FRG1

FRG1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2YUG
Identifiers
Aliases	FRG1, FRG1A, FSG1, FSHD region gene 1
External IDs	OMIM: 601278 MGI: 893597 HomoloGene: 3295 GeneCards: FRG1
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; ; placenta; ; smooth muscle tissue; ; gastric mucosa; ; tibial nerve; ; endometrium; ; subcutaneous adipose tissue;
	Top expressed in
	blood; ; medial ganglionic eminence; ; aortic valve; ; superior cervical ganglion; ; fossa; ; condyle; ; otic placode; ; medullary collecting duct; ; spermatocyte; ; morula;
	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 disc; 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
	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, Qian; Jones, Takako Iida; Tang, Vivian W.; Brieher, William M.; Jones, Peter L. (2010-04-01). "Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites". Journal of Cell Science. 123 (7): 1116–1123. doi:10.1242/jcs.058958. ISSN 0021-9533. PMC 2844320. PMID 20215405.
↑ van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR (Jun 1997). "Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35". Hum Mol Genet. 5 (5): 581–90. doi:10.1093/hmg/5.5.581. PMID 8733123.
1 2 "Entrez Gene: FRG1 FSHD region gene 1".
↑ Grewal, Prabhjit K.; Carim Todd, Laura; Van Der Maarel, Silvere; Frants, Rune R.; Hewitt, Jane E. (1998-08-17). "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. ISSN 0378-1119. PMID 9714712.
↑ Gabellini, Davide; D'Antona, Giuseppe; Moggio, Maurizio; Prelle, Alessandro; Zecca, Chiara; Adami, Raffaella; Angeletti, Barbara; Ciscato, Patrizia; Pellegrino, Maria Antonietta; Bottinelli, Roberto; Green, Michael R. (February 2006). "Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1". Nature. 439 (7079): 973–977. Bibcode:2006Natur.439..973G. doi:10.1038/nature04422. ISSN 1476-4687. PMID 16341202. S2CID 4427465.
↑ Hanel, Meredith L.; Wuebbles, Ryan D.; Jones, Peter L. (June 2009). "Muscular dystrophy candidate gene FRG1 is critical for muscle development". Developmental Dynamics. 238 (6): 1502–1512. doi:10.1002/dvdy.21830. ISSN 1058-8388. PMC 2964887. PMID 19097195.

Fisher J, Upadhyaya M (1997). "Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)". Neuromuscul. Disord. 7 (1): 55–62. doi:10.1016/S0960-8966(96)00400-2. PMID 9132141. S2CID 898623.
van Geel M, Heather LJ, Lyle R, et al. (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, et al. (2002). "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis". RNA. 8 (4): 426–39. doi:10.1017/S1355838202021088. PMC 1370266. PMID 11991638.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
van Koningsbruggen S, Dirks RW, Mommaas AM, et al. (2004). "FRG1P is localised in the nucleolus, Cajal bodies, and speckles". J. Med. Genet. 41 (4): e46. doi:10.1136/jmg.2003.012781. PMC 1735742. PMID 15060122.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.
Gabellini D, D'Antona G, Moggio M, et al. (2006). "Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1". Nature. 439 (7079): 973–7. Bibcode:2006Natur.439..973G. doi:10.1038/nature04422. PMID 16341202. S2CID 4427465.

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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, Qian; Jones, Takako Iida; Tang, Vivian W.; Brieher, William M.; Jones, Peter L. (2010-04-01). "Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites". Journal of Cell Science. 123 (7): 1116–1123. doi:10.1242/jcs.058958. ISSN 0021-9533. PMC 2844320. PMID 20215405.

[pmid8733123-6] van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR (Jun 1997). "Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35". Hum Mol Genet. 5 (5): 581–90. doi:10.1093/hmg/5.5.581. PMID 8733123.

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

[8] Grewal, Prabhjit K.; Carim Todd, Laura; Van Der Maarel, Silvere; Frants, Rune R.; Hewitt, Jane E. (1998-08-17). "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. ISSN 0378-1119. PMID 9714712.

[9] Gabellini, Davide; D'Antona, Giuseppe; Moggio, Maurizio; Prelle, Alessandro; Zecca, Chiara; Adami, Raffaella; Angeletti, Barbara; Ciscato, Patrizia; Pellegrino, Maria Antonietta; Bottinelli, Roberto; Green, Michael R. (February 2006). "Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1". Nature. 439 (7079): 973–977. Bibcode:2006Natur.439..973G. doi:10.1038/nature04422. ISSN 1476-4687. PMID 16341202. S2CID 4427465.

[10] Hanel, Meredith L.; Wuebbles, Ryan D.; Jones, Peter L. (June 2009). "Muscular dystrophy candidate gene FRG1 is critical for muscle development". Developmental Dynamics. 238 (6): 1502–1512. doi:10.1002/dvdy.21830. ISSN 1058-8388. PMC 2964887. PMID 19097195.

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Further reading