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mbl muscleblind [ Drosophila melanogaster (fruit fly) ]

Gene ID: 36945, updated on 4-Jan-2025

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 brain; imaginal disc; somatic muscle; 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, Jan 2025]
Orthologs
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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

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