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)
End	147,951,125 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	67,761,569 bp
RNA expression pattern
	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
	; ;
	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
	2332
	14265
	ENSG00000102081
	ENSMUSG00000000838
	Q06787
	P35922
	NM_001185075; NM_001185076; NM_001185081; NM_001185082; NM_002024
	NM_001290424; NM_008031; NM_001374719
	NP_001172004; NP_001172005; NP_001172010; NP_001172011; NP_002015
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

FMR1 (Fragile X Messenger Ribonucleoprotein 1) is a human gene that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. 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, FXPOI (Fragile X-associated primary ovarian insufficiency), autism, FXTAS (Fragile X-associated tremor/ataxia syndrome), developmental delays and other cognitive deficits. The FMR1 premutation is associated with a wide spectrum of clinical phenotypes that affect more than two million people worldwide.