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Aliases for FMR1 Gene

Aliases for FMR1 Gene

  • Fragile X Mental Retardation 1 2 3 5
  • Fragile X Mental Retardation Protein 1 3 4
  • FMRP 3 4
  • Synaptic Functional Regulator FMR1 3
  • Premature Ovarian Failure 1 2
  • Protein FMR-1 4
  • FRAXA 3
  • POF1 3
  • POF 3

External Ids for FMR1 Gene

Previous HGNC Symbols for FMR1 Gene

  • POF1
  • POF

Previous GeneCards Identifiers for FMR1 Gene

  • GC0XP141519
  • GC0XP143827
  • GC0XP144850
  • GC0XP145661
  • GC0XP146699
  • GC0XP146801
  • GC0XP146993
  • GC0XP135963

Summaries for FMR1 Gene

Entrez Gene Summary for FMR1 Gene

  • The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for FMR1 Gene

FMR1 (Fragile X Mental Retardation 1) is a Protein Coding gene. Diseases associated with FMR1 include Fragile X Syndrome and Fragile X Tremor/Ataxia Syndrome. Among its related pathways are Neuroscience and RNA transport. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is FXR1.

UniProtKB/Swiss-Prot for FMR1 Gene

  • Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic local protein synthesis of a subset of mRNAs (PubMed:16631377, PubMed:18653529, PubMed:19166269, PubMed:23235829, PubMed:25464849). Plays a role in the alternative splicing of its own mRNA (PubMed:18653529). Plays a role in mRNA nuclear export (By similarity). Together with export factor NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons (By similarity). Stabilizes the scaffolding postsynaptic density protein DLG4/PSD-95 and the myelin basic protein (MBP) mRNAs in hippocampal neurons and glial cells, respectively; this stabilization is further increased in response to metabotropic glutamate receptor (mGluR) stimulation (By similarity). Plays a role in selective delivery of a subset of dendritic mRNAs to synaptic sites in response to mGluR activation in a kinesin-dependent manner (By similarity). Plays a role as a repressor of mRNA translation during the transport of dendritic mRNAs to postnyaptic dendritic spines (PubMed:11532944, PubMed:11157796, PubMed:12594214, PubMed:23235829). Component of the CYFIP1-EIF4E-FMR1 complex which blocks cap-dependent mRNA translation initiation (By similarity). Represses mRNA translation by stalling ribosomal translocation during elongation (By similarity). Reports are contradictory with regards to its ability to mediate translation inhibition of MBP mRNA in oligodendrocytes (PubMed:23891804). Also involved in the recruitment of the RNA helicase MOV10 to a subset of mRNAs and hence regulates microRNA (miRNA)-mediated translational repression by AGO2 (PubMed:14703574, PubMed:17057366, PubMed:25464849). Facilitates the assembly of miRNAs on specific target mRNAs (PubMed:17057366). Plays also a role as an activator of mRNA translation of a subset of dendritic mRNAs at synapses (PubMed:19097999, PubMed:19166269). In response to mGluR stimulation, FMR1-target mRNAs are rapidly derepressed, allowing for local translation at synapses (By similarity). Binds to a large subset of dendritic mRNAs that encode a myriad of proteins involved in pre- and postsynaptic functions (PubMed:7692601, PubMed:11719189, PubMed:11157796, PubMed:12594214, PubMed:17417632, PubMed:23235829, PubMed:24448548). Binds to 5-ACU[GU]-3 and/or 5-[AU]GGA-3 RNA consensus sequences within mRNA targets, mainly at coding sequence (CDS) and 3-untranslated region (UTR) and less frequently at 5-UTR (PubMed:23235829). Binds to intramolecular G-quadruplex structures in the 5- or 3-UTRs of mRNA targets (PubMed:11719189, PubMed:18579868, PubMed:25464849, PubMed:25692235). Binds to G-quadruplex structures in the 3-UTR of its own mRNA (PubMed:7692601, PubMed:11532944, PubMed:12594214, PubMed:15282548, PubMed:18653529). Binds also to RNA ligands harboring a kissing complex (kc) structure; this binding may mediate the association of FMR1 with polyribosomes (PubMed:15805463). Binds mRNAs containing U-rich target sequences (PubMed:12927206). Binds to a triple stem-loop RNA structure, called Sod1 stem loop interacting with FMRP (SoSLIP), in the 5-UTR region of superoxide dismutase SOD1 mRNA (PubMed:19166269). Binds to the dendritic, small non-coding brain cytoplasmic RNA 1 (BC1); which may increase the association of the CYFIP1-EIF4E-FMR1 complex to FMR1 target mRNAs at synapses (By similarity). Associates with export factor NXF1 mRNA-containing ribonucleoprotein particles (mRNPs) in a NXF2-dependent manner (By similarity). Binds to a subset of miRNAs in the brain (PubMed:14703574, PubMed:17057366). May associate with nascent transcripts in a nuclear protein NXF1-dependent manner (PubMed:18936162). In vitro, binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:7688265, PubMed:7781595, PubMed:12950170, PubMed:15381419, PubMed:8156595). Moreover, plays a role in the modulation of the sodium-activated potassium channel KCNT1 gating activity (PubMed:20512134). Negatively regulates the voltage-dependent calcium channel current density in soma and presynaptic terminals of dorsal root ganglion (DRG) neurons, and hence regulates synaptic vesicle exocytosis (By similarity). Modulates the voltage-dependent calcium channel CACNA1B expression at the plasma membrane by targeting the channels for proteosomal degradation (By similarity). Plays a role in regulation of MAP1B-dependent microtubule dynamics during neuronal development (By similarity). Recently, has been shown to play a translation-independent role in the modulation of presynaptic action potential (AP) duration and neurotransmitter release via large-conductance calcium-activated potassium (BK) channels in hippocampal and cortical excitatory neurons (PubMed:25561520). Finally, FMR1 may be involved in the control of DNA damage response (DDR) mechanisms through the regulation of ATR-dependent signaling pathways such as histone H2AFX/H2A.x and BRCA1 phosphorylations (PubMed:24813610).

  • Isoform 10: binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304). May bind to RNA in Cajal bodies (PubMed:24204304).

  • Isoform 6: binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304). May bind to RNA in Cajal bodies (PubMed:24204304).

  • (Microbial infection) Acts as a positive regulator of influenza A virus (IAV) replication. Required for the assembly and nuclear export of the viral ribonucleoprotein (vRNP) components.

Gene Wiki entry for FMR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FMR1 Gene

Genomics for FMR1 Gene

Regulatory Elements for FMR1 Gene

Enhancers for FMR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around FMR1 on UCSC Golden Path with GeneCards custom track

Promoters for FMR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FMR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FMR1 Gene

Chromosome:
X
Start:
147,911,951 bp from pter
End:
147,951,127 bp from pter
Size:
39,177 bases
Orientation:
Plus strand

Genomic View for FMR1 Gene

Genes around FMR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FMR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FMR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FMR1 Gene

Proteins for FMR1 Gene

  • Protein details for FMR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06787-FMR1_HUMAN
    Recommended name:
    Synaptic functional regulator FMR1
    Protein Accession:
    Q06787
    Secondary Accessions:
    • A6NNH4
    • D3DWT0
    • D3DWT1
    • D3DWT2
    • G8JL90
    • Q16578
    • Q5PQZ6
    • Q99054

    Protein attributes for FMR1 Gene

    Size:
    632 amino acids
    Molecular mass:
    71174 Da
    Quaternary structure:
    • Homodimer (PubMed:7489725, PubMed:12950170, PubMed:16636078). Forms heterodimer with FXR1; heterodimerization occurs in a methylation-dependent manner (PubMed:7489725, PubMed:11157796, PubMed:16636078). Forms heterodimer with FXR2 (PubMed:7489725, PubMed:11157796). Homooligomer (PubMed:11157796, PubMed:18664458). Component of the CYFIP1-EIF4E-FMR1 complex at least composed of CYFIP, EIF4E and FMR1; this mRNA cap binding complex formation increases in presence of the brain cytoplasmic RNA BC1 and is dynamically regulated in an activity-dependent manner to repress and then possibly release dendritic mRNAs for translation in response to mGluR stimulation (By similarity). Associates with the SMN core complex that contains SMN, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP (PubMed:18093976). Part of a ribonucleoprotein complex with AGO2/EIF2C2 and miRNAs (PubMed:14703574). Interacts with AGO2/EIF2C2 (PubMed:14703574). Interacts (via C-terminus) with CACNA1B; this interaction induces a deacrease in the number of presynaptic functional CACNA1B channels at the cell surface (By similarity). Interacts with CYFIP1; this interaction recruits CYFIP1 to capped mRNA (By similarity). Interacts with CYFIP2 (By similarity). Interacts with EIF5; this interaction occurs in a RNA-dependent manner (By similarity). Interacts with dynein (By similarity). Interacts with FXR1 and FXR2 (PubMed:8668200, PubMed:14532325, PubMed:15380484). Interacts with methylated histone H3 (PubMed:24813610). Interacts with IGF2BP1; this interaction allows to recruit IGF2BP1 to mRNA in a FMR1-dependent manner (PubMed:15282548). Interacts (via N-terminus) with KCNMB4 (PubMed:25561520). Interacts with KCNT1 (via C-terminus); this interaction alters gating properties of KCNT1 (PubMed:20512134). Interacts (via phosphorylated form) with MCRS1 (via N-terminus) (PubMed:16571602). Interacts with MOV10; this interaction is direct, occurs in an RNA-dependent manner on polysomes and induces association of MOV10 with RNAs (PubMed:25464849). Interacts with MYO5A and PURA; these interactions occur in association with polyribosome (By similarity). Interacts with NCL (By similarity). Interacts with NUFIP1 (PubMed:10556305). Interacts (via N-terminus) with NUFIP2 (PubMed:12837692, PubMed:16407062). Interacts with NXF1; this interaction occurs in a mRNA-dependent and polyribosome-independent manner in the nucleus (PubMed:18936162). Interacts with NXF2 (via N-terminus); this interaction is direct and occurs in a NXF1 mRNA-containing mRNP complexes (By similarity). Interacts with RANBP9 (via C-terminus); this interaction is direct and inhibits binding of FMR1 to RNA homopolymer (PubMed:15381419). Interacts with RPLP0 (PubMed:15380484). Interacts (via C-terminus) with SMN (via C-terminus); this interaction is direct and occurs in a RNA-independent manner (PubMed:18093976). Interacts with TDRD3 (via C-terminus); this interaction is direct (PubMed:18632687, PubMed:18664458). Interacts with YBX1; this interaction occurs in association with polyribosome (By similarity). Interacts with nucleosome (PubMed:24813610). Associates with polyribosome; this association occurs in a mRNA-dependent manner (PubMed:9659908, PubMed:11719188, PubMed:12594214, PubMed:19097999, PubMed:24448548). Associates with cytoplasmic messenger ribonucleoprotein particles (mRNPs) (PubMed:7692601, PubMed:9659908, PubMed:12575950, PubMed:19097999). Associates with microtubules in a kinesin- and dynein-dependent manner (By similarity). Isoform 6 interacts (via N-terminus) with NCL (via C-terminus) (PubMed:24658146). Isoform 6 interacts with CYFIP2; this interaction occurs in a RNA-dependent manner (PubMed:24658146). Isoform 6 interacts with EIF5; this interaction occurs in a RNA-dependent manner (PubMed:24658146). Isoform 6 interacts with RPLP0 (PubMed:24658146).
    • (Microbial infection) Interacts (via KH 2 domain) with influenza A nucleoprotein (NP); this interaction occurs in a RNA-dependent manner and stimulates viral ribonucleoprotein (vRNP) assembly and subsequent RNA synthesis.
    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.
    SequenceCaution:
    • Sequence=AAA52458.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAA62466.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAA62467.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FMR1 Gene

    Alternative splice isoforms for FMR1 Gene

neXtProt entry for FMR1 Gene

Post-translational modifications for FMR1 Gene

  • Isoform 10: Undergoes proteolytic cleavage; may be specifically cleaved by calpain-1/CAPN1 in cajal bodies (PubMed:24204304).
  • Methylated; methylation is necessary for heterodimerization with FXR1, association with polyribosomes, recruitment into stress granules and translation of FMR1 target mRNAs (PubMed:16636078). Methylated by PRMT1, PRMT3 and PRMT4, in vitro (PubMed:16922515).
  • Monoubiquitinated. Polyubiquitinated. Ubiquitinated and targeted for proteasomal degradation after activation of metabotropic glutamate receptor (mGluR).
  • Phosphorylated (PubMed:14532325). Phosphorylated on several serine residues. Phosphorylation at Ser-500 is required for phosphorylation of other nearby serine residues. Phosphorylation has no effect on the binding of individual mRNA species, but may affect the association with polyribosome. Unphosphorylated FMR1 is associated with actively translating polyribosome, whereas a fraction of phosphorylated FMR1 is associated with apparently stalled polyribosome. Dephosphorylation by an activated phosphatase may release the FMR1-mediated translational repression and allow synthesis of a locally required protein at snypases (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FMR1 Gene

Domains & Families for FMR1 Gene

Protein Domains for FMR1 Gene

Suggested Antigen Peptide Sequences for FMR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q06787

UniProtKB/Swiss-Prot:

FMR1_HUMAN :
  • The N-terminal 134 amino acids are necessary for homodimerization and RNA-binding (PubMed:12950170). The N-terminal 298 amino acids are sufficient to interact with KCNMB4 and to regulate presynaptic action potential (AP) duration in neurons (PubMed:25561520). The two agenet-like domains are necessary for binding to histone H3 in a methylation-dependent manner (PubMed:24813610). The KH domains are necessary for mediating miRNA annealing to specific RNA targets (PubMed:17057366). The KH 2 domain is necessary for binding to kissing complex (kc) RNA ligands (PubMed:15805463). The RGG box domain is necessary for binding to mRNA targets that contain G-quadruplex structures (PubMed:11719189, PubMed:18579868, PubMed:25692235). The RGG-box domain is necessary for binding to a triple stem-loop RNA structure, called Sod1 stem loop interacting with FMRP (SoSLIP), in the superoxide dismutase SOD1 mRNA (PubMed:19166269). The RGG box domain is necessary for binding to its own mRNA (PubMed:11532944). The RGG-box domain is necessary for binding to homopolymer poly(G) (PubMed:14532325).
  • Belongs to the FMR1 family.
Domain:
  • The N-terminal 134 amino acids are necessary for homodimerization and RNA-binding (PubMed:12950170). The N-terminal 298 amino acids are sufficient to interact with KCNMB4 and to regulate presynaptic action potential (AP) duration in neurons (PubMed:25561520). The two agenet-like domains are necessary for binding to histone H3 in a methylation-dependent manner (PubMed:24813610). The KH domains are necessary for mediating miRNA annealing to specific RNA targets (PubMed:17057366). The KH 2 domain is necessary for binding to kissing complex (kc) RNA ligands (PubMed:15805463). The RGG box domain is necessary for binding to mRNA targets that contain G-quadruplex structures (PubMed:11719189, PubMed:18579868, PubMed:25692235). The RGG-box domain is necessary for binding to a triple stem-loop RNA structure, called Sod1 stem loop interacting with FMRP (SoSLIP), in the superoxide dismutase SOD1 mRNA (PubMed:19166269). The RGG box domain is necessary for binding to its own mRNA (PubMed:11532944). The RGG-box domain is necessary for binding to homopolymer poly(G) (PubMed:14532325).
  • Isoform 10: The C-terminal region contains a Cajal body localization signal at positions 490 through 506 (PubMed:24204304).
  • Contains 2 Agenet-like domains.
  • Contains 2 KH domains.
Family:
  • Belongs to the FMR1 family.
genes like me logo Genes that share domains with FMR1: view

No data available for Gene Families for FMR1 Gene

Function for FMR1 Gene

Molecular function for FMR1 Gene

GENATLAS Biochemistry:
FRAXA syndrome nucleocytoplasmic shuttling protein with a 5utr polymorphic CGG repeat homodimerizing and heterodimerizing with FXR1,FXR2 (see symbols),expressed in fetal and adult brain and testis
UniProtKB/Swiss-Prot Function:
Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic local protein synthesis of a subset of mRNAs (PubMed:16631377, PubMed:18653529, PubMed:19166269, PubMed:23235829, PubMed:25464849). Plays a role in the alternative splicing of its own mRNA (PubMed:18653529). Plays a role in mRNA nuclear export (By similarity). Together with export factor NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons (By similarity). Stabilizes the scaffolding postsynaptic density protein DLG4/PSD-95 and the myelin basic protein (MBP) mRNAs in hippocampal neurons and glial cells, respectively; this stabilization is further increased in response to metabotropic glutamate receptor (mGluR) stimulation (By similarity). Plays a role in selective delivery of a subset of dendritic mRNAs to synaptic sites in response to mGluR activation in a kinesin-dependent manner (By similarity). Plays a role as a repressor of mRNA translation during the transport of dendritic mRNAs to postnyaptic dendritic spines (PubMed:11532944, PubMed:11157796, PubMed:12594214, PubMed:23235829). Component of the CYFIP1-EIF4E-FMR1 complex which blocks cap-dependent mRNA translation initiation (By similarity). Represses mRNA translation by stalling ribosomal translocation during elongation (By similarity). Reports are contradictory with regards to its ability to mediate translation inhibition of MBP mRNA in oligodendrocytes (PubMed:23891804). Also involved in the recruitment of the RNA helicase MOV10 to a subset of mRNAs and hence regulates microRNA (miRNA)-mediated translational repression by AGO2 (PubMed:14703574, PubMed:17057366, PubMed:25464849). Facilitates the assembly of miRNAs on specific target mRNAs (PubMed:17057366). Plays also a role as an activator of mRNA translation of a subset of dendritic mRNAs at synapses (PubMed:19097999, PubMed:19166269). In response to mGluR stimulation, FMR1-target mRNAs are rapidly derepressed, allowing for local translation at synapses (By similarity). Binds to a large subset of dendritic mRNAs that encode a myriad of proteins involved in pre- and postsynaptic functions (PubMed:7692601, PubMed:11719189, PubMed:11157796, PubMed:12594214, PubMed:17417632, PubMed:23235829, PubMed:24448548). Binds to 5-ACU[GU]-3 and/or 5-[AU]GGA-3 RNA consensus sequences within mRNA targets, mainly at coding sequence (CDS) and 3-untranslated region (UTR) and less frequently at 5-UTR (PubMed:23235829). Binds to intramolecular G-quadruplex structures in the 5- or 3-UTRs of mRNA targets (PubMed:11719189, PubMed:18579868, PubMed:25464849, PubMed:25692235). Binds to G-quadruplex structures in the 3-UTR of its own mRNA (PubMed:7692601, PubMed:11532944, PubMed:12594214, PubMed:15282548, PubMed:18653529). Binds also to RNA ligands harboring a kissing complex (kc) structure; this binding may mediate the association of FMR1 with polyribosomes (PubMed:15805463). Binds mRNAs containing U-rich target sequences (PubMed:12927206). Binds to a triple stem-loop RNA structure, called Sod1 stem loop interacting with FMRP (SoSLIP), in the 5-UTR region of superoxide dismutase SOD1 mRNA (PubMed:19166269). Binds to the dendritic, small non-coding brain cytoplasmic RNA 1 (BC1); which may increase the association of the CYFIP1-EIF4E-FMR1 complex to FMR1 target mRNAs at synapses (By similarity). Associates with export factor NXF1 mRNA-containing ribonucleoprotein particles (mRNPs) in a NXF2-dependent manner (By similarity). Binds to a subset of miRNAs in the brain (PubMed:14703574, PubMed:17057366). May associate with nascent transcripts in a nuclear protein NXF1-dependent manner (PubMed:18936162). In vitro, binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:7688265, PubMed:7781595, PubMed:12950170, PubMed:15381419, PubMed:8156595). Moreover, plays a role in the modulation of the sodium-activated potassium channel KCNT1 gating activity (PubMed:20512134). Negatively regulates the voltage-dependent calcium channel current density in soma and presynaptic terminals of dorsal root ganglion (DRG) neurons, and hence regulates synaptic vesicle exocytosis (By similarity). Modulates the voltage-dependent calcium channel CACNA1B expression at the plasma membrane by targeting the channels for proteosomal degradation (By similarity). Plays a role in regulation of MAP1B-dependent microtubule dynamics during neuronal development (By similarity). Recently, has been shown to play a translation-independent role in the modulation of presynaptic action potential (AP) duration and neurotransmitter release via large-conductance calcium-activated potassium (BK) channels in hippocampal and cortical excitatory neurons (PubMed:25561520). Finally, FMR1 may be involved in the control of DNA damage response (DDR) mechanisms through the regulation of ATR-dependent signaling pathways such as histone H2AFX/H2A.x and BRCA1 phosphorylations (PubMed:24813610).
UniProtKB/Swiss-Prot Function:
Isoform 10: binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304). May bind to RNA in Cajal bodies (PubMed:24204304).
UniProtKB/Swiss-Prot Function:
Isoform 6: binds to RNA homopolymer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304). May bind to RNA in Cajal bodies (PubMed:24204304).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a positive regulator of influenza A virus (IAV) replication. Required for the assembly and nuclear export of the viral ribonucleoprotein (vRNP) components.
UniProtKB/Swiss-Prot Induction:
(Microbial infection) Up-regulated in response to infection by influenza A virus.

Gene Ontology (GO) - Molecular Function for FMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002151 G-quadruplex RNA binding IDA 18653529
GO:0003682 chromatin binding ISS --
GO:0003723 RNA binding IDA 15381419
GO:0003729 mRNA binding IDA 11157796
GO:0003730 mRNA 3-UTR binding IDA 17417632
genes like me logo Genes that share ontologies with FMR1: view
genes like me logo Genes that share phenotypes with FMR1: view

Human Phenotype Ontology for FMR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FMR1 Gene

MGI Knock Outs for FMR1:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for FMR1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FMR1 Gene

Localization for FMR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FMR1 Gene

Nucleus. Nucleus, nucleolus. Chromosome, centromere. Chromosome. Cytoplasm. Cytoplasm, perinuclear region. Cytoplasmic granule. Perikaryon. Cell projection. Cell projection, axon. Cell projection, dendrite. Cell projection, dendritic spine. Cell junction, synapse, synaptosome. Cell projection, growth cone. Cell projection, filopodium tip. Cell junction, synapse. Cell junction, synapse, postsynaptic cell membrane. Cell junction, synapse, presynaptic cell membrane. Cell membrane. Note=Colocalizes with H2AFX/H2A.x in pericentromeric heterochromatin in response to DNA damaging agents (By similarity). Localizes on meiotic pachytene-stage chromosomes (By similarity). Forms nuclear foci representing sites of ongoing DNA replication in response to DNA damaging agents (By similarity). Shuttles between nucleus and cytoplasm in a XPO1/CRM1-dependent manner (PubMed:10196376). Localizes to cytoplasmic granules, also referred to as messenger ribonucleoprotein particles or mRNPs, along dendrites and dendritic spines (PubMed:9659908, PubMed:14532325). FMR1-containing cytoplasmic granules colocalize to F-actin-rich structures, including filopodium, spines and growth cone during the development of hippocampal neurons (By similarity). FMR1-containing cytoplasmic granules are transported out of the soma along axon and dendrite to synaptic contacts in a microtubule- and kinesin-dependent manner (PubMed:12417734, PubMed:15380484). Colocalizes with CACNA1B in the cytoplasm and at the cell membrane of neurons (By similarity). Colocalizes with CYFIP1, CYFIP2, NXF2 and ribosomes in the perinuclear region (By similarity). Colocalizes with CYFIP1 and EIF4E in dendrites and probably at synapses (By similarity). Colocalizes with FXR1, kinesin, 60S acidic ribosomal protein RPLP0 and SMN in cytoplasmic granules in the soma and neurite cell processes (PubMed:12417734, PubMed:18093976, PubMed:16636078). Colocalizes with FXR1 and FXR2 in discrete granules, called fragile X granules (FXGs), along axon and presynaptic compartments (By similarity). Colocalizes with TDRD3 in cytoplasmic stress granules (SGs) in response to various cellular stress (PubMed:18632687, PubMed:18664458, PubMed:16636078). {ECO:0000250 UniProtKB:P35922, ECO:0000250 UniProtKB:Q80WE1, ECO:0000269 PubMed:10196376, ECO:0000269 PubMed:12417734, ECO:0000269 PubMed:14532325, ECO:0000269 PubMed:15380484, ECO:0000269 PubMed:16636078, ECO:0000269 PubMed:18093976, ECO:0000269 PubMed:18632687, ECO:0000269 PubMed:18664458, ECO:0000269 PubMed:9659908}.
Isoform 6: Cytoplasm. Cytoplasm, perinuclear region.
Isoform 9: Cytoplasm.
Isoform 10: Nucleus. Nucleus, Cajal body. Note=Colocalizes with Colin and SMN in Cajal bodies (PubMed:24204304).
Isoform 11: Nucleus. Nucleus, Cajal body.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FMR1 Gene COMPARTMENTS Subcellular localization image for FMR1 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA 16571602
GO:0005694 chromosome ISS --
GO:0005730 nucleolus TAS 16407062
genes like me logo Genes that share ontologies with FMR1: view

Pathways & Interactions for FMR1 Gene

genes like me logo Genes that share pathways with FMR1: view

Pathways by source for FMR1 Gene

2 Cell Signaling Technology pathways for FMR1 Gene
1 KEGG pathway for FMR1 Gene

Gene Ontology (GO) - Biological Process for FMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IDA 18653529
GO:0002092 positive regulation of receptor internalization IDA 25561520
GO:0006397 mRNA processing IEA --
GO:0006974 cellular response to DNA damage stimulus IDA 24813610
GO:0007215 glutamate receptor signaling pathway ISS --
genes like me logo Genes that share ontologies with FMR1: view

No data available for SIGNOR curated interactions for FMR1 Gene

Drugs & Compounds for FMR1 Gene

(11) Drugs for FMR1 Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lovastatin Approved, Investigational Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor 60
Minocycline Approved, Investigational Pharma 216

(20) Additional Compounds for FMR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FMR1: view

Transcripts for FMR1 Gene

Unigene Clusters for FMR1 Gene

Fragile X mental retardation 1:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for FMR1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FMR1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^
SP1: - -
SP2: -
SP3: -
SP4: -
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 17a · 17b · 17c · 17d ^ 18 ^ 19 ^ 20a · 20b · 20c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7: - -
SP8:
SP9:
SP10:
SP11: -

Relevant External Links for FMR1 Gene

GeneLoc Exon Structure for
FMR1
ECgene alternative splicing isoforms for
FMR1

Expression for FMR1 Gene

mRNA expression in normal human tissues for FMR1 Gene

Protein differential expression in normal tissues from HIPED for FMR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.7), Lung (14.9), and Fetal ovary (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FMR1 Gene



Protein tissue co-expression partners for FMR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FMR1 Gene:

FMR1

SOURCE GeneReport for Unigene cluster for FMR1 Gene:

Hs.103183

mRNA Expression by UniProt/SwissProt for FMR1 Gene:

Q06787-FMR1_HUMAN
Tissue specificity: Expressed in the brain, cerebellum and testis (PubMed:8401578). Also expressed in epithelial tissues (PubMed:8401578). Expressed in mature oligodendrocytes (OLGs) (PubMed:23891804). Expressed in fibroblast (PubMed:24204304). Expressed in neurons, Purkinje cells and spermatogonias (at protein level) (PubMed:8401578). Expressed in brain, testis and placenta (PubMed:8504300). Expressed in neurons and lymphocytes (PubMed:8504300).
genes like me logo Genes that share expression patterns with FMR1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FMR1 Gene

Orthologs for FMR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FMR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FMR1 34
  • 94.83 (n)
  • 96.2 (a)
FMR1 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FMR1 34
  • 95.83 (n)
  • 97.47 (a)
FMR1 35
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fmr1 34
  • 95.06 (n)
  • 96.91 (a)
Fmr1 16
Fmr1 35
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FMR1 34
  • 99.63 (n)
  • 99.84 (a)
FMR1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fmr1 34
  • 94.72 (n)
  • 97.25 (a)
oppossum
(Monodelphis domestica)
Mammalia FMR1 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FMR1 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves FMR1 34
  • 84.74 (n)
  • 89.82 (a)
FMR1 35
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FMR1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fmr1 34
  • 77.91 (n)
  • 85.41 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 34
fmr1 34
  • 69.37 (n)
  • 71.83 (a)
fmr1 35
  • 72 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13155 34
fruit fly
(Drosophila melanogaster)
Insecta Fmr1 36
  • 45 (a)
Fmr1 34
  • 53.81 (n)
  • 49.65 (a)
Fmr1 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToMany
Species where no ortholog for FMR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FMR1 Gene

ENSEMBL:
Gene Tree for FMR1 (if available)
TreeFam:
Gene Tree for FMR1 (if available)

Paralogs for FMR1 Gene

Paralogs for FMR1 Gene

genes like me logo Genes that share paralogs with FMR1: view

Variants for FMR1 Gene

Sequence variations from dbSNP and Humsavar for FMR1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_005234 Fragile X syndrome (FRAX)
VAR_005235 -
rs29281 - 147,929,961(+) AAGAG(G/T)CGGCA nc-transcript-variant, reference, missense
VAR_064507 Fragile X syndrome (FRAX)
VAR_075977 Fragile X syndrome (FRAX)

Structural Variations from Database of Genomic Variants (DGV) for FMR1 Gene

Variant ID Type Subtype PubMed ID
dgv2506e212 CNV loss 25503493
esv2758899 CNV gain 17122850
esv3574912 CNV loss 25503493
nsv473097 CNV novel sequence insertion 20440878
nsv7141 CNV deletion 18451855

Variation tolerance for FMR1 Gene

Residual Variation Intolerance Score: 69.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.12; 38.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FMR1 Gene

Human Gene Mutation Database (HGMD)
FMR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FMR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FMR1 Gene

Disorders for FMR1 Gene

MalaCards: The human disease database

(26) MalaCards diseases for FMR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fragile x syndrome
  • fragile x mental retardation syndrome
fragile x tremor/ataxia syndrome
  • fragile x-associated tremor/ataxia syndrome
premature ovarian failure 1
  • primary ovarian insufficiency
fragile x-associated tremor/ataxia syndrome
  • fxtas syndrome
fragile x-associated primary ovarian insufficiency
  • fmr1-related primary ovarian insufficiency
- elite association - COSMIC cancer census association via MalaCards
Search FMR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FMR1_HUMAN
  • Fragile X syndrome (FRAX) [MIM:300624]: 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. {ECO:0000269 PubMed:24448548, ECO:0000269 PubMed:25561520, ECO:0000269 PubMed:7688265, ECO:0000269 PubMed:8401578, ECO:0000269 PubMed:8490650}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:11445641}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Premature ovarian failure 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. {ECO:0000269 PubMed:9719368}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FMR1

Genetic Association Database (GAD)
FMR1
Human Genome Epidemiology (HuGE) Navigator
FMR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FMR1
genes like me logo Genes that share disorders with FMR1: view

No data available for Genatlas for FMR1 Gene

Publications for FMR1 Gene

  1. Translational regulation of the human achaete-scute homologue-1 by fragile X mental retardation protein. (PMID: 19097999) FAohling M. … Scholz H. (J. Biol. Chem. 2009) 3 4 22 65
  2. Screening for the presence of FMR1 premutation alleles in women with parkinsonism. (PMID: 19204162) Cilia R. … Tassone F. (Arch. Neurol. 2009) 3 22 46 65
  3. The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer. (PMID: 18653529) Didiot M.C. … Moine H. (Nucleic Acids Res. 2008) 3 4 22 65
  4. Methylation regulates the intracellular protein-protein and protein-RNA interactions of FMRP. (PMID: 16636078) Dolzhanskaya N. … Denman R.B. (J. Cell. Sci. 2006) 3 4 22 65
  5. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. (PMID: 16184602) Hessl D. … Hagerman R.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2005) 3 22 46 65

Products for FMR1 Gene

Sources for FMR1 Gene

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