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Gene Review

FXR1  -  fragile X mental retardation, autosomal...

Homo sapiens

Synonyms: Fragile X mental retardation syndrome-related protein 1, hFXR1p
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Disease relevance of FXR1

  • The X-linked FMR1 gene, which is involved in the fragile X syndrome, forms a small gene family with its two autosomal homologs, FXR1 and FXR2 [1].
  • Expression of the hamster cDNA clone in Escherichia coli and antibody production indicates unequivocally the location of the FXR1 protein in the cytoplasm of hamster cells [2].
  • The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins [3].

Psychiatry related information on FXR1


High impact information on FXR1

  • AGO2 and FXR1 bind to the AU-rich element in the 3'-UTR of TNFalpha mRNA, unexpectedly activating its translation in a cell growth-dependent manner [5].
  • 1. In addition, FMR1 and FXR2 interact tightly with the recently described autosomal homolog FXR1 [6].
  • We found a novel gene, FXR1, that is highly homologous to FMR1 and located on chromosome 12 at 12q13 [7].
  • Colocalization studies further showed that the FMRP-GFP labeled granules also contained RNA, ribosomal subunits, kinesin heavy chain, and FXR1P molecules [8].
  • The failure of FMRP I304N to suppress translation is not due to its reduced affinity for mRNA or its interacting proteins FXR1 and FXR2 [9].

Biological context of FXR1


Anatomical context of FXR1

  • In muscle tissues as well as in murine myoblastic cell lines induced to differentiate into myotubes, FXR1P78and P70isoforms are replaced by novel unpredicted isoforms of 81-84 kDa and a novel FXR1 exon splice variant was detected in muscle RNA [12].
  • Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis [15].
  • At 24 hpf, fxr1 and fxr2 transcripts show complex distribution patterns in somites [16].
  • In addition, Fxr1p is also highly expressed in striated muscle tissue [13].
  • FXR1 and FXR2 mRNA had the same distribution and similar intensity in the brains of normal and pathologic fetuses (female and male carriers) [17].

Associations of FXR1 with chemical compounds

  • We investigated the intracellular distribution of various FXR1P isoforms with (iso-e and iso-f) and without (iso-d) the potential NoS in transfected COS cells treated with the nuclear export inhibitor leptomycin-B [3].

Physical interactions of FXR1

  • FMRP is the archetype of a novel family of cytoplasmic RNA-binding proteins that includes FXR1P and FXR2P [18].

Other interactions of FXR1


Analytical, diagnostic and therapeutic context of FXR1


  1. Characterization of Fxr1 in Danio rerio; a simple vertebrate model to study costamere development. Engels, B., van 't Padje, S., Blonden, L., Severijnen, L.A., Oostra, B.A., Willemsen, R. J. Exp. Biol. (2004) [Pubmed]
  2. The fragile-X-related gene FXR1 is a human autoantigen processed during apoptosis. Bolívar, J., Guelman, S., Iglesias, C., Ortíz, M., Valdivia, M.M. J. Biol. Chem. (1998) [Pubmed]
  3. The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins. Tamanini, F., Kirkpatrick, L.L., Schonkeren, J., van Unen, L., Bontekoe, C., Bakker, C., Nelson, D.L., Galjaard, H., Oostra, B.A., Hoogeveen, A.T. Hum. Mol. Genet. (2000) [Pubmed]
  4. Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P. Tamanini, F., Van Unen, L., Bakker, C., Sacchi, N., Galjaard, H., Oostra, B.A., Hoogeveen, A.T. Biochem. J. (1999) [Pubmed]
  5. Argonautes and Company: Sailing against the Wind. Bhattacharyya, S.N., Filipowicz, W. Cell (2007) [Pubmed]
  6. The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. Zhang, Y., O'Connor, J.P., Siomi, M.C., Srinivasan, S., Dutra, A., Nussbaum, R.L., Dreyfuss, G. EMBO J. (1995) [Pubmed]
  7. FXR1, an autosomal homolog of the fragile X mental retardation gene. Siomi, M.C., Siomi, H., Sauer, W.H., Srinivasan, S., Nussbaum, R.L., Dreyfuss, G. EMBO J. (1995) [Pubmed]
  8. Transport of fragile X mental retardation protein via granules in neurites of PC12 cells. De Diego Otero, Y., Severijnen, L.A., van Cappellen, G., Schrier, M., Oostra, B., Willemsen, R. Mol. Cell. Biol. (2002) [Pubmed]
  9. Evidence that fragile X mental retardation protein is a negative regulator of translation. Laggerbauer, B., Ostareck, D., Keidel, E.M., Ostareck-Lederer, A., Fischer, U. Hum. Mol. Genet. (2001) [Pubmed]
  10. Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them. Siomi, M.C., Zhang, Y., Siomi, H., Dreyfuss, G. Mol. Cell. Biol. (1996) [Pubmed]
  11. Alternative splicing in the murine and human FXR1 genes. Kirkpatrick, L.L., McIlwain, K.A., Nelson, D.L. Genomics (1999) [Pubmed]
  12. Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis. Khandjian, E.W., Bardoni, B., Corbin, F., Sittler, A., Giroux, S., Heitz, D., Tremblay, S., Pinset, C., Montarras, D., Rousseau, F., Mandel, J. Hum. Mol. Genet. (1998) [Pubmed]
  13. Two members of the Fxr gene family, Fmr1 and Fxr1, are differentially expressed in Xenopus tropicalis. Blonden, L., van 't Padje, S., Severijnen, L.A., Destree, O., Oostra, B.A., Willemsen, R. Int. J. Dev. Biol. (2005) [Pubmed]
  14. Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1. Coy, J.F., Sedlacek, Z., Bächner, D., Hameister, H., Joos, S., Lichter, P., Delius, H., Poustka, A. Hum. Mol. Genet. (1995) [Pubmed]
  15. Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. Tamanini, F., Willemsen, R., van Unen, L., Bontekoe, C., Galjaard, H., Oostra, B.A., Hoogeveen, A.T. Hum. Mol. Genet. (1997) [Pubmed]
  16. Expression of three zebrafish orthologs of human FMR1-related genes and their phylogenetic relationships. Tucker, B., Richards, R., Lardelli, M. Dev. Genes Evol. (2004) [Pubmed]
  17. Expression of FMR1, FXR1, and FXR2 genes in human prenatal tissues. Agulhon, C., Blanchet, P., Kobetz, A., Marchant, D., Faucon, N., Sarda, P., Moraine, C., Sittler, A., Biancalana, V., Malafosse, A., Abitbol, M. J. Neuropathol. Exp. Neurol. (1999) [Pubmed]
  18. Biology of the fragile X mental retardation protein, an RNA-binding protein. Khandjian, E.W. Biochem. Cell Biol. (1999) [Pubmed]
  19. Mapping of the ATP11B gene and refined localization of the SOX2 and FXR1 genes to BTA1q33. Drögemüller, C., Kuiper, H., Spötter, A., Williams, J.L., Distl, O. Anim. Genet. (2004) [Pubmed]
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