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    Frg1 FSHD region gene 1 [ Mus musculus (house mouse) ]

    Gene ID: 14300, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Frg1provided by MGI
    Official Full Name
    FSHD region gene 1provided by MGI
    Primary source
    MGI:MGI:893597
    See related
    Ensembl:ENSMUSG00000031590 AllianceGenome:MGI:893597
    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
    Summary
    Predicted to enable actin filament binding activity. Predicted to be involved in RNA processing and muscle organ development. Predicted to be located in Cajal body and Z disc. Predicted to be part of catalytic step 2 spliceosome. Predicted to be active in nucleolus and striated muscle dense body. Is expressed in several structures, including 1st branchial arch mandibular component; alimentary system; genitourinary system; liver; and spleen. Orthologous to human FRG1 (FSHD region gene 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 2.3), placenta adult (RPKM 1.6) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Frg1 in Genome Data Viewer
    Location:
    8 A4; 8 23.89 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (41842218..41870179, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (41389181..41417138, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_21288 Neighboring gene predicted gene 16348 Neighboring gene pericentriolar material 1 Neighboring gene STARR-seq mESC enhancer starr_21289 Neighboring gene N-acylsphingosine amidohydrolase 1 Neighboring gene STARR-seq mESC enhancer starr_21290 Neighboring gene STARR-positive B cell enhancer ABC_E1364 Neighboring gene STARR-seq mESC enhancer starr_21291 Neighboring gene predicted gene, 50494 Neighboring gene STARR-seq mESC enhancer starr_21293 Neighboring gene STARR-seq mESC enhancer starr_21294 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase, pseudogene 14

    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. Overexpression of facioscapulohumeral muscular dystrophy region gene 1 causes primary defects in myogenic stem cells. Xynos A, et al. J Cell Sci, 2013 May 15. PMID 23525014
    2. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Gabellini D, et al. Nature, 2006 Feb 23. PMID 16341202
    3. Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1). Sancisi V, et al. Am J Physiol Regul Integr Comp Physiol, 2014 Jan 15. PMID 24305066, Free PMC Article
    4. Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) expression and possible function in mouse tooth germ development. Hasegawa K, et al. J Mol Histol, 2016 Aug. PMID 27234941
    5. Direct interplay between two candidate genes in FSHD muscular dystrophy. Ferri G, et al. Hum Mol Genet, 2015 Mar 1. PMID 25326393, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FRG1 is involved in the morphogenesis of the tooth germ, as well as in the formation of enamel and dentin matrices and that FRG1 may play a role in the odontogenesis in the mouse following BMP4 stimulation.
      Title: Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) expression and possible function in mouse tooth germ development.
    2. Mouse Frg1 genomic area lacks DUX4 binding sites and DUX4 is unable to activate the endogenous mouse Frg1 gene providing a possible explanation for the lack of muscle phenotype in DUX4 transgenic mice.
      Title: Direct interplay between two candidate genes in FSHD muscular dystrophy.
    3. This study suggests a novel role of FRG1 as epigenetic regulator of muscle differentiation and indicates that Suv4-20h1 has a gene-specific function in myogenesis.
      Title: FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis.
    4. On the basis of these results, it was proposed that aberrant fTnT represents a biological marker of muscle phenotype severity and disease progression.
      Title: Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1).
    5. transgenic overexpression results in a muscle-growth defect and a muscle regeneration impairment
      Title: Overexpression of facioscapulohumeral muscular dystrophy region gene 1 causes primary defects in myogenic stem cells.
    6. our results suggest that a component of FSHD pathogenesis may arise by over-expression of FRG1, reducing Rbfox1 levels and leading to aberrant expression of an altered Calpain 3 protein through dysregulated splicing
      Title: Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (1) 

    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 RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in rRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Cajal body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catalytic step 2 spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of spliceosomal complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in striated muscle dense body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein FRG1
    Names
    FSHD region gene 1 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_013522.3 → NP_038550.2  protein FRG1

      See identical proteins and their annotated locations for NP_038550.2

      Status: VALIDATED

      Source sequence(s)
      AK077107, BE334154, BE655768
      Consensus CDS
      CCDS22263.1
      UniProtKB/Swiss-Prot
      P97376, Q99M42
      UniProtKB/TrEMBL
      Q3V3M3, Q78P92
      Related
      ENSMUSP00000033999.7, ENSMUST00000033999.8
      Conserved Domains (1) summary
      pfam06229
      Location:67 → 256
      FRG1; FRG1-like 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_000074.7 Reference GRCm39 C57BL/6J

      Range
      41842218..41870179 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017312570.3 → XP_017168059.1  protein FRG1 isoform X1

      UniProtKB/Swiss-Prot
      P97376, Q99M42
      UniProtKB/TrEMBL
      Q3V3M3, Q78P92
      Conserved Domains (1) summary
      pfam06229
      Location:67 → 256
      FRG1; FRG1-like domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P97376.2 GenPept UniProtKB/Swiss-Prot:P97376

    Gene LinkOut

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

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