FRG1

Protein-coding gene in the species Homo sapiens
FRG1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2YUG

Identifiers
AliasesFRG1, FRG1A, FSG1, FSHD region gene 1
External IDsOMIM: 601278; MGI: 893597; HomoloGene: 3295; GeneCards: FRG1; OMA:FRG1 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for FRG1
Genomic location for FRG1
Band4q35.2Start189,940,870 bp[1]
End189,963,202 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for FRG1
Genomic location for FRG1
Band8 A4|8 23.89 cMStart41,850,496 bp[2]
End41,870,111 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
BioGPS
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
SpeciesHumanMouse
Entrez

2483

14300

Ensembl

ENSG00000275145
ENSG00000283153
ENSG00000109536
ENSG00000283630

ENSMUSG00000031590

UniProt

Q14331

P97376

RefSeq (mRNA)

NM_004477

NM_013522

RefSeq (protein)

NP_004468

NP_038550

Location (UCSC)Chr 4: 189.94 – 189.96 MbChr 8: 41.85 – 41.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c ENSG00000283153, ENSG00000109536, ENSG00000283630 GRCh38: Ensembl release 89: ENSG00000275145, ENSG00000283153, ENSG00000109536, ENSG00000283630 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  7. ^ a b "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.

Further reading

  • 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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