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Aliases for FRG1 Gene

Aliases for FRG1 Gene

  • FSHD Region Gene 1 2 3 5
  • FSHD Region Gene 1 Protein 3 4
  • Facioscapulohumeral Muscular Dystrophy Region Gene-1 3
  • FRG1A 3
  • FSG1 3

External Ids for FRG1 Gene

Previous GeneCards Identifiers for FRG1 Gene

  • GC04P191891
  • GC04P191510
  • GC04P191446
  • GC04P191557
  • GC04P191237
  • GC04P191098
  • GC04P190861
  • GC04P186602

Summaries for FRG1 Gene

Entrez Gene Summary for FRG1 Gene

  • This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]

GeneCards Summary for FRG1 Gene

FRG1 (FSHD Region Gene 1) is a Protein Coding gene. Diseases associated with FRG1 include facioscapulohumeral muscular dystrophy 1 and suppurative lymphadenitis. GO annotations related to this gene include poly(A) RNA binding and actin filament binding. An important paralog of this gene is ENSG00000273748.

UniProtKB/Swiss-Prot for FRG1 Gene

  • Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase KMT5B.

Gene Wiki entry for FRG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRG1 Gene

Genomics for FRG1 Gene

Regulatory Elements for FRG1 Gene

Promoters for FRG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FRG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FRG1 Gene

189,940,788 bp from pter
189,963,204 bp from pter
22,417 bases
Plus strand

Genomic View for FRG1 Gene

Genes around FRG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRG1 Gene

Proteins for FRG1 Gene

  • Protein details for FRG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FRG1
    Protein Accession:
    Secondary Accessions:
    • A8K775

    Protein attributes for FRG1 Gene

    258 amino acids
    Molecular mass:
    29172 Da
    Quaternary structure:
    • Homodimer and homotetramer in solution. Identified in the spliceosome C complex. Interacts with KMT5B (via C-terminus). Interacts (via N-terminus) with KPNA2 and NXF1/TAP. Interacts with F-actin with a stoichiometry of 2:1.

neXtProt entry for FRG1 Gene

Proteomics data for FRG1 Gene at MOPED

Post-translational modifications for FRG1 Gene

  • Ubiquitination at Lys 8 and Lys 115
  • Modification sites at PhosphoSitePlus

Other Protein References for FRG1 Gene

Antibody Products

No data available for DME Specific Peptides for FRG1 Gene

Domains & Families for FRG1 Gene

Protein Domains for FRG1 Gene


Suggested Antigen Peptide Sequences for FRG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FRG1 family.
  • Belongs to the FRG1 family.
genes like me logo Genes that share domains with FRG1: view

No data available for Gene Families for FRG1 Gene

Function for FRG1 Gene

Molecular function for FRG1 Gene

GENATLAS Biochemistry:
FSHMD1A (FSHD) region gene 1,expressed in placenta,lymphocytes,brain,muscle,putative transport protein,with multiple copies resulting from ancestral duplication,dispersed throughout the genome
UniProtKB/Swiss-Prot Function:
Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase KMT5B.

Gene Ontology (GO) - Molecular Function for FRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051015 actin filament binding IBA --
genes like me logo Genes that share ontologies with FRG1: view
genes like me logo Genes that share phenotypes with FRG1: view

Human Phenotype Ontology for FRG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for FRG1 Gene

miRTarBase miRNAs that target FRG1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FRG1 Gene

Localization for FRG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRG1 Gene

Nucleus, Cajal body. Nucleus, nucleolus. Cytoplasm. Cytoplasm, myofibril, sarcomere, Z line. Note=Localization changes during myogenesis from mainly cytoplasmic in undifferentiated myoblasts, to strongly nucleolar in early myotubes and back to cytoplasmic 5 days post-differentiation (PubMed:20970242). Localized at the Z-line in the sarcomere of matured myotubes 8 days post-differentiation (PubMed:20970242). {ECO:0000269 PubMed:20970242}.

Subcellular locations from

Jensen Localization Image for FRG1 Gene COMPARTMENTS Subcellular localization image for FRG1 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for FRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IEA,IBA --
GO:0055120 striated muscle dense body IBA --
GO:0071013 catalytic step 2 spliceosome IDA 11991638
genes like me logo Genes that share ontologies with FRG1: view

Pathways & Interactions for FRG1 Gene

SuperPathways for FRG1 Gene

No Data Available

Interacting Proteins for FRG1 Gene

Gene Ontology (GO) - Biological Process for FRG1 Gene


No data available for Pathways by source and SIGNOR curated interactions for FRG1 Gene

Drugs & Compounds for FRG1 Gene

No Compound Related Data Available

Transcripts for FRG1 Gene

Unigene Clusters for FRG1 Gene

FSHD region gene 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FRG1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9
SP1: - -
SP2: -
SP3: - - -

Relevant External Links for FRG1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FRG1 Gene

mRNA expression in normal human tissues for FRG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FRG1 Gene

This gene is overexpressed in Breast (30.2) and CD8 Tcells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FRG1 Gene

SOURCE GeneReport for Unigene cluster for FRG1 Gene Hs.203772

mRNA Expression by UniProt/SwissProt for FRG1 Gene

Tissue specificity: Expressed in adult muscle, lymphocytes, fetal brain, muscle, and placenta. Also expressed in the smooth muscle of arteries and veins, the sweat glands and the epidermis.
genes like me logo Genes that share expression patterns with FRG1: view

Protein tissue co-expression partners for FRG1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for FRG1 Gene

Orthologs for FRG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FRG1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia FRG1 35
  • 92.64 (n)
  • 98.84 (a)
FRG1 36
  • 99 (a)
(Canis familiaris)
Mammalia FRG1 35
  • 93.54 (n)
  • 98.84 (a)
-- 36
  • 99 (a)
(Mus musculus)
Mammalia Frg1 35
  • 90.18 (n)
  • 97.29 (a)
Frg1 16
Frg1 36
  • 97 (a)
(Pan troglodytes)
Mammalia FRG1 35
  • 99.74 (n)
  • 100 (a)
FRG1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Frg1 35
  • 89.66 (n)
  • 95.74 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
(Gallus gallus)
Aves FRG1 35
  • 79.69 (n)
  • 84.37 (a)
-- 36
  • 86 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia frg1 35
  • 76.56 (n)
  • 80.08 (a)
Str.1819 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.8203 35
(Danio rerio)
Actinopterygii zgc:112426 35
  • 71.11 (n)
  • 75.29 (a)
FRG1 36
  • 78 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10428 35
fruit fly
(Drosophila melanogaster)
Insecta CG6480 37
  • 51 (a)
CG6480 35
  • 54.87 (n)
  • 51.89 (a)
CG6480 36
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002512 35
  • 56.03 (n)
  • 51.36 (a)
(Caenorhabditis elegans)
Secernentea frg-1 35
  • 51.05 (n)
  • 44.09 (a)
frg-1 36
  • 38 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3471 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
Species with no ortholog for FRG1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FRG1 Gene

Gene Tree for FRG1 (if available)
Gene Tree for FRG1 (if available)

Paralogs for FRG1 Gene

Paralogs for FRG1 Gene Pseudogenes for FRG1 Gene

genes like me logo Genes that share paralogs with FRG1: view

Variants for FRG1 Gene

Sequence variations from dbSNP and Humsavar for FRG1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_033938 -
VAR_049105 -
rs1003479 -- 189,947,246(+) attga(G/T)agtta intron-variant
rs1028269 -- 189,958,170(+) cattt(C/T)aggga intron-variant
rs1044860 -- 189,948,036(+) TTTCT(C/T)GTTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FRG1 Gene

Variant ID Type Subtype PubMed ID
nsv517295 CNV Gain+Loss 19592680
dgv5873n71 CNV Loss 21882294
nsv880818 CNV Gain 21882294
esv34388 CNV Gain 17911159
dgv5875n71 CNV Gain 21882294
esv23650 CNV Gain 19812545
nsv830180 CNV Gain+Loss 17160897
nsv830182 CNV Loss 17160897
dgv5876n71 CNV Gain 21882294
nsv10641 CNV Loss 18304495
dgv921n67 CNV Gain 20364138
esv2665705 CNV Deletion 23128226
dgv5877n71 CNV Gain 21882294

Variation tolerance for FRG1 Gene

Residual Variation Intolerance Score: 90.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.98; 36.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FRG1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRG1 Gene

Disorders for FRG1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FRG1 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
facioscapulohumeral muscular dystrophy 1
  • facioscapulohumeral muscular dystrophy
suppurative lymphadenitis
  • suppurative lymphadenopathy
muscular dystrophy
  • muscular dystrophies
- elite association - COSMIC cancer census association via MalaCards
Search FRG1 in MalaCards View complete list of genes associated with diseases


  • Facioscapulohumeral muscular dystrophy 1 (FSHD1) [MIM:158900]: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. {ECO:0000269 PubMed:16341202, ECO:0000269 PubMed:23720823}. Note=The gene represented in this entry may be involved in disease pathogenesis. Overexpression of human FRG1 in mice leads to development of facioscapulohumeral muscular dystrophy (FSHD1)-like symptoms such as kyphosis, progressive muscle dystrophy and skeletal muscle atrophy (PubMed:16341202). It also causes aberrant pre-mRNA splicing of TNNT3 and MTMR1, affects the localization and activity of KMT5B, and leads to increased levels of EID3, resulting in inhibited muscle differentiation (PubMed:23720823). These results suggest that FSHD1 results from inappropriate overexpression of FRG1 which leads to abnormal alternative splicing of specific pre-mRNAs. {ECO:0000269 PubMed:16341202, ECO:0000269 PubMed:23720823}.

Relevant External Links for FRG1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FRG1: view

No data available for Genatlas for FRG1 Gene

Publications for FRG1 Gene

  1. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. (PMID: 8733123) van Deutekom J.C.T. … Frants R.R. (Hum. Mol. Genet. 1996) 2 3 4 23 67
  2. Muscular dystrophy candidate gene FRG1 is critical for muscle development. (PMID: 19097195) Hanel M.L. … Jones P.L. (Dev. Dyn. 2009) 3 23
  3. Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation. (PMID: 19607661) Bodega B. … Ginelli E. (BMC Biol. 2009) 3 23
  4. A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy. (PMID: 18852887) Pirozhkova I. … Vassetzky Y. (PLoS ONE 2008) 3 23
  5. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. (PMID: 16341202) Gabellini D. … Tupler R. (Nature 2006) 3 23

Products for FRG1 Gene

Sources for FRG1 Gene

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