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; OMA:FRG1 - orthologs
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 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 a protein that in humans is encoded by the FRG1 gene.^[5]^[6]

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.^[6]

References

^ ^a ^b ^c ENSG00000283153, ENSG00000109536, ENSG00000283630 GRCh38: Ensembl release 89: ENSG00000275145, ENSG00000283153, ENSG00000109536, ENSG00000283630 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ 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.
^ ^a ^b "Entrez Gene: FRG1 FSHD region gene 1".

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.
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. 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.
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 (inactive 2020-05-21). PMC 1735742. PMID 15060122.{{cite journal}}: CS1 maint: DOI inactive as of May 2020 (link)
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.
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.

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

[refGRCm38Ensembl-2] 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.

[pmid8733123-5] 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-6] "Entrez Gene: FRG1 FSHD region gene 1".

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References

Further reading