FRG1

FRG1
Identifiers
Aliases	FRG1, FRG1A, FSG1, FSHD region gene 1
External IDs	OMIM: 601278; MGI: 893597; GeneCards: FRG1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2YUG
Gene location (Human)
Chr.	Chromosome 4 (human)
End	189,963,202 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	41,870,111 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; ganglionic eminence; ; monocyte; ; lymph node; ; ventricular zone; ; placenta; ; Descending thoracic aorta; ; smooth muscle tissue; ; tibial arteries; ; gastric mucosa;
	Top expressed in
	granulocyte; ; blood; ; Gonadal ridge; ; medial ganglionic eminence; ; aortic valve; ; superior cervical ganglion; ; fossa; ; condyle; ; epiblast; ; otic placode;
	More reference expression data
	n/a
Gene ontology
Molecular function	actin binding; protein binding; actin filament binding; RNA binding;
Cellular component	cytoplasm; Cajal body; catalytic step 2 spliceosome; spliceosomal complex; Z discdkac; nucleus; striated muscle dense body; nucleolus;
Biological process	rRNA processing; mRNA splicing, via spliceosome; muscle organ development; mRNA processing; ribosome biogenesis; RNA splicing;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	2483
	14300
	ENSG00000275145; ENSG00000283153; ENSG00000109536; ENSG00000283630
	ENSMUSG00000031590
	Q14331
	P97376
	NM_004477
	NM_013522
	NP_004468
	NP_038550
	Wikidata
View/Edit Human	View/Edit Mouse

Protein FRG1 is an actin-bundling protein^[5] that in humans is encoded by the FRG1 gene.^[6]^[7]

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^[8] 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.^[7] Mice that overexpress FRG1 display facioscapulohumeral muscular dystrophy. Gabellili et al. suggest that human facioscapulohumeral muscular dystrophy results from overexpression of FRG1 in "skeletal muscle, which leads to abnormal alternative splicing of specific pre-mRNAs."^[9] This result has been replicated in tadpoles.^[10]

References

1 2 3 ENSG00000283153, ENSG00000109536, ENSG00000283630 GRCh38: Ensembl release 89: ENSG00000275145, ENSG00000283153, ENSG00000109536, ENSG00000283630 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031590 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Liu Q, Jones TI, Tang VW, Brieher WM, Jones PL (April 2010). "Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites". Journal of Cell Science. 123 (Pt 7): 1116–1123. doi:10.1242/jcs.058958. PMC 2844320. PMID 20215405.
↑ van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, et al. (June 1997). "Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35". Human Molecular Genetics. 5 (5): 581–590. doi:10.1093/hmg/5.5.581. PMID 8733123.
1 2 "Entrez Gene: FRG1 FSHD region gene 1".
↑ Grewal PK, Todd LC, van der Maarel S, Frants RR, Hewitt JE (August 1998). "FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates". Gene. 216 (1): 13–19. doi:10.1016/S0378-1119(98)00334-5. PMID 9714712.
↑ Gabellini D, D'Antona G, Moggio M, Prelle A, Zecca C, Adami R, et al. (February 2006). "Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1". Nature. 439 (7079): 973–977. Bibcode:2006Natur.439..973G. doi:10.1038/nature04422. PMID 16341202. S2CID 4427465.
↑ Hanel ML, Wuebbles RD, Jones PL (June 2009). "Muscular dystrophy candidate gene FRG1 is critical for muscle development". Developmental Dynamics. 238 (6): 1502–1512. doi:10.1002/dvdy.21830. PMC 2964887. PMID 19097195.

Fisher J, Upadhyaya M (1997). "Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)". Neuromuscular Disorders. 7 (1): 55–62. doi:10.1016/S0960-8966(96)00400-2. PMID 9132141. S2CID 898623.
van Geel M, Heather LJ, Lyle R, Hewitt JE, Frants RR, de Jong PJ (October 1999). "The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements". Genomics. 61 (1): 55–65. doi:10.1006/geno.1999.5942. PMID 10512680.
Jurica MS, Licklider LJ, Gygi SR, Grigorieff N, Moore MJ (April 2002). "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis". RNA. 8 (4). New York, N.Y.: 426–439. doi:10.1017/S1355838202021088. PMC 1370266. PMID 11991638.
Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, et al. (May 2003). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nature Biotechnology. 21 (5): 566–569. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
van Koningsbruggen S, Dirks RW, Mommaas AM, Onderwater JJ, Deidda G, Padberg GW, et al. (April 2004). "FRG1P is localised in the nucleolus, Cajal bodies, and speckles". Journal of Medical Genetics. 41 (4): e46. doi:10.1136/jmg.2003.012781. PMC 1735742. PMID 15060122.
Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, et al. (January 2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.

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[refGRCh38Ensembl-1] 1 2 3 ENSG00000283153, ENSG00000109536, ENSG00000283630 GRCh38: Ensembl release 89: ENSG00000275145, ENSG00000283153, ENSG00000109536, ENSG00000283630 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031590 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Liu Q, Jones TI, Tang VW, Brieher WM, Jones PL (April 2010). "Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites". Journal of Cell Science. 123 (Pt 7): 1116–1123. doi:10.1242/jcs.058958. PMC 2844320. PMID 20215405.

[van_1997-6] van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, et al. (June 1997). "Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35". Human Molecular Genetics. 5 (5): 581–590. doi:10.1093/hmg/5.5.581. PMID 8733123.

[entrez-7] 1 2 "Entrez Gene: FRG1 FSHD region gene 1".

[8] Grewal PK, Todd LC, van der Maarel S, Frants RR, Hewitt JE (August 1998). "FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates". Gene. 216 (1): 13–19. doi:10.1016/S0378-1119(98)00334-5. PMID 9714712.

[9] Gabellini D, D'Antona G, Moggio M, Prelle A, Zecca C, Adami R, et al. (February 2006). "Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1". Nature. 439 (7079): 973–977. Bibcode:2006Natur.439..973G. doi:10.1038/nature04422. PMID 16341202. S2CID 4427465.

[10] Hanel ML, Wuebbles RD, Jones PL (June 2009). "Muscular dystrophy candidate gene FRG1 is critical for muscle development". Developmental Dynamics. 238 (6): 1502–1512. doi:10.1002/dvdy.21830. PMC 2964887. PMID 19097195.

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FRG1

References

Further reading