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Aliases for FRG1 Gene

Aliases for FRG1 Gene

  • FSHD Region Gene 1 2 3
  • FSHD Region Gene 1 Protein 3 4
  • FSG1 3 6
  • Facioscapulohumeral Muscular Dystrophy Region Gene-1 3
  • Protein FRG1 3
  • FRG1A 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. An important paralog of this gene is FRG1B.

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 SUV420H1.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FRG1 Gene

Start:
189,940,788 bp from pter
End:
189,963,205 bp from pter
Size:
22,418 bases
Orientation:
Plus strand

Genomic View for FRG1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q14331-FRG1_HUMAN
    Recommended name:
    Protein FRG1
    Protein Accession:
    Q14331
    Secondary Accessions:
    • A8K775

    Protein attributes for FRG1 Gene

    Size:
    258 amino acids
    Molecular mass:
    29172 Da
    Quaternary structure:
    • Homodimer and homotetramer in solution. Identified in the spliceosome C complex. Interacts with SUV420H1 (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 Lys8 and Lys115
  • Modification sites at PhosphoSitePlus

Other Protein References for FRG1 Gene

No data available for DME Specific Peptides for FRG1 Gene

Domains for FRG1 Gene

Protein Domains for FRG1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FRG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14331

UniProtKB/Swiss-Prot:

FRG1_HUMAN :
  • Q14331
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 SUV420H1.

Gene Ontology (GO) - Molecular Function for FRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 22365833
GO:0030674 protein binding, bridging --
GO:0044822 poly(A) RNA binding IDA 22658674
GO:0051015 actin filament binding --
genes like me logo Genes that share ontologies with FRG1: view

Animal Model Products

CRISPR Products

miRNA for FRG1 Gene

miRTarBase miRNAs that target FRG1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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. Localized at the Z-line in the sarcomere of matured myotubes 8 days post-differentiation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FRG1 Gene 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:0005730 nucleolus IEA --
GO:0005737 cytoplasm --
GO:0015030 Cajal body IEA --
GO:0030018 Z disc IEA --
GO:0071013 catalytic step 2 spliceosome IDA 11991638
genes like me logo Genes that share ontologies with FRG1: view

Pathways for FRG1 Gene

SuperPathways for FRG1 Gene

No Data Available

Interacting Proteins for FRG1 Gene

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:0007517 muscle organ development IEA --
genes like me logo Genes that share ontologies with FRG1: view

No data available for Pathways by source for FRG1 Gene

Transcripts for FRG1 Gene

mRNA/cDNA for FRG1 Gene

Unigene Clusters for FRG1 Gene

FSHD region gene 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FRG1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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
FRG1
ECgene alternative splicing isoforms for
FRG1

Expression for FRG1 Gene

mRNA expression in normal human tissues for FRG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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

Q14331-FRG1_HUMAN
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 expressions with FRG1: view

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
chimpanzee
(Pan troglodytes)
Mammalia FRG1 35
  • 99.74 (n)
  • 100 (a)
FRG1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FRG1 35
  • 92.64 (n)
  • 98.84 (a)
FRG1 36
  • 99 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 99 (a)
OneToMany
FRG1 35
  • 93.54 (n)
  • 98.84 (a)
mouse
(Mus musculus)
Mammalia Frg1 35
  • 90.18 (n)
  • 97.29 (a)
Frg1 16
Frg1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 80 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Frg1 35
  • 89.66 (n)
  • 95.74 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 86 (a)
OneToMany
FRG1 35
  • 79.69 (n)
  • 84.37 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 82 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.8203 35
tropical clawed frog
(Silurana tropicalis)
Amphibia frg1 35
  • 76.56 (n)
  • 80.08 (a)
Str.1819 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10428 35
zebrafish
(Danio rerio)
Actinopterygii FRG1 36
  • 78 (a)
OneToMany
zgc:112426 35
  • 71.11 (n)
  • 75.29 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002512 35
  • 56.03 (n)
  • 51.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6480 35
  • 54.87 (n)
  • 51.89 (a)
CG6480 36
  • 44 (a)
OneToMany
CG6480 37
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea frg-1 35
  • 51.05 (n)
  • 44.09 (a)
frg-1 36
  • 38 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3471 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToMany
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

ENSEMBL:
Gene Tree for FRG1 (if available)
TreeFam:
Gene Tree for FRG1 (if available)

Paralogs for FRG1 Gene

Paralogs for FRG1 Gene

Pseudogenes.org 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 MAF
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
rs1061653 -- 189,955,087(+) AGATG(A/G)ACTTG missense, reference, intron-variant
rs1138726 -- 189,940,928(+) CTGTT(C/T)CTCCG utr-variant-5-prime, upstream-variant-2KB

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

Relevant External Links for FRG1 Gene

HapMap Linkage Disequilibrium report
FRG1
Human Gene Mutation Database (HGMD)
FRG1

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

Disorders for FRG1 Gene

UniProtKB/Swiss-Prot

FRG1_HUMAN
  • 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 SUV420H1, 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}.

(2) University of Copenhagen DISEASES for FRG1 Gene

(2) Novoseek inferred disease relationships for FRG1 Gene

Disease -log(P) Hits PubMed IDs
muscular dystrophy facioscapulohumeral 95.4 6
muscular dystrophies 72.2 4
genes like me logo Genes that share disorders with FRG1: view

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
  2. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. (PMID: 16341202) Gabellini D. … Tupler R. (Nature 2006) 3 4 23
  3. Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD). (PMID: 9132141) Fisher J. … Upadhyaya M. (Neuromuscul. Disord. 1997) 3 23
  4. 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
  5. The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements. (PMID: 10512680) van Geel M. … de Jong P.J. (Genomics 1999) 3 4

Products for FRG1 Gene

Sources for FRG1 Gene

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