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    Mbnl3 muscleblind like splicing factor 3 [ Mus musculus (house mouse) ]

    Gene ID: 171170, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Mbnl3provided by MGI
    Official Full Name
    muscleblind like splicing factor 3provided by MGI
    Primary source
    MGI:MGI:2444912
    See related
    Ensembl:ENSMUSG00000036109 AllianceGenome:MGI:2444912
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CHCR; MBLX; MBXL; MBLX39; A530038J18Rik; E430034C16Rik
    Summary
    Predicted to enable RNA binding activity. Acts upstream of or within negative regulation of myoblast differentiation. Predicted to be located in nucleus. Predicted to be active in cytoplasm and nucleoplasm. Is expressed in several structures, including 1st branchial arch; early conceptus; genitourinary system; hemolymphoid system gland; and sensory organ. Orthologous to human MBNL3 (muscleblind like splicing regulator 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in placenta adult (RPKM 12.8), genital fat pad adult (RPKM 8.0) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    X A5; X 28.03 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (50202371..50294867, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (51113494..51205990, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene 40S ribosomal protein S29 pseudogene Neighboring gene STARR-seq mESC enhancer starr_47161 Neighboring gene ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 pseudogene Neighboring gene basic transcription factor 3, pseudogene 10 Neighboring gene actin, gamma, cytoplasmic 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy. Choi J, et al. Sci Rep, 2016 Aug 3. PMID 27484195, Free PMC Article
    2. Monoclonal antibodies against Muscleblind-like 3, a protein with punctate nuclear localization. Lee KS, et al. Hybridoma (Larchmt), 2011 Apr. PMID 21529292, Free PMC Article
    3. MiR674 inhibits the neuraminidase-stimulated immune response on dendritic cells via down-regulated Mbnl3. Lin J, et al. Oncotarget, 2016 Aug 2. PMID 27285980, Free PMC Article
    4. MBNL3/CHCR prevents myogenic differentiation by inhibiting MyoD-dependent gene transcription. Lee KS, et al. Differentiation, 2008 Mar. PMID 17697127
    5. Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood. Sznajder ŁJ, et al. Nat Commun, 2020 Apr 24. PMID 32332745, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of Mbnl3 expression is associated with myotonic dystrophy.
      Title: Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy.
    2. by inhibiting the expression of miR-674 and miR-155, H9N2 avian influenza virus neuraminidase lost the ability to promote dendritic cell maturation
      Title: MiR674 inhibits the neuraminidase-stimulated immune response on dendritic cells via down-regulated Mbnl3.
    3. Data show that Muscleblind-like 1 (Mbnl1) and Muscleblind-Like 3 (Mbnl3) bind skeletal muscle chloride channel CIC-1 (Clc-1) mRNA.
      Title: Muscleblind-Like 1 and Muscleblind-Like 3 Depletion Synergistically Enhances Myotonia by Altering Clc-1 RNA Translation.
    4. depletion of Mbnl proteins in mouse embryo fibroblasts leads to misregulation of thousands of alternative polyadenylation events.
      Title: Loss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease.
    5. study reports Mbnl3, which encodes protein isoforms that differ in the number of tandem zinc-finger RNA-binding motifs and subcellular localization, is expressed primarily during embryonic development but also transiently during injury-induced adult skeletal muscle regeneration
      Title: Progressive impairment of muscle regeneration in muscleblind-like 3 isoform knockout mice.
    6. Punctate localization pattern of MBNL3 within interchromatin regions of the nucleus is highly predictive of proteins involved in pre-mRNA processing.
      Title: Monoclonal antibodies against Muscleblind-like 3, a protein with punctate nuclear localization.
    7. RNA-binding protein Muscleblind-like 3 (MBNL3) disrupts myocyte enhancer factor 2 (Mef2) {beta}-exon splicing
      Title: RNA-binding protein Muscleblind-like 3 (MBNL3) disrupts myocyte enhancer factor 2 (Mef2) {beta}-exon splicing.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2)  1 citation
    • Endonuclease-mediated (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    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
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within negative regulation of myoblast differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of RNA splicing ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    muscleblind-like protein 3
    Names
    cys3His CCG1-required protein
    muscleblind-like 3
    muscleblind-like X-linked protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001310515.1 → NP_001297444.1  muscleblind-like protein 3 isoform 2

      See identical proteins and their annotated locations for NP_001297444.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK040522, AL671848, AL844490
      Consensus CDS
      CCDS81126.1
      UniProtKB/TrEMBL
      Q3TJQ3, Q8BKS0
      Related
      ENSMUSP00000110525.2, ENSMUST00000114875.8
      Conserved Domains (1) summary
      smart00356
      Location:80 → 104
      ZnF_C3H1; zinc finger

    2. NM_134163.5 → NP_598924.1  muscleblind-like protein 3 isoform 1

      See identical proteins and their annotated locations for NP_598924.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK040522, AL671848, AL844490
      Consensus CDS
      CCDS40969.1
      UniProtKB/Swiss-Prot
      Q8R003
      UniProtKB/TrEMBL
      Q542D8, S4R267
      Related
      ENSMUSP00000110526.3, ENSMUST00000114876.9
      Conserved Domains (1) summary
      smart00356
      Location:176 → 200
      ZnF_C3H1; zinc finger

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      50202371..50294867 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006541435.1 → XP_006541498.1  muscleblind-like protein 3 isoform X1

      See identical proteins and their annotated locations for XP_006541498.1

      UniProtKB/TrEMBL
      S4R267
      Conserved Domains (1) summary
      smart00356
      Location:176 → 200
      ZnF_C3H1; zinc finger

    2. XM_011250980.3 → XP_011249282.1  muscleblind-like protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011249282.1

      UniProtKB/TrEMBL
      S4R267
      Related
      ENSMUSP00000138520.2, ENSMUST00000136404.3
      Conserved Domains (1) summary
      smart00356
      Location:176 → 200
      ZnF_C3H1; zinc finger

    3. XM_006541442.1 → XP_006541505.1  muscleblind-like protein 3 isoform X5

      See identical proteins and their annotated locations for XP_006541505.1

      UniProtKB/TrEMBL
      Q8BKS0
      Conserved Domains (1) summary
      smart00356
      Location:80 → 104
      ZnF_C3H1; zinc finger

    4. XM_006541437.3 → XP_006541500.1  muscleblind-like protein 3 isoform X1

      See identical proteins and their annotated locations for XP_006541500.1

      UniProtKB/TrEMBL
      S4R267
      Conserved Domains (1) summary
      smart00356
      Location:176 → 200
      ZnF_C3H1; zinc finger

    5. XM_006541436.5 → XP_006541499.1  muscleblind-like protein 3 isoform X1

      See identical proteins and their annotated locations for XP_006541499.1

      UniProtKB/TrEMBL
      S4R267
      Conserved Domains (1) summary
      smart00356
      Location:176 → 200
      ZnF_C3H1; zinc finger

    6. XM_006541440.5 → XP_006541503.1  muscleblind-like protein 3 isoform X5

      See identical proteins and their annotated locations for XP_006541503.1

      UniProtKB/TrEMBL
      Q8BKS0
      Conserved Domains (1) summary
      smart00356
      Location:80 → 104
      ZnF_C3H1; zinc finger

    7. XM_030251236.2 → XP_030107096.1  muscleblind-like protein 3 isoform X2

      UniProtKB/Swiss-Prot
      Q8R003
      UniProtKB/TrEMBL
      Q542D8, S4R267
      Conserved Domains (1) summary
      smart00356
      Location:176 → 200
      ZnF_C3H1; zinc finger

    8. XM_006541439.3 → XP_006541502.1  muscleblind-like protein 3 isoform X4

      UniProtKB/TrEMBL
      Q8BKS0
      Conserved Domains (1) summary
      smart00356
      Location:136 → 160
      ZnF_C3H1; zinc finger

    9. XM_006541438.2 → XP_006541501.1  muscleblind-like protein 3 isoform X3

      UniProtKB/TrEMBL
      Q8BKS0
      Conserved Domains (1) summary
      smart00356
      Location:136 → 160
      ZnF_C3H1; zinc finger

    10. XM_006541441.3 → XP_006541504.1  muscleblind-like protein 3 isoform X5

      See identical proteins and their annotated locations for XP_006541504.1

      UniProtKB/TrEMBL
      Q8BKS0
      Conserved Domains (1) summary
      smart00356
      Location:80 → 104
      ZnF_C3H1; zinc finger

    11. XM_011250981.2 → XP_011249283.1  muscleblind-like protein 3 isoform X5

      See identical proteins and their annotated locations for XP_011249283.1

      UniProtKB/TrEMBL
      Q8BKS0
      Conserved Domains (1) summary
      smart00356
      Location:80 → 104
      ZnF_C3H1; zinc finger
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R003.1 GenPept UniProtKB/Swiss-Prot:Q8R003

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