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    Mymx myomixer, myoblast fusion factor [ Mus musculus (house mouse) ]

    Gene ID: 653016, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Mymxprovided by MGI
    Official Full Name
    myomixer, myoblast fusion factorprovided by MGI
    Primary source
    MGI:MGI:3649059
    See related
    Ensembl:ENSMUSG00000079471 AllianceGenome:MGI:3649059
    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
    Esgp; Gm7325; minion; EG653016; myomerger
    Summary
    Involved in myoblast fusion involved in skeletal muscle regeneration; plasma membrane fusion; and skeletal muscle organ development. Located in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. Is expressed in diaphragm; foregut; limb; skeletal musculature; and tail paraxial mesenchyme. Human ortholog(s) of this gene implicated in Carey-Fineman-Ziter syndrome. Orthologous to human MYMX (myomixer, myoblast fusion factor). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in limb E14.5 (RPKM 9.7), kidney adult (RPKM 1.1) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mymx in Genome Data Viewer
    Location:
    17 C; 17 22.59 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (45911887..45913122, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (45600961..45602196, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9954 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:45710735-45710975 Neighboring gene STARR-positive B cell enhancer ABC_E10955 Neighboring gene predicted gene, 35399 Neighboring gene STARR-positive B cell enhancer ABC_E8678 Neighboring gene solute carrier family 29 (nucleoside transporters), member 1 Neighboring gene STARR-seq mESC enhancer starr_42635 Neighboring gene STARR-seq mESC enhancer starr_42636 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:45756550-45756733 Neighboring gene predicted gene, 52283 Neighboring gene predicted gene, 25008 Neighboring gene STARR-positive B cell enhancer ABC_E9955 Neighboring gene STARR-positive B cell enhancer ABC_E10956 Neighboring gene calpain 11 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:45775877-45776144

    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 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. Myomerger promotes fusion pore by elastic coupling between proximal membrane leaflets and hemifusion diaphragm. Golani G, et al. Nat Commun, 2021 Jan 21. PMID 33479215, Free PMC Article
    2. Molecular cloning and functional analysis of ESGP, an embryonic stem cell and germ cell specific protein. Chen YM, et al. Acta Biochim Biophys Sin (Shanghai), 2005 Dec. PMID 16331322
    3. Gm7325 is MyoD-dependently expressed in activated muscle satellite cells. Takei D, et al. Biomed Res, 2017. PMID 28637957
    4. Fusogenic micropeptide Myomixer is essential for satellite cell fusion and muscle regeneration. Bi P, et al. Proc Natl Acad Sci U S A, 2018 Apr 10. PMID 29581287, Free PMC Article
    5. IL-4 Signaling Promotes Myoblast Differentiation and Fusion by Enhancing the Expression of MyoD, Myogenin, and Myomerger. Kurosaka M, et al. Cells, 2023 Apr 29. PMID 37174683, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. IL-4 Signaling Promotes Myoblast Differentiation and Fusion by Enhancing the Expression of MyoD, Myogenin, and Myomerger.
      Title: IL-4 Signaling Promotes Myoblast Differentiation and Fusion by Enhancing the Expression of MyoD, Myogenin, and Myomerger.
    2. Myomerger promotes fusion pore by elastic coupling between proximal membrane leaflets and hemifusion diaphragm.
      Title: Myomerger promotes fusion pore by elastic coupling between proximal membrane leaflets and hemifusion diaphragm.
    3. myomerger is a fundamental myoblast fusion protein with roles in skeletal muscle development
      Title: Myomerger induces fusion of non-fusogenic cells and is required for skeletal muscle development.
    4. Minion is a novel microprotein required for muscle development
      Title: The microprotein Minion controls cell fusion and muscle formation.
    5. Genetic deletion of Myomixer in satellite cells abolishes satellite cell fusion and prevents muscle regeneration, resulting in severe muscle degeneration after injury.
      Title: Fusogenic micropeptide Myomixer is essential for satellite cell fusion and muscle regeneration.
    6. Gm7325, as a novel MyoD-target gene, is specifically induced in activated satellite cells, and may have an important role in skeletal myogenesis.
      Title: Gm7325 is MyoD-dependently expressed in activated muscle satellite cells.
    7. the Myomixer-Myomaker pair controls the critical step in myofiber formation during muscle development.
      Title: Control of muscle formation by the fusogenic micropeptide myomixer.
    8. The expression of ESGP is consistent with the expression of Oct-4 during embryonic development.Forced expression of ESGP is not indispensable for the effect of Oct-4 on ES cell self-renewal, and does not affect the differentiation to three germ layers.
      Title: Molecular cloning and functional analysis of ESGP, an embryonic stem cell and germ cell specific protein.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in myoblast fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in myoblast fusion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in myoblast fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in myoblast fusion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in myoblast fusion involved in skeletal muscle regeneration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in myoblast fusion involved in skeletal muscle regeneration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in myoblast fusion involved in skeletal muscle regeneration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in plasma membrane fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in plasma membrane fusion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in skeletal muscle organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in skeletal muscle tissue regeneration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein myomixer
    Names
    embryonic stem cell- and germ cell-specific protein
    microprotein inducer of fusion
    protein minion
    protein myomerger

    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_001177468.1 → NP_001170939.1  protein myomixer isoform 1

      See identical proteins and their annotated locations for NP_001170939.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      BB399187, CJ191178, W70601
      Consensus CDS
      CCDS50119.1
      UniProtKB/Swiss-Prot
      E9PXI1, Q2Q5T5
      UniProtKB/TrEMBL
      A0A223PZC0
      Related
      ENSMUSP00000137630.2, ENSMUST00000178858.3
      Conserved Domains (1) summary
      cd20278
      Location:20 → 64
      Minion; Microprotein INducer of fusION (Minion)

    2. NM_001177469.1 → NP_001170940.1  protein myomixer isoform 1

      See identical proteins and their annotated locations for NP_001170940.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate donor splice site at 5' non-coding exon compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC163677, BB399187, CJ191178, W70601
      Consensus CDS
      CCDS50119.1
      UniProtKB/Swiss-Prot
      E9PXI1, Q2Q5T5
      UniProtKB/TrEMBL
      A0A223PZC0
      Related
      ENSMUSP00000109157.3, ENSMUST00000113529.4
      Conserved Domains (1) summary
      cd20278
      Location:20 → 64
      Minion; Microprotein INducer of fusION (Minion)

    3. NM_001177470.1 → NP_001170941.1  protein myomixer isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon compared to variant 1, resulting in translation initiation from an in-frame upstream AUG and a longer isoform (2) with a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      BB399187, CJ043848, CJ062905, CJ191178
      Consensus CDS
      CCDS50120.1
      UniProtKB/Swiss-Prot
      Q2Q5T5
      Related
      ENSMUSP00000126690.2, ENSMUST00000169137.3

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      45911887..45913122 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524789.3 → XP_006524852.1  protein myomixer isoform X1

      See identical proteins and their annotated locations for XP_006524852.1

      UniProtKB/Swiss-Prot
      E9PXI1, Q2Q5T5
      UniProtKB/TrEMBL
      A0A223PZC0
      Conserved Domains (1) summary
      cd20278
      Location:20 → 64
      Minion; Microprotein INducer of fusION (Minion)

    2. XM_006524790.1 → XP_006524853.1  protein myomixer isoform X1

      See identical proteins and their annotated locations for XP_006524853.1

      UniProtKB/Swiss-Prot
      E9PXI1, Q2Q5T5
      UniProtKB/TrEMBL
      A0A223PZC0
      Related
      ENSMUSP00000146823.2, ENSMUST00000208801.2
      Conserved Domains (1) summary
      cd20278
      Location:20 → 64
      Minion; Microprotein INducer of fusION (Minion)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2Q5T5.1 GenPept UniProtKB/Swiss-Prot:Q2Q5T5

    Gene LinkOut

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

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