ID:FMR1_HUMAN DESCRIPTION: RecName: Full=Fragile X mental retardation protein 1; Short=FMRP; Short=Protein FMR-1; FUNCTION: Translation repressor. Component of the CYFIP1-EIF4E- FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity). RNA- binding protein that plays a role in intracellular RNA transport and in the regulation of translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C). SUBUNIT: Component of the CYFIP1-EIF4E-FMR1 complex which is composed of CYFIP, EIF4E and FMR1. Interacts with CYFIP1 and CYFIP2. The interaction with brain cytoplasmic RNA 1 (BC1) increases binding affinity for the CYFIP1-EIF4E complex in the brain (By similarity). Homooligomer. Found in a RNP granule complex with IGF2BP1. Directly interacts with SMN and TDRD3. Interacts with the SMN core complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts with FXR1, FXR2, IGF2BP1, NUFIP1, NUFIP2, MCRS1 and RANBP9. INTERACTION: Q7L576:CYFIP1; NbExp=4; IntAct=EBI-366305, EBI-1048143; Q96F07:CYFIP2; NbExp=2; IntAct=EBI-366305, EBI-2433893; SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. TISSUE SPECIFICITY: Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in epithelial tissues and at very low levels in glial cells. DOMAIN: The tandem Tudor domains preferentially recognize trimethylated histone peptides (By similarity). PTM: Phosphorylated on several serine residues (By similarity). DISEASE: Defects in FMR1 are the cause of fragile X syndrome (FRAX) [MIM:300624]. Fragile X syndrome is a common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region. DISEASE: Defects in FMR1 are the cause of fragile X tremor/ataxia syndrome (FXTAS) [MIM:300623]. In FXTAS, the expanded repeats range in size from 55 to 200 repeats and are referred to as 'premutations'. Full repeat expansions with greater than 200 repeats results in fragile X mental retardation syndrome [MIM:300624]. Carriers of the premutation typically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical features of fragile X syndrome or mild cognitive and emotional problems. DISEASE: Defects in FMR1 are the cause of premature ovarian failure syndrome type 1 (POF1) [MIM:311360]. An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. MISCELLANEOUS: RNA-binding activity is inhibited by RANBP9. MISCELLANEOUS: The mechanism of the severe phenotype in the Asn- 304 patient lies in the sequestration of bound mRNAs in nontranslatable mRNP particles. In the absence of FMRP, these same mRNAs may be partially translated via alternate mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome. Asn-304 mutation maps to a position within the second KH domain of FMRP that is critical for stabilizing sequence-specific RNA-protein interactions. Asn-304 mutation abrogates the association of the FMRP KH 2 domain with its target, kissing complex RNA. SIMILARITY: Belongs to the FMR1 family. SIMILARITY: Contains 2 Agenet-like domains. SIMILARITY: Contains 2 KH domains. SEQUENCE CAUTION: Sequence=AAA52458.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAA62466.1; Type=Erroneous gene model prediction; Sequence=AAA62467.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FMR1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q06787
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000381 regulation of alternative mRNA splicing, via spliceosome GO:0002092 positive regulation of receptor internalization GO:0006397 mRNA processing GO:0006417 regulation of translation GO:0006974 cellular response to DNA damage stimulus GO:0007215 glutamate receptor signaling pathway GO:0007399 nervous system development GO:0008380 RNA splicing GO:0016032 viral process GO:0031047 gene silencing by RNA GO:0033129 positive regulation of histone phosphorylation GO:0034644 cellular response to UV GO:0043488 regulation of mRNA stability GO:0044830 modulation by host of viral RNA genome replication GO:0045727 positive regulation of translation GO:0045947 negative regulation of translational initiation GO:0046928 regulation of neurotransmitter secretion GO:0051028 mRNA transport GO:0051489 regulation of filopodium assembly GO:0051491 positive regulation of filopodium assembly GO:0060964 regulation of gene silencing by miRNA GO:0060998 regulation of dendritic spine development GO:0060999 positive regulation of dendritic spine development GO:0072711 cellular response to hydroxyurea GO:0098586 cellular response to virus GO:0098908 regulation of neuronal action potential GO:1900453 negative regulation of long term synaptic depression GO:1901254 positive regulation of intracellular transport of viral material GO:1901386 negative regulation of voltage-gated calcium channel activity GO:1901800 positive regulation of proteasomal protein catabolic process GO:1902373 negative regulation of mRNA catabolic process GO:1902416 positive regulation of mRNA binding GO:2000301 negative regulation of synaptic vesicle exocytosis GO:2000637 positive regulation of gene silencing by miRNA GO:2000766 negative regulation of cytoplasmic translation GO:2001022 positive regulation of response to DNA damage stimulus
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
