FMR1

FMR1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2BKD, 2FMR, 2LA5, 2QND, 4OVA, 4QVZ, 4QW2, 5DE5, 5DE8, 5DEA
Identifiers
Aliases	FMR1, FMRP, FRAXA, POF, POF1, fragile X mental retardation 1, FMRP translational regulator 1, fragile X messenger ribonucleoprotein 1
External IDs	OMIM: 309550; MGI: 95564; HomoloGene: 1531; GeneCards: FMR1; OMA:FMR1 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq27.3 Start 147,911,919 bp[1] End 147,951,125 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A7.1|X 34.83 cM Start 67,722,147 bp[2] End 67,761,569 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in caput epididymis corpus epididymis sural nerve endothelial cell Epithelium of choroid plexus tail of epididymis mucosa of paranasal sinus epithelium of colon retinal pigment epithelium Achilles tendon Top expressed in Gonadal ridge cumulus cell white adipose tissue vas deferens abdominal wall migratory enteric neural crest cell left lung lobe pineal gland ventricular zone mandibular prominence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity poly(U) RNA binding ribosome binding poly(G) binding protein binding protein heterodimerization activity nucleic acid binding translation initiation factor binding mRNA binding G-quadruplex RNA binding RNA strand annealing activity siRNA binding miRNA binding mRNA 3'-UTR binding mRNA 5'-UTR binding translation repressor activity microtubule binding chromatin binding methylated histone binding sequence-specific mRNA binding transmembrane transporter binding RNA stem-loop binding dynein complex binding RNA binding identical protein binding translation regulator activity Cellular component cytoplasm axon terminus dendritic spine nucleoplasm SMN complex mRNA cap binding complex dendrite nucleolus neuron projection cytoplasmic ribonucleoprotein granule nucleus polysomal ribosome perikaryon perinuclear region of cytoplasm ribonucleoprotein complex postsynaptic density chromocenter axon cell junction neuronal ribonucleoprotein granule filopodium tip postsynaptic membrane polysome Cajal body chromosome growth cone chromosome, centromeric region growth cone filopodium viral replication complex plasma membrane extrinsic component of plasma membrane glial cell projection cell projection membrane dendritic filopodium presynaptic membrane presynapse postsynapse synapse cytosol messenger ribonucleoprotein complex cytoplasmic stress granule ribonucleoprotein granule soma dendritic spine neck axon cytoplasm Biological process negative regulation of translational initiation regulation of dendritic spine development positive regulation of intracellular transport of viral material cellular response to virus RNA splicing regulation of gene silencing by miRNA cellular response to hydroxyurea regulation of neurotransmitter secretion positive regulation of gene silencing by miRNA nervous system development cellular response to DNA damage stimulus gene silencing mRNA processing mRNA transport positive regulation of proteasomal protein catabolic process viral process regulation of mRNA stability positive regulation of response to DNA damage stimulus positive regulation of dendritic spine development regulation of filopodium assembly negative regulation of cytoplasmic translation regulation of translation regulation of alternative mRNA splicing, via spliceosome regulation of neuronal action potential positive regulation of mRNA binding cellular response to UV modulation by host of viral RNA genome replication glutamate receptor signaling pathway negative regulation of long-term synaptic depression positive regulation of filopodium assembly negative regulation of synaptic vesicle exocytosis positive regulation of receptor internalization negative regulation of voltage-gated calcium channel activity positive regulation of translation negative regulation of mRNA catabolic process transport positive regulation of protein phosphorylation central nervous system development anterograde axonal transport negative regulation of translation regulation of dendrite morphogenesis regulation of translation at postsynapse, modulating synaptic transmission regulation of modification of synaptic structure Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2332 14265 Ensembl ENSG00000102081 ENSMUSG00000000838 UniProt Q06787 P35922 RefSeq (mRNA) NM_001185075 NM_001185076 NM_001185081 NM_001185082 NM_002024 NM_001290424 NM_008031 NM_001374719 RefSeq (protein) NP_001172004 NP_001172005 NP_001172010 NP_001172011 NP_002015 n/a Location (UCSC) Chr X: 147.91 – 147.95 Mb Chr X: 67.72 – 67.76 Mb PubMed search [3] [4]
Wikidata
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FMR1 (Fragile X Messenger Ribonucleoprotein 1) is a human gene^[5] that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP.^[6] This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. Mutations of this gene can lead to fragile X syndrome, intellectual disability, premature ovarian failure, autism, Parkinson's disease, developmental delays and other cognitive deficits.^[7] The FMR1 premutation is associated with a wide spectrum of clinical phenotypes that affect more than two million people worldwide.^[8]