FXR1
RNA-binding protein required for embryonic and postnatal development of muscle tissue. May regulate intracellular transport and local translation of certain mRNAs. Belongs to the FMR1 family. Expressed in all tissues examined including heart, brain, kidney and testis. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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Protein type: RNA-binding; Translation |
Chromosomal Location of human Ortholog: 3q26.33 |
Cellular Component:
axon; costamere; cytoplasm; cytoplasmic ribonucleoprotein granule; cytoplasmic stress granule; cytosol; dendritic filopodium; dendritic spine; dendritic spine neck; glutamatergic synapse; growth cone; intracellular non-membrane-bounded organelle; membrane; neuronal cell body; nuclear envelope; nucleolus; nucleus; perinuclear region of cytoplasm; polysome; postsynaptic density; presynapse
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Molecular Function:
molecular condensate scaffold activity; mRNA 3'-UTR AU-rich region binding; mRNA 3'-UTR binding; protein binding; protein heterodimerization activity; protein homodimerization activity; RNA binding; RNA strand annealing activity; translation regulator activity
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Biological Process:
apoptotic process; dentate gyrus development; mRNA destabilization; muscle organ development; negative regulation of inflammatory response; negative regulation of long-term synaptic potentiation; negative regulation of translation; negative regulation of tumor necrosis factor production; non-membrane-bounded organelle assembly; nuclear pore complex assembly; nuclear pore localization; positive regulation of miRNA-mediated gene silencing; positive regulation of protein phosphorylation; positive regulation of translation; regulation of alternative mRNA splicing, via spliceosome; regulation of circadian sleep/wake cycle, sleep; regulation of filopodium assembly; regulation of mRNA stability; regulation of neurogenesis; regulation of synaptic transmission, glutamatergic; skeletal muscle organ development; spermatid development
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Disease: Myopathy, Congenital Proximal, With Minicore Lesions; Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
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Reference #:
P51114
(UniProtKB)
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Alt. Names/Synonyms: FMR1 autosomal homolog 1; Fragile X mental retardation syndrome-related protein 1; fragile X mental retardation, autosomal homolog 1; FXR1; FXR1P; hFXR1p; MYOPMIL; MYORIBF; RNA-binding protein FXR1
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Gene Symbols: FXR1
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Molecular weight:
69,721 Da
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Basal Isoelectric point:
5.84
Predict pI for various phosphorylation states
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Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
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