FRG1

FRG1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFRG1, FRG1A, FSG1, FSHD region gene 1
External IDsMGI: 893597 HomoloGene: 3295 GeneCards: FRG1
Gene location (Human)
Chr.Chromosome 4 (human)[1]
Band4q35.2Start189,940,788 bp[1]
End189,963,204 bp[1]
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: 41.4 – 41.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. 1 2 3 ENSG00000283153, ENSG00000109536, ENSG00000283630 GRCh38: Ensembl release 89: ENSG00000275145, ENSG00000283153, ENSG00000109536, ENSG00000283630 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031590 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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.
  6. 1 2 "Entrez Gene: FRG1 FSHD region gene 1".

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.
  • 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. 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. 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. doi:10.1038/nature04422. PMID 16341202.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.