Property Summary

NCBI Gene PubMed Count 27
Grant Count 21
R01 Count 15
Funding $1,954,296.66
PubMed Score 19.56
PubTator Score 24.36

Knowledge Summary

Patent

No data available

Expression

Gene RIF (15)

PMID Text
26362536 HIV-1 Gag interacts with FRG1 as demonstrated by proximity dependent biotinylation proteomics
25695429 FRG1 mice overexpressing FHL1 showed an improvement in the dystrophic phenotype
25603992 Penetrance of FSHD1 is low for largest alleles in the range of 9-10 RUs, and lower in women than men.
25326393 Our results demonstrate that FRG1 is a direct DUX4 transcriptional target uncovering a novel regulatory circuit contributing to Facioscapulohumeral muscular dystrophy.
25256356 Study showed that the variability in clinical severity of facioscapulohumeral muscular dystrophy in FSHD1 and FSHD2 individuals is dependent on individual differences in susceptibility to D4Z4 hypomethylation.
23720823 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.
23166591 HIV-1 Gag interacts with FRG1 as demonstrated by proximity dependent biotinylation proteomics
21699900 These data provide the first biochemical activities (actin binding and RNA binding) for human FRG1 and the characterization of the endogenous human FRG1, together indicating that FRG1 is involved in multiple aspects of RNA biogenesis.
21695143 new insights into the gene deregulation characterizing both FSHD-1 and FSHD-2, in which miRNAs may play a role
21603621 depressed myoblast proliferation may contribute to the pathology of mice overexpressing FRG1 and may play a part in facioscapulohumeral muscular dystrophy
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AA Sequence

MAEYSYVKSTKLVLKGTKTKSKKKKSKDKKRKREEDEETQLDIVGIWWTVTNFGEISGTIAIEMDKGTYI      1 - 70
HALDNGLFTLGAPHKEVDEGPSPPEQFTAVKLSDSRIALKSGYGKYLGINSDGLVVGRSDAIGPREQWEP     71 - 140
VFQNGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETKKKDDIPEEDKGNVKQCEINYV    141 - 210
KKFQSFQDHKLKISKEDSKILKKARKDGFLHETLLDRRAKLKADRYCK                          211 - 258
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Text Mined References (29)

PMID Year Title
25695429 2015 FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).
25603992 2015 Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
25416956 2014 A proteome-scale map of the human interactome network.
25326393 2015 Direct interplay between two candidate genes in FSHD muscular dystrophy.
25256356 2015 Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
23720823 2013 FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22365833 2012 Dynamic protein-protein interaction wiring of the human spliceosome.
21699900 2011 Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein.
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