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    Msc musculin [ Mus musculus (house mouse) ]

    Gene ID: 17681, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mscprovided by MGI
    Official Full Name
    musculinprovided by MGI
    Primary source
    MGI:MGI:1333884
    See related
    Ensembl:ENSMUSG00000025930 AllianceGenome:MGI:1333884
    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
    MyoR; bHLHa22
    Summary
    Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II; roof of mouth development; and skeletal muscle organ development. Acts upstream of or within cellular response to leukemia inhibitory factor. Located in nucleus. Is expressed in several structures, including embryo mesenchyme; ganglia; immune system; limb bud; and musculature. Orthologous to human MSC (musculin). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in limb E14.5 (RPKM 10.5), mammary gland adult (RPKM 6.5) and 16 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Msc in Genome Data Viewer
    Location:
    1 A3; 1 4.5 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (14823570..14826216, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (14753344..14756089, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene EYA transcriptional coactivator and phosphatase 1 Neighboring gene STARR-seq mESC enhancer starr_00298 Neighboring gene STARR-seq mESC enhancer starr_00300 Neighboring gene STARR-seq mESC enhancer starr_00301 Neighboring gene STARR-seq mESC enhancer starr_00302 Neighboring gene STARR-seq mESC enhancer starr_00303 Neighboring gene STARR-seq mESC enhancer starr_00305 Neighboring gene STARR-seq mESC enhancer starr_00306 Neighboring gene adaptor-related protein complex 2, beta 1 subunit pseudogene Neighboring gene STARR-seq mESC enhancer starr_00307 Neighboring gene STARR-seq mESC enhancer starr_00308 Neighboring gene STARR-seq mESC enhancer starr_00309 Neighboring gene STARR-seq mESC enhancer starr_00311 Neighboring gene predicted gene 9947 Neighboring gene STARR-seq mESC enhancer starr_00312 Neighboring gene STARR-seq mESC enhancer starr_00313 Neighboring gene SMT3 suppressor of mif two 3 homolog 2, pseudogene 4 (S. cerevisiae) Neighboring gene ribosomal protein L5, pseudogene 1

    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. Musculin/MyoR is expressed in kidney side population cells and can regulate their function. Hishikawa K, et al. J Cell Biol, 2005 Jun 20. PMID 15967813, Free PMC Article
    2. Musculin does not modulate the disease course of Experimental Autoimmune Encephalomyelitis and DSS colitis. Vanni A, et al. Immunol Lett, 2023 Mar. PMID 36848960
    3. Musculin Deficiency Aggravates Colonic Injury and Inflammation in Mice with Inflammatory Bowel Disease. Yu J, et al. Inflammation, 2020 Aug. PMID 32239394
    4. The bHLH protein MyoR inhibits the differentiation of early embryonic endoderm. Yu L, et al. Differentiation, 2004 Sep. PMID 15554945
    5. Basic helix-loop-helix transcriptional factor MyoR regulates BMP-7 in acute kidney injury. Kamiura N, et al. Am J Physiol Renal Physiol, 2013 May 1. PMID 23515721

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Musculin does not modulate the disease course of Experimental Autoimmune Encephalomyelitis and DSS colitis.
      Title: Musculin does not modulate the disease course of Experimental Autoimmune Encephalomyelitis and DSS colitis.
    2. Musculin Deficiency Aggravates Colonic Injury and Inflammation in Mice with Inflammatory Bowel Disease.
      Title: Musculin Deficiency Aggravates Colonic Injury and Inflammation in Mice with Inflammatory Bowel Disease.
    3. this study shows that MSC-deficient TGFb-induced Treg cells are unable to suppress Th2 cell responses, and that MSC-deficient mice spontaneously develop gut and lung inflammation with age
      Title: The transcription factor musculin promotes the unidirectional development of peripheral T(reg) cells by suppressing the T(H)2 transcriptional program.
    4. MyoR modulates cardiac conduction by repressing Gata4.
      Title: MyoR modulates cardiac conduction by repressing Gata4.
    5. MyoR is a transcription factor selectively up-regulated in CD4 T cells during Tfh cell differentiation
      Title: Myor/ABF-1 mRNA [corrected] Expression Marks Follicular Helper T Cells but Is Dispensable for Tfh Cell Differentiation and Function In Vivo.
    6. results demonstrate that ABF-1 facilitates formation of memory B cells but prevents plasma cell differentiation.
      Title: Transcription factor ABF-1 suppresses plasma cell differentiation but facilitates memory B cell formation.
    7. Basic helix-loop-helix transcriptional factor MyoR regulates BMP-7 in acute kidney injury.
      Title: Basic helix-loop-helix transcriptional factor MyoR regulates BMP-7 in acute kidney injury.
    8. Data show that correct levels of expression of Myf5 and MyoD during mouse craniofacial development result from activation by musculin and TCF21 through direct binding to specific enhancers.
      Title: Musculin and TCF21 coordinate the maintenance of myogenic regulatory factor expression levels during mouse craniofacial development.
    9. a feed-forward loop where MyoD indirectly down-regulates MyoR via miR-378
      Title: MicroRNA-378 targets the myogenic repressor MyoR during myoblast differentiation.
    10. Musclin binds to NPR3 competitively with ANP and may affect ANP concentrations in a local or systemic manner.
      Title: Competitive binding of musclin to natriuretic peptide receptor 3 with atrial natriuretic peptide.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in branchiomeric skeletal muscle development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within cellular response to leukemia inhibitory factor IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in diaphragm development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in roof of mouth development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in skeletal muscle tissue development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    musculin
    Names
    myogenic repressor

    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_001360810.2 → NP_001347739.1  musculin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC115876
      Conserved Domains (1) summary
      smart00353
      Location:108 → 160
      HLH; helix loop helix domain

    2. NM_001411711.1 → NP_001398640.1  musculin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC115876

    3. NM_001411712.1 → NP_001398641.1  musculin isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC115876

    4. NM_001411713.1 → NP_001398642.1  musculin isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC115876
      UniProtKB/TrEMBL
      Q3UU13

    5. NM_010827.3 → NP_034957.1  musculin isoform 1

      See identical proteins and their annotated locations for NP_034957.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC115876
      Consensus CDS
      CCDS14825.1
      UniProtKB/Swiss-Prot
      O88940, Q3ZAZ1
      Related
      ENSMUSP00000027062.6, ENSMUST00000027062.7
      Conserved Domains (1) summary
      smart00353
      Location:108 → 160
      HLH; helix loop helix domain

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      14823570..14826216 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O88940.1 GenPept UniProtKB/Swiss-Prot:O88940

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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