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

Gene ID: 171170, updated on 11-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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