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Msc musculin [ Mus musculus (house mouse) ]

Gene ID: 17681, updated on 5-Mar-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 branchial arch; foregut; limb bud; musculature; and trunk mesenchyme. Orthologous to human MSC (musculin). [provided by Alliance of Genome Resources, Apr 2022]
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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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 does not modulate the disease course of Experimental Autoimmune Encephalomyelitis and DSS colitis. Vanni A, et al. Immunol Lett, 2023 Mar. PMID 36848960
  2. Musculin Deficiency Aggravates Colonic Injury and Inflammation in Mice with Inflammatory Bowel Disease. Yu J, et al. Inflammation, 2020 Aug. PMID 32239394
  3. 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
  4. 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
  5. The bHLH protein MyoR inhibits the differentiation of early embryonic endoderm. Yu L, et al. Differentiation, 2004 Sep. PMID 15554945

See all (47) 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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General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
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 cis-regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
  
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 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

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