FMR1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0099577Biological processregulation of translation at presynapse, modulating synaptic transmission
GO_0006281Biological processDNA repair
GO_0000381Biological processregulation of alternative mRNA splicing, via spliceosome
GO_0048513Biological processanimal organ development
GO_0060998Biological processregulation of dendritic spine development
GO_1901800Biological processpositive regulation of proteasomal protein catabolic process
GO_0006397Biological processmRNA processing
GO_0034063Biological processstress granule assembly
GO_0044830Biological processmodulation by host of viral RNA genome replication
GO_2000766Biological processnegative regulation of cytoplasmic translation
GO_0046928Biological processregulation of neurotransmitter secretion
GO_0051491Biological processpositive regulation of filopodium assembly
GO_0045727Biological processpositive regulation of translation
GO_0007399Biological processnervous system development
GO_0051489Biological processregulation of filopodium assembly
GO_0140694Biological processnon-membrane-bounded organelle assembly
GO_2000301Biological processnegative regulation of synaptic vesicle exocytosis
GO_0051028Biological processmRNA transport
GO_1901386Biological processnegative regulation of voltage-gated calcium channel activity
GO_1901254Biological processpositive regulation of intracellular transport of viral material
GO_0008380Biological processRNA splicing
GO_0031047Biological processregulatory ncRNA-mediated gene silencing
GO_0060999Biological processpositive regulation of dendritic spine development
GO_0017148Biological processnegative regulation of translation
GO_2000637Biological processpositive regulation of miRNA-mediated gene silencing
GO_0048170Biological processpositive regulation of long-term neuronal synaptic plasticity
GO_0043488Biological processregulation of mRNA stability
GO_0002092Biological processpositive regulation of receptor internalization
GO_0098908Biological processregulation of neuronal action potential
GO_0006406Biological processmRNA export from nucleus
GO_0098586Biological processcellular response to virus
GO_0060965Biological processnegative regulation of miRNA-mediated gene silencing
GO_0045947Biological processnegative regulation of translational initiation
GO_1900453Biological processnegative regulation of long-term synaptic depression
GO_0007215Biological processglutamate receptor signaling pathway
GO_0000775Cellular componentchromosome, centromeric region
GO_0098793Cellular componentpresynapse
GO_0043679Cellular componentaxon terminus
GO_0098794Cellular componentpostsynapse
GO_0043005Cellular componentneuron projection
GO_0071598Cellular componentneuronal ribonucleoprotein granule
GO_0045211Cellular componentpostsynaptic membrane
GO_1990812Cellular componentgrowth cone filopodium
GO_0005694Cellular componentchromosome
GO_0010494Cellular componentcytoplasmic stress granule
GO_0005634Cellular componentnucleus
GO_0005730Cellular componentnucleolus
GO_0005654Cellular componentnucleoplasm
GO_0042734Cellular componentpresynaptic membrane
GO_0030425Cellular componentdendrite
GO_1990904Cellular componentribonucleoprotein complex
GO_0032797Cellular componentSMN complex
GO_0016020Cellular componentmembrane
GO_0043204Cellular componentperikaryon
GO_0032433Cellular componentfilopodium tip
GO_0043232Cellular componentintracellular non-membrane-bounded organelle
GO_0014069Cellular componentpostsynaptic density
GO_0005737Cellular componentcytoplasm
GO_0015030Cellular componentCajal body
GO_0030424Cellular componentaxon
GO_0097386Cellular componentglial cell projection
GO_1902737Cellular componentdendritic filopodium
GO_0010369Cellular componentchromocenter
GO_0043197Cellular componentdendritic spine
GO_0048471Cellular componentperinuclear region of cytoplasm
GO_0036464Cellular componentcytoplasmic ribonucleoprotein granule
GO_0005829Cellular componentcytosol
GO_0045202Cellular componentsynapse
GO_0030426Cellular componentgrowth cone
GO_0042995Cellular componentcell projection
GO_0043022Molecular functionribosome binding
GO_0045182Molecular functiontranslation regulator activity
GO_0042802Molecular functionidentical protein binding
GO_0140693Molecular functionmolecular condensate scaffold activity
GO_0046982Molecular functionprotein heterodimerization activity
GO_0002151Molecular functionG-quadruplex RNA binding
GO_0031369Molecular functiontranslation initiation factor binding
GO_0003682Molecular functionchromatin binding
GO_0003730Molecular functionmRNA 3'-UTR binding
GO_0030371Molecular functiontranslation repressor activity
GO_0034046Molecular functionpoly(G) binding
GO_0035197Molecular functionsiRNA binding
GO_0003729Molecular functionmRNA binding
GO_0035591Molecular functionsignaling adaptor activity
GO_1990247Molecular functionN6-methyladenosine-containing RNA reader activity
GO_0044325Molecular functiontransmembrane transporter binding
GO_0003723Molecular functionRNA binding
GO_0035198Molecular functionmiRNA binding
GO_0005515Molecular functionprotein binding
GO_0035064Molecular functionmethylated histone binding
GO_0042803Molecular functionprotein homodimerization activity
GO_1990825Molecular functionsequence-specific mRNA binding
GO_0048027Molecular functionmRNA 5'-UTR binding
GO_0008266Molecular functionpoly(U) RNA binding
GO_0033592Molecular functionRNA strand annealing activity
GO_0008017Molecular functionmicrotubule binding
GO_0070840Molecular functiondynein complex binding
GO_0035613Molecular functionRNA stem-loop binding

IV. Literature review

[source]
Gene nameFMR1
Protein nameFragile X mental retardation 1 isoform A
FMR1
Fragile X mental retardation 1
Fragile X mental retardation 1, isoform CRA_e (Fragile X messenger ribonucleoprotein 1)
FMR1 protein (Fragile X messenger ribonucleoprotein 1) (Truncated FMRP)
Fragile X mental retardation 1 isoform C (Fragile X mental retardation 1, isoform CRA_g)
Fragile X messenger ribonucleoprotein 1 (Fragile X messenger ribonucleoprotein) (FMRP) (Protein FMR-1)
Fragile X messenger ribonucleoprotein 1
Fragile X mental retardation 1 protein
SynonymshCG_18633
DescriptionFUNCTION: 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 target mRNAs . Acts as an mRNA regulator by mediating formation of some phase-separated membraneless compartment: undergoes liquid-liquid phase separation upon binding to target mRNAs, leading to assemble mRNAs into cytoplasmic ribonucleoprotein granules that concentrate mRNAs with associated regulatory factors . Plays a role in the alternative splicing of its own mRNA . 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). Undergoes liquid-liquid phase separation following phosphorylation and interaction with CAPRIN1, promoting formation of cytoplasmic ribonucleoprotein granules that concentrate mRNAs with factors that inhibit translation and mediate deadenylation of target mRNAs . Acts as a repressor of mRNA translation in synaptic regions by mediating formation of neuronal ribonucleoprotein granules and promoting recruitmtent of EIF4EBP2 . Plays a role as a repressor of mRNA translation during the transport of dendritic mRNAs to postsynaptic dendritic spines . 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 . 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 . Facilitates the assembly of miRNAs on specific target mRNAs . Also plays a role as an activator of mRNA translation of a subset of dendritic mRNAs at synapses . 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 . 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 . Binds to intramolecular G-quadruplex structures in the 5'- or 3'-UTRs of mRNA targets . Binds to G-quadruplex structures in the 3'-UTR of its own mRNA . Binds also to RNA ligands harboring a kissing complex (kc) structure; this binding may mediate the association of FMR1 with polyribosomes . Binds mRNAs containing U-rich target sequences . 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 . 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). Plays a role in mRNA nuclear export . Specifically recognizes and binds a subset of N6-methyladenosine (m6A)-containing mRNAs, promoting their nuclear export in a XPO1/CRM1-dependent manner . Together with export factor NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons (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 . May associate with nascent transcripts in a nuclear protein NXF1-dependent manner . In vitro, binds to RNA homomer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) . Moreover, plays a role in the modulation of the sodium-activated potassium channel KCNT1 gating activity . 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 proteasomal 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 . 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 H2AX/H2A.x and BRCA1 phosphorylations . .; FUNCTION: [Isoform 10]: Binds to RNA homomer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) . May bind to RNA in Cajal bodies . .; FUNCTION: [Isoform 6]: Binds to RNA homomer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) . May bind to RNA in Cajal bodies . .; 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. .

AccessionsENST00000334557.10
A0A087WWU4
ENST00000621447.1
ENST00000370475.9 [Q06787-1]
A0A087WXI3
ENST00000370470.5 [Q06787-6]
A0A087X1M7
ENST00000691214.1
ENST00000218200.12 [Q06787-9]
R9WPL0
X5D907
ENST00000693452.1
ENST00000370471.7 [Q06787-10]
ENST00000495717.6
ENST00000616382.5
Q8IXW7
A0A8I5KT56
R9WNI0
G3V0J0
ENST00000690137.1 [Q06787-7]
A0A8I5KTZ9
ENST00000692108.1
A0A087WWR6
X5DQX7
ENST00000439526.6
A0A087WY29
ENST00000440235.6 [Q06787-8]
Q06787
ENST00000621453.5
ENST00000621987.5
A0A0K0MJ24
A0A8I5KS01
ENST00000686086.1
ENST00000370477.5
A0A8I5KUC2
A0A8I5KZ21
ENST00000475038.3
ENST00000685491.1
ENST00000689517.1
ENST00000616614.4
ENST00000692091.1
ENST00000691111.1
A0A8I5KWH0
A0A8I5KYA7
ENST00000690216.1
A8MQB8
A0A087WVL8
W5ZQ92
ENST00000693512.1
R9WQY1
ENST00000687593.1 [Q06787-2]
Q8IUI9
A0A8I5KTT6