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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
  • Protein FRG1 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. Gene Ontology (GO) annotations related to this gene include 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

Additional gene information for FRG1 Gene

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

Genomics for FRG1 Gene

GeneHancer (GH) Regulatory Elements for FRG1 Gene

Promoters and enhancers for FRG1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J189940 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 671.1 +0.4 439 2.4 PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B FRG1-DT FRG1 MLLT10P2 GC04P189824
GH04J189733 Enhancer 0.7 ENCODE 20.6 -206.2 -206185 1.3 ARNT CEBPG YBX1 PLRG1 MCM2 LCORL FOXK2 NFE2 ATF7 CREM FRG1 LOC105377616 LOC105377619
GH04J189567 Enhancer 0.5 FANTOM5 10 -374.3 -374319 0.3 SOX6 YBX1 PLRG1 FOXA1 GC04M189528 FRG1 LOC105377615
GH04J189583 Enhancer 0.4 FANTOM5 12.5 -357.6 -357593 0.4 NONO FRG1 GC04M189528 LINC01262
GH04J189763 Enhancer 0.3 dbSUPER 9.8 -177.2 -177225 1 PCBP2 FRG1 LOC105377616 LOC105377619
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FRG1 gene promoter:
  • c-Myc
  • Max1
  • MRF-2
  • GCNF
  • GCNF-1
  • GCNF-2

Genomic Locations for FRG1 Gene

Genomic Locations for FRG1 Gene
22,417 bases
Plus strand
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

Post-translational modifications for FRG1 Gene

  • Ubiquitination at Lys115 and isoforms=8
  • Modification sites at PhosphoSitePlus

Other Protein References for FRG1 Gene

No data available for DME Specific Peptides for FRG1 Gene

Domains & Families for FRG1 Gene

Gene Families for FRG1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

Function for FRG1 Gene

Molecular function for FRG1 Gene

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.
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

Phenotypes From GWAS Catalog for FRG1 Gene

Gene Ontology (GO) - Molecular Function for FRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IEA 22658674
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 22365833
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

CRISPR Products

miRNA for FRG1 Gene

miRTarBase miRNAs that target FRG1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FRG1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for FRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005681 spliceosomal complex IEA --
GO:0005730 nucleolus IBA --
GO:0005737 cytoplasm IEA --
GO:0015030 Cajal body IEA --
genes like me logo Genes that share ontologies with FRG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FRG1 Gene

Pathways & Interactions for FRG1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IC 11991638
GO:0006364 rRNA processing IEA --
GO:0006397 mRNA processing IEA --
GO:0007517 muscle organ development IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with FRG1: view

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

mRNA/cDNA for FRG1 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(157) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FRG1 Gene

FSHD region gene 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRG1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FRG1 Gene

Protein tissue co-expression partners for FRG1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FRG1 Gene:


SOURCE GeneReport for Unigene cluster for FRG1 Gene:


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.

Evidence on tissue expression from TISSUES for FRG1 Gene

  • Muscle(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FRG1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • mouth
  • tongue
  • clavicle
  • lung
  • scapula
  • abdominal wall
  • pelvis
  • arm
  • humerus
  • lower limb
  • shin
  • shoulder
  • upper limb
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with FRG1: view

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
(Pan troglodytes)
Mammalia FRG1 34 33
  • 99.74 (n)
(Canis familiaris)
Mammalia -- 34
  • 99 (a)
FRG1 33
  • 93.54 (n)
(Bos Taurus)
Mammalia FRG1 34 33
  • 92.64 (n)
(Mus musculus)
Mammalia Frg1 16 34 33
  • 90.18 (n)
(Rattus norvegicus)
Mammalia Frg1 33
  • 89.66 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 72 (a)
(Gallus gallus)
Aves -- 34
  • 86 (a)
FRG1 33
  • 79.69 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia frg1 33
  • 76.56 (n)
Str.1819 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8203 33
(Danio rerio)
Actinopterygii FRG1 34
  • 78 (a)
zgc:112426 33
  • 71.11 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10428 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002512 33
  • 56.03 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6480 34 35 33
  • 54.87 (n)
(Caenorhabditis elegans)
Secernentea frg-1 34 33
  • 51.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
Cin.3471 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3471 33
Species where no ortholog for FRG1 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for FRG1: view image

Paralogs for FRG1 Gene

Paralogs 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 Variation AA Info Type
rs1000090727 -- 189,951,773(+) T/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs10001956 -- 189,945,400(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000366802 -- 189,940,790(+) C/T upstream_transcript_variant
rs1000419021 -- 189,940,941(+) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant
rs10007357 -- 189,958,292(+) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
dgv204n111 CNV duplication 26073780
dgv5507n100 CNV gain 25217958
dgv5508n100 CNV gain 25217958
dgv5509n100 CNV gain 25217958
dgv921n67 CNV gain 20364138
dgv9457n54 CNV loss 21841781
esv23650 CNV gain 19812545
esv2665705 CNV deletion 23128226
esv2763429 CNV gain 21179565
esv34388 CNV gain 17911159
esv3565285 CNV deletion 23714750
esv3603711 CNV loss 21293372
esv3894102 CNV gain 25118596
nsv1017070 CNV gain 25217958
nsv1017854 CNV loss 25217958
nsv1028932 CNV gain 25217958
nsv1034108 CNV gain 25217958
nsv10641 CNV loss 18304495
nsv1077979 CNV duplication 25765185
nsv1115682 CNV duplication 24896259
nsv1115683 CNV duplication 24896259
nsv1118724 CNV duplication 24896259
nsv1123897 CNV deletion 24896259
nsv1124904 CNV duplication 24896259
nsv1128902 CNV duplication 24896259
nsv1149436 CNV duplication 26484159
nsv517295 CNV gain+loss 19592680
nsv596586 CNV gain 21841781
nsv830180 CNV gain+loss 17160897
nsv830182 CNV loss 17160897
nsv950606 CNV duplication 24416366
nsv964128 CNV duplication 23825009

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)

Additional Variant Information for FRG1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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: HGMD, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
facioscapulohumeral muscular dystrophy 1
  • fmd
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}.

Additional Disease Information for FRG1

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 JC … Frants RR (Human molecular genetics 1996) 2 3 4 22 58
  2. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. (PMID: 16341202) Gabellini D … Tupler R (Nature 2006) 3 4 22 58
  3. FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis. (PMID: 23720823) Neguembor MV … Gabellini D (Journal of molecular cell biology 2013) 3 4 58
  4. Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein. (PMID: 21699900) Sun CY … Jones PL (Journal of molecular biology 2011) 3 4 58
  5. Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein. (PMID: 20970242) Hanel ML … Jones PL (Differentiation; research in biological diversity 2011) 3 4 58

Products for FRG1 Gene

Sources for FRG1 Gene

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