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FLASH GENE
Symbol FRG1 contributors: mct - updated : 12-04-2016
HGNC name FSHD region gene 1
HGNC id 3954
Location 4q35.2      Physical location : 190.861.973 - 190.884.358
Synonym name
  • facioscapulohumeral muscular dystrophy region gene-1
    • Synonym symbol(s) FSG1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text with multiple copies resulting from ancestral duplication, dispersed throughout the genome
    STRUCTURE 22.39 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   enhancer
    text structure
  • FRG1 promoter in both normal and FSHMD1A myoblasts was characterized by H3K27 trimethylation and Polycomb repressor complex binding
    • MAPPING cloned Y linked   status provisional
    Map see FSHMD1A
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1053 - 258 - 2004 15060122
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselartery  highly Homo sapiens
     vesselcapillary  highly Homo sapiens
     vesselvein    Homo sapiens
    Nervousbrain   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Muscularsmoothvessel   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    cell cycle     cell cycle
    Text brain, muscle, placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		highly conserved protein containing a lipocalin motif
    HOMOLOGY
    interspecies ortholog to murine Frg1
    Homologene
    FAMILY FRG1 family
    CATEGORY transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,nucleolus
    text
  • showed distinct nuclear and cytoplasmic localizations
    • basic FUNCTION
  • may have a role in processing of pre-rRNA or in the assembly of rRNA into ribosomal subunits
  • is an F-actin-bundling protein
  • role for FRG1 overexpression in FSHMD1A pathophysiology and reveal the previously unsuspected direct involvement of FRG1 in muscle structure and integrity
  • not likely involved in the initial assembly and alignment of the Z-disc but may be involved in sarcomere maintenance or signaling
  • is also a developmentally regulated sarcomeric protein suggesting FRG1 may perform a muscle-specific function
  • is involved in multiple aspects of RNA biogenesis, including mRNA transport and, potentially, cytoplasmic mRNA localization
  • plays a relevant role in muscle biology
  • novel role of FRG1 as epigenetic regulator of muscle differentiation, indicating that SUV420H1 has a gene-specific function in myogenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • prematurely expressed during FSHMD1A myoblast differentiation, thus suggesting that the number of D4Z4 repeats in the array may affect the correct timing of FRG1 expression
  • when over-expressed, FRG1 binds and interferes with the activity of the histone methyltransferase KMT5B
  • FRG1/KMT5B target EID3 as a novel myogenic inhibitor that contributes to the muscle differentiation defects
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in muscle of FSH myopathy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Frg1-transgenic mouse displays muscle dysfunction and atrophy reminiscent of fascioscapulohumeral muscular dystrophy (FSHD) and could provide a model to determine potential therapeutic interventions
  • overexpression of Frg1 in mice, frogs and worms leads to muscular and vascular abnormalities
  • in Frg1-overexpressing mice, fast muscles, which are the most affected by the dystrophic process, display anomalous Tnnt3 isoform, resulting from the aberrant splicing of the Tnnt3 mRNA that precedes the appearance of dystrophic signs