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Protein-coding gene in the species Homo sapiens
Fragile X mental retardation syndrome-related protein 1 is a protein that in humans is encoded by the FXR1 gene .[ 5] [ 6] [ 7]
The protein encoded by this gene is an RNA binding protein that interacts with the functionally similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene.[ 7]
FXR1 has been shown to interact with FXR2 ,[ 8] [ 9] FMR1 [ 8] [ 9] CYFIP2 .[ 10]
^ a b c GRCh38: Ensembl release 89: ENSG00000114416 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027680 – 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 .^ Siomi MC, Siomi H, Sauer WH, Srinivasan S, Nussbaum RL, Dreyfuss G (July 1995). "FXR1, an autosomal homolog of the fragile X mental retardation gene" . EMBO J . 14 (11): 2401–8. doi :10.1002/j.1460-2075.1995.tb07237.x . PMC 398353 PMID 7781595 . ^ Bolivar J, Guelman S, Iglesias C, Ortiz M, Valdivia MM (August 1998). "The fragile-X-related gene FXR1 is a human autoantigen processed during apoptosis" . J Biol Chem . 273 (27): 17122–7. doi :10.1074/jbc.273.27.17122 PMID 9642279 . ^ a b "Entrez Gene: FXR1 fragile X mental retardation, autosomal homolog 1" .^ a b Siomi, M C; Zhang Y; Siomi H; Dreyfuss G (July 1996). "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" . Mol. Cell. Biol . 16 (7): 3825–32. doi :10.1128/mcb.16.7.3825 . ISSN 0270-7306 . PMC 231379 PMID 8668200 . ^ a b Zhang, Y; O'Connor J P; Siomi M C; Srinivasan S; Dutra A; Nussbaum R L; Dreyfuss G (November 1995). "The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2" . EMBO J . 14 (21): 5358–66. doi :10.1002/j.1460-2075.1995.tb00220.x . ISSN 0261-4189 . PMC 394645 PMID 7489725 . ^ Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL (Jul 2001). "A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P" . Proceedings of the National Academy of Sciences of the United States of America . 98 (15): 8844–9. Bibcode :2001PNAS...98.8844S . doi :10.1073/pnas.151231598 PMC 37523 PMID 11438699 .
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