FXR1

Fragile X mental retardation syndrome-related protein 1 is a protein that in humans is encoded by the FXR1 gene.^[5][6][7]

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
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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]