FXR1

FXR1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2CPQ, 3KUF, 3O8V
Identifiers
Aliases	FXR1 , FXR1P, FMR1 autosomal homolog 1, MYORIBF, MYOPMIL
External IDs	OMIM: 600819; MGI: 104860; HomoloGene: 3573; GeneCards: FXR1; OMA:FXR1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3q26.33 Start 180,868,141 bp [1] End 180,982,753 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 A3 Start 34,074,092 bp [2] End 34,124,471 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm muscle of thigh gastrocnemius muscle Skeletal muscle tissue of biceps brachii Skeletal muscle tissue of rectus abdominis triceps brachii muscle glutes ventricular zone left testis right testis Top expressed in seminiferous tubule spermatid temporal muscle muscle of thigh ankle spermatocyte sternocleidomastoid muscle tail of embryo triceps brachii muscle digastric muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity G-quadruplex RNA binding mRNA 3'-UTR binding protein binding protein heterodimerization activity nucleic acid binding mRNA binding RNA strand annealing activity RNA binding translation regulator activity Cellular component membrane ribonucleoprotein granule dendritic spine axon dendrite nucleolus perinuclear region of cytoplasm costamere nucleus cytosol cytoplasm polysome postsynaptic density cytoplasmic ribonucleoprotein granule soma postsynapse glutamatergic synapse Biological process cell differentiation muscle organ development multicellular organism development apoptotic process positive regulation of gene silencing by miRNA negative regulation of translation regulation of translation regulation of mRNA stability positive regulation of translation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8087 14359 Ensembl ENSG00000114416 ENSMUSG00000027680 UniProt P51114 Q61584 RefSeq (mRNA) NM_001013438 NM_001013439 NM_005087 NM_001363882 NM_001113188 NM_001113189 NM_008053 RefSeq (protein) NP_001013456 NP_001013457 NP_005078 NP_001350811 NP_001106659 NP_001106660 NP_032079 Location (UCSC) Chr 3: 180.87 – 180.98 Mb Chr 3: 34.07 – 34.12 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Interactions

FXR1 has been shown to interact with FXR2, ^{[8] [9]} FMR1 ^{[8] [9]} and CYFIP2. ^[10]

References

1. GRCh38: Ensembl release 89: ENSG00000114416 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027680 – 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. 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.
6. 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.
7. "Entrez Gene: FXR1 fragile X mental retardation, autosomal homolog 1".
8. 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.
9. 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.
10. 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.

Further reading

• Zhang Y, O'Connor JP, Siomi MC, et al. (1996). "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. PMC   394645 . PMID   7489725.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Coy JF, Sedlacek Z, Bächner D, et al. (1996). "Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1". Hum. Mol. Genet. 4 (12): 2209–18. doi:10.1093/hmg/4.12.2209. PMID   8634689.
• Siomi MC, Zhang Y, Siomi H, Dreyfuss G (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. PMC   231379 . PMID   8668200.
• Tamanini F, Willemsen R, van Unen L, et al. (1997). "Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis". Hum. Mol. Genet. 6 (8): 1315–22. doi: 10.1093/hmg/6.8.1315 . hdl: 1765/8709 . PMID   9259278.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Khandjian EW, Bardoni B, Corbin F, et al. (1999). "Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis". Hum. Mol. Genet. 7 (13): 2121–8. doi:10.1093/hmg/7.13.2121. PMID   9817930.
• Tamanini F, Bontekoe C, Bakker CE, et al. (1999). "Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations". Hum. Mol. Genet. 8 (5): 863–9. doi: 10.1093/hmg/8.5.863 . hdl: 1765/9073 . PMID   10196376.
• Tamanini F, Van Unen L, Bakker C, et al. (2000). "Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P". Biochem. J. 343 (3): 517–23. doi:10.1042/0264-6021:3430517. PMC   1220581 . PMID   10527928.
• Bardoni B, Schenck A, Mandel JL (2000). "A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein". Hum. Mol. Genet. 8 (13): 2557–66. doi: 10.1093/hmg/8.13.2557 . PMID   10556305.
• Ceman S, Brown V, Warren ST (2000). "Isolation of an FMRP-Associated Messenger Ribonucleoprotein Particle and Identification of Nucleolin and the Fragile X-Related Proteins as Components of the Complex". Mol. Cell. Biol. 19 (12): 7925–32. doi:10.1128/mcb.19.12.7925. PMC   84877 . PMID   10567518.
• Tamanini F, Kirkpatrick LL, Schonkeren J, et al. (2000). "The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins". Hum. Mol. Genet. 9 (10): 1487–93. doi: 10.1093/hmg/9.10.1487 . hdl: 1765/9408 . PMID   10888599.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Schenck A, Bardoni B, Moro A, et al. (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". Proc. Natl. Acad. Sci. U.S.A. 98 (15): 8844–9. Bibcode:2001PNAS...98.8844S. doi: 10.1073/pnas.151231598 . PMC   37523 . PMID   11438699.
• Kirkpatrick LL, McIlwain KA, Nelson DL (2002). "Comparative genomic sequence analysis of the FXR gene family: FMR1, FXR1, and FXR2". Genomics. 78 (3): 169–77. doi:10.1006/geno.2001.6667. PMID   11735223.
• 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.
• Imabayashi H, Mori T, Gojo S, et al. (2003). "Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis". Exp. Cell Res. 288 (1): 35–50. doi:10.1016/S0014-4827(03)00130-7. PMID   12878157.
• 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.