Property Summary

NCBI Gene PubMed Count 27
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
20970242 in muscle FRG1 is a developmentally regulated sarcomeric protein suggesting FRG1 may perform a muscle-specific function
19607661 study compared chromatin structure & tridimensional interaction of the D4Z4 array and FRG1 gene promoter, and FRG1 expression, in control and FSHD cells
19097195 Data show that frg1 is expressed in and essential for the development of the tadpole musculature, and suggest that maintenance of normal FRG1 levels is critical for proper muscle development in frogs and humans.
18852887 differently from normal myoblasts, the 4qA/B marker interacted directly with the promoters of the FRG1 and ANT1 genes in Facio-Scapulo-Humeral Dystrophy cells
16341202 FRG1 transgenic mice develop a muscular dystrophy with features characteristic of the human disease; by contrast, FRG2 and ANT1 transgenic mice seem normal

AA Sequence

MAEYSYVKSTKLVLKGTKTKSKKKKSKDKKRKREEDEETQLDIVGIWWTVTNFGEISGTIAIEMDKGTYI      1 - 70
HALDNGLFTLGAPHKEVDEGPSPPEQFTAVKLSDSRIALKSGYGKYLGINSDGLVVGRSDAIGPREQWEP     71 - 140
VFQNGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETKKKDDIPEEDKGNVKQCEINYV    141 - 210
KKFQSFQDHKLKISKEDSKILKKARKDGFLHETLLDRRAKLKADRYCK                          211 - 258
//

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.
21695143 2011 Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns.
21603621 2011 Decreased proliferation kinetics of mouse myoblasts overexpressing FRG1.
21269460 2011 Initial characterization of the human central proteome.
20970242 2011 Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein.
19607661 2009 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.
19097195 2009 Muscular dystrophy candidate gene FRG1 is critical for muscle development.
18852887 2008 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.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16341202 2006 Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1.
15635413 2005 Nucleolar proteome dynamics.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15060122 2004 FRG1P is localised in the nucleolus, Cajal bodies, and speckles.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11991638 2002 Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.
10512680 1999 The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements.
9132141 1997 Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD).
8733123 1996 Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.