p hsa-miR-520f hsa-miR-640 hsa-miR-631 hsa-miR-199a-3p hsa-miR-4305 hsa-miR-938 hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): MBNL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MBNL1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): MBNL1 (NM_207293)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBNL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBNL1
    Primer
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    OriGene qPCR primer pairs and template standards for MBNL1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MBNL1
      QuantiTect SYBR Green Assays in human, mouse, rat MBNL1
      QuantiFast Probe-based Assays in human, mouse, rat MBNL1

    Additional mRNA sequence: 

    AB007888.1 AF255334.1 AF395876.1 AF401998.1 AF497718.1 AF497719.1 AJ227863.1 AJ308400.1 
    AK021883.1 AK297133.1 AK304089.1 AK307420.1 BC005296.1 BC043493.1 BC050535.1 BX537491.1 
    CR749454.1 Y13829.1 

    24 DOTS entries:

    DT.100726366  DT.40119672  DT.95146837  DT.97855110  DT.95146835  DT.101978111  DT.102838406  DT.92450133 
    DT.406938  DT.75119899  DT.120852038  DT.95352707  DT.120851926  DT.92450084  DT.92450086  DT.40276103 
    DT.92450096  DT.100856141  DT.120851922  DT.91741471  DT.95223561  DT.120851986  DT.92450089  DT.95146818 

    Selected AceView cDNA sequences (see all 590):

    T35496 BM723923 N90798 BX508074 AA641949 BG682284 AV717079 AW298345 
    BQ231462 BP337481 AF401998 BM469700 AA262821 T33992 BQ942880 BG257314 
    T32546 AA641898 AF255334 BM842189 AI284451 AA602636 BQ019795 R83588 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MBNL1 (see all 12)    About this scheme

    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:                                -     -                 -                 -                       -           -     -                     


    ECgene alternative splicing isoforms for MBNL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MBNL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTTAATTT
    MBNL1 Expression
    About this image


    MBNL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
    MBNL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MBNL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.201858

    UniProtKB/Swiss-Prot: MBNL1_HUMAN, Q9NR56
    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

        Custom PCR Arrays for MBNL1
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    QuantiFast Probe-based Assays in human, mouse, rat MBNL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBNL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MBNL1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mbnl11 , 5 muscleblind-like 1 (Drosophila)1, 5 94.85(n)1
    99.46(a)1
      3 (29.17 cM)5
    567581  NM_020007.31  NP_064391.21 
     605012525 
    chicken
    (Gallus gallus)
    Aves MBNL11 muscleblind-like (Drosophila) 86.65(n)
    99.22(a)
      425033  NM_001163324.1  NP_001156796.1 
    lizard
    (Anolis carolinensis)
    Reptilia MBNL16
    muscleblind-like splicing regulator 1
    89(a)
    1 ↔ 1
    3(17434932-17613436)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU906729.12   -- 87.99(n)    BU906729.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AL919386.12   -- 79.37(n)    AL919386.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mbl6
    muscleblind
    16(a)
    1 → many
    2R(13104054-13266881)
    worm
    (Caenorhabditis elegans)
    Secernentea mbl-16
    Protein MBL-1, isoform a (mbl-1) mRNA, complete cd...
    24(a)
    1 → many
    X(17001728-17008361) WBGene00019347


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MBNL1 gene
    MBNL32  MBNL22  
    3 SIMAP similar genes for MBNL1 using alignment to 8 protein entries:     MBNL1_HUMAN (see all proteins):
    MBLL    MBNL2    MBNL3

    MBNL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MBNL1 (see all 3356)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs730263531,2
    C--151989455(+) AAAGAG/ATGGAG 2 -- int11Minor allele frequency- A:0.50WA 2
    rs1456636161,2
    --151989494(+) ATTGGC/TCCAAA 2 -- int10--------
    rs1911143931,2
    --151989521(+) CATATA/GGATCA 2 -- int10--------
    rs1397636901,2
    C--151989828(+) TCTTT-/TCTCTCT 2 -- int10--------
    rs633531601,2
    C--151989829(+) TCTCT-/CT/TC 
            
    TTCAT
    2 -- int10--------
    rs711441071,2
    C--151989832(-) ATGAA-/AGAG  
            
    AGAGA
    2 -- int11Minor allele frequency- AGAG:0.00NA 2
    rs1383083631,2
    --151989943(+) GAAAAC/TAATAT 2 -- int10--------
    rs746688701,2
    F--151990014(+) ACATAG/AAAATA 2 -- int11Minor allele frequency- A:0.02NA 120
    rs1418962991,2
    --151990194(+) ATAGAA/GTATGA 2 -- int10--------
    rs796882261,2
    --151990256(+) TACCAA/GACATA 2 -- int10--------

    HapMap Linkage Disequilibrium report for MBNL1 (151961617 - 152183569 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MBNL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv268705CNV Insertion20981092
    esv273140CNV Insertion20981092
    esv28760CNV Loss19812545
    nsv877659CNV Loss21882294
    esv1004210CNV Loss20482838
    dgv5278n71CNV Loss21882294
    nsv483030CNV Gain15286789
    esv8219CNV Gain19470904

    Human Gene Mutation Database (HGMD): MBNL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MBNL1
    DNA2.0 Custom Variant and Variant Library Synthesis for MBNL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606516    OMIM disorders: --

    UniProtKB/Swiss-Prot: MBNL1_HUMAN, Q9NR56
  • 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

  • 18 diseases for MBNL1:    
    About MalaCards
    mixed malaria    myotonic dystrophy type 1    myotonic dystrophy type 2    congenital myotonic dystrophy
    myotonic dystrophy    myotonia    social phobia    hypertrophic pyloric stenosis
    pyloric stenosis    cholelithiasis    hypogonadism    muscular atrophy
    malaria    cataract    muscular dystrophy    myopathy
    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for MBNL1:
    Myotonic dystrophy

    MBNL1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for MBNL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myotonic dystrophy 92 9 19095965 (2), 18653337 (1), 19345584 (1), 16723374 (1) (see all 7)


    Export disorders for MBNL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MBNL1 gene, integrated from 10 sources (see all 72):
    (articles sorted by number of sources associating them with MBNL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. (PubMed id 10970838)1, 2, 9 Miller J.W.... Swanson M.S. (EMBO J. 2000)
    2. Muscleblind proteins regulate alternative splicing. (PubMed id 15257297)1, 2, 9 Ho T.H....Cooper T.A. (EMBO J. 2004)
    3. MBNL1 associates with YB-1 in cytoplasmic stress granules. (PubMed id 18335541)1, 2 Onishi H.... Ishiura S. (J. Neurosci. Res. 2008)
    4. Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1. (PubMed id 19043415)1, 2 Teplova M. and Patel D.J. (Nat. Struct. Mol. Biol. 2008)
    5. Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1- associated aberrant IR splicing. (PubMed id 16946708)1, 2 Paul S....Reddy S. (EMBO J. 2006)
    6. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. (PubMed id 11929853)1, 2 Fardaei M.... Brook J.D. (Hum. Mol. Genet. 2002)
    7. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. (PubMed id 11590133)1, 2 Mankodi A.... Thornton C.A. (Hum. Mol. Genet. 2001)
    8. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9455477)1, 2 Ishikawa K.... Ohara O. (DNA Res. 1997)
    9. Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. (PubMed id 19095965)1, 9 Holt I....Morris G.E. (Am. J. Pathol. 2009)
    10. Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2. (PubMed id 19345584)1, 9 Cardani R....Meola G. (Neuromuscul. Disord. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4154 HGNC: 6923 AceView: MBNL1 Ensembl:ENSG00000152601 euGenes: HUgn4154
    ECgene: MBNL1 H-InvDB: MBNL1

    (According to HUGE)
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    HUGE: KIAA0428

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MBNL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MBNL1 gene:
    Search GeneIP for patents involving MBNL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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