FRG1

FSHD region gene 1
Identifiers
Symbols FRG1 ; FRG1A; FSG1
External IDs OMIM: 601278 MGI: 893597 HomoloGene: 3295 GeneCards: FRG1 Gene
Orthologs
Species Human Mouse
Entrez 2483 14300
Ensembl ENSG00000109536 ENSMUSG00000031590
UniProt Q14331 P97376
RefSeq (mRNA) NM_004477 NM_013522
RefSeq (protein) NP_004468 NP_038550
Location (UCSC) Chr 4:
189.94 – 189.96 Mb
Chr 8:
41.4 – 41.42 Mb
PubMed search

Protein FRG1 is a protein that in humans is encoded by the FRG1 gene.[1][2]

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.[2]

References

  1. 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.
  2. 1 2 "Entrez Gene: FRG1 FSHD region gene 1".

Further reading

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