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    mbl muscleblind [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 36945, updated on 9-Dec-2024

    Summary

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    Official Symbol
    mblprovided by FlyBase
    Official Full Name
    muscleblindprovided by FlyBase
    Primary source
    FLYBASE:FBgn0265487
    Locus tag
    Dmel_CG33197
    See related
    AllianceGenome:FB:FBgn0265487
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    BG01127; CG10941; CG14477; CG33197; chaste; chst; cht; Dmel\CG33197; l(2)01038; l(2)k01212; l(2)k05507; mb1; Mbl; MBL; mbn; mm; n(2)k07110
    Summary
    Predicted to enable RNA binding activity. Involved in several processes, including muscle cell cellular homeostasis; regulation of alternative mRNA splicing, via spliceosome; and rhabdomere development. Located in nucleus; perinuclear region of cytoplasm; and sarcomere. Is expressed in several structures, including Y chromosome loop; brain; imaginal disc; somatic muscle cell; and visual system neurons. Used to study dilated cardiomyopathy; myotonic dystrophy type 1; and myotonic dystrophy type 2. Orthologous to human MBNL1 (muscleblind like splicing regulator 1); MBNL2 (muscleblind like splicing regulator 2); and MBNL3 (muscleblind like splicing regulator 3). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See mbl in Genome Data Viewer
    Location:
    54A3-54B5; 2-82 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2R NT_033778.4 (17216549..17379376)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2R NT_033778.3 (13104054..13266881)

    Chromosome 2R - NT_033778.4Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene long non-coding RNA:CR46235 Neighboring gene long non-coding RNA:CR43660 Neighboring gene long non-coding RNA:CR45997 Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene long non-coding RNA:CR43661 Neighboring gene transfer RNA:Alanine-TGC 1-1 Neighboring gene long non-coding RNA:CR44344

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Regulation of Transcription by Circular RNAs. Bose R, et al. Adv Exp Med Biol, 2018. PMID 30259359
    2. A fly model for the CCUG-repeat expansion of myotonic dystrophy type 2 reveals a novel interaction with MBNL1. Yu Z, et al. Hum Mol Genet, 2015 Feb 15. PMID 25305073, Free PMC Article
    3. RNA binding specificity of Drosophila muscleblind. Goers ES, et al. Biochemistry, 2008 Jul 8. PMID 18557632, Free PMC Article
    4. The emerging role of circular RNAs in transcriptome regulation. Huang S, et al. Genomics, 2017 Oct. PMID 28655641
    5. Circular RNAs in Eukaryotic Cells. Chen L, et al. Curr Genomics, 2015 Oct. PMID 27047251, Free PMC Article

    See all (157) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mbl protein controls Dscam2 alternative splicing. Mbl represses Dscam2 isoform A and promotes the selection of isoform B.
      Title: Deterministic splicing of Dscam2 is regulated by Muscleblind.
    2. These results demonstrate the relevance of Mbl sequestration caused by expanded-CUG-repeat RNA in cardiac dysfunctions in Myotonic dystrophy type 1.
      Title: Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy.
    3. Data show that two miRNAs, dme-miR-277 and dme-miR-304, that differentially regulate muscleblind RNA isoforms
      Title: Derepressing muscleblind expression by miRNA sponges ameliorates myotonic dystrophy-like phenotypes in Drosophila.
    4. Epistasis studies showed that Mbl silencing was sufficient to induce a subcellular redistribution of TBPH and BSF proteins in the muscle, which mimicked the effect of i(CTG)480 expression.
      Title: Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model.
    5. Drosophila muscleblind codes for proteins with one and two tandem zinc finger motifs
      Title: Drosophila muscleblind codes for proteins with one and two tandem zinc finger motifs.
    6. This study suggested that the mbl gene function is required for the normal development of neural substrates that regulate female sexual receptivity.
      Title: Genetic analysis of chaste, a new mutation of Drosophila melanogaster characterized by extremely low female sexual receptivity.
    7. Mbl recognizes complex RNA secondary structures.
      Title: RNA binding specificity of Drosophila muscleblind.
    Submit: New GeneRIF Correction

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    mobile_element

    • Loc: 17236564-17241709 mobile_element_type = transposon:copia{}840
    • Loc: 17277272-17277615 mobile_element_type = transposon:jockey{}841

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in compound eye photoreceptor cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in eye development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in muscle cell cellular homeostasis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in muscle cell cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of alternative mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of female receptivity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of female receptivity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in rhabdomere development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in H zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    muscleblind
    Names
    BG01127
    CG33197-PA
    CG33197-PB
    CG33197-PD
    CG33197-PH
    CG33197-PJ
    CG33197-PK
    CG33197-PM
    CG33197-PN
    CG33197-PO
    CG33197-PP
    CG33197-PR
    CG33197-PS
    CG33197-PT
    CG33197-PU
    CG33197-PV
    CG33197-PW
    CG33197-PX
    CG33197-PY
    CG33197-PZ
    MUSCLEBLIND
    chaste
    mbl-PA
    mbl-PB
    mbl-PD
    mbl-PH
    mbl-PJ
    mbl-PK
    mbl-PM
    mbl-PN
    mbl-PO
    mbl-PP
    mbl-PR
    mbl-PS
    mbl-PT
    mbl-PU
    mbl-PV
    mbl-PW
    mbl-PX
    mbl-PY
    mbl-PZ
    mindmelt

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NT_033778.4 Reference assembly

      Range
      17216549..17379376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001274115.1 → NP_001261044.1  muscleblind, isoform P [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001261044.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0B4KG51

    2. NM_001414081.1 → NP_001401011.1  muscleblind, isoform U [Drosophila melanogaster]

      Status: REVIEWED

    3. NM_176210.2 → NP_788390.1  muscleblind, isoform D [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_788390.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      O16011
      Related
      FBpp0086146

    4. NM_001274114.1 → NP_001261043.1  muscleblind, isoform O [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001261043.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0B4KF98

    5. NM_001144217.2 → NP_001137689.2  muscleblind, isoform N [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001137689.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      B7YZI9

    6. NM_001274117.1 → NP_001261046.1  muscleblind, isoform R [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001261046.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      I7AEJ0, I7BCJ6
      Conserved Domains (1) summary
      smart00356
      Location:175 → 201
      ZnF_C3H1; zinc finger

    7. NM_001274119.1 → NP_001261048.1  muscleblind, isoform T [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001261048.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0B4KFA2, I7AEJ0
      Conserved Domains (1) summary
      smart00356
      Location:175 → 201
      ZnF_C3H1; zinc finger

    8. NM_001274118.1 → NP_001261047.1  muscleblind, isoform S [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001261047.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0B4KET3, I7AEJ0
      Conserved Domains (1) summary
      smart00356
      Location:175 → 201
      ZnF_C3H1; zinc finger

    9. NM_001259464.2 → NP_001246393.1  muscleblind, isoform K [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001246393.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0B4K835, I7BCJ2

    10. NM_001144216.3 → NP_001137688.2  muscleblind, isoform J [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001137688.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      B7YZJ0, I7BCJ2

    11. NM_001259462.2 → NP_001246391.1  muscleblind, isoform H [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001246391.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0B4K7U4, I7AEJ0
      Conserved Domains (1) summary
      smart00356
      Location:175 → 201
      ZnF_C3H1; zinc finger

    12. NM_001259466.2 → NP_001246395.1  muscleblind, isoform M [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001246395.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0B4K782, I7BCJ2

    13. NM_176211.2 → NP_788391.1  muscleblind, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_788391.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      O16008, O16009, O16010, O16011, Q86BE8, Q9V803, Q9V804
      Related
      FBpp0086144

    14. NM_176212.2 → NP_788392.1  muscleblind, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_788392.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      L7Z877
      Related
      FBpp0086143

    15. NM_001426710.1 → NP_001413638.1  muscleblind, isoform Z [Drosophila melanogaster]

      Status: REVIEWED

    16. NM_001414085.1 → NP_001401015.1  muscleblind, isoform Y [Drosophila melanogaster]

      Status: REVIEWED

    17. NM_001414083.1 → NP_001401013.1  muscleblind, isoform W [Drosophila melanogaster]

      Status: REVIEWED

    18. NM_001414084.1 → NP_001401014.1  muscleblind, isoform X [Drosophila melanogaster]

      Status: REVIEWED

      UniProtKB/TrEMBL
      L7Z877

    19. NM_001414082.1 → NP_001401012.1  muscleblind, isoform V [Drosophila melanogaster]

      Status: REVIEWED

      UniProtKB/TrEMBL
      A8E779, N0A2M8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A0B4K782 A0A0B4K782
    A0A0B4K7U4 A0A0B4K7U4
    A0A0B4K835 A0A0B4K835
    A0A0B4KET3 A0A0B4KET3
    A0A0B4KF98 A0A0B4KF98
    A0A0B4KFA2 A0A0B4KFA2
    A0A0B4KG51 A0A0B4KG51
    B7YZI9 B7YZI9
    B7YZJ0 B7YZJ0
    I7BCJ6 I7BCJ6
    O16011.2 O16011

    Gene LinkOut

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