• Gene id: 2332

Gene Summary

• Gene Symbol: FMR1   Gene   UCSC   Ensembl
• Aliases: FMRP, FRAXA, POF, POF1
• Gene name: fragile X mental retardation 1
• Alternate names: synaptic functional regulator FMR1, fragile X mental retardation protein 1,
• Gene location: Xq27.3 (147911950: 147951126)     Exons: 17     NC_000023.11
• Gene summary(Entrez): 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 exp
• OMIM: 309550

Protein Summary

• Protein general information: Q06787  
  • Name: Synaptic functional regulator FMR1 (Fragile X mental retardation protein 1) (FMRP) (Protein FMR 1)
  • Length: 632  
  • Mass: 71,174
• Sequence:

  MEELVVEVRGSNGAFYKAFVKDVHEDSITVAFENNWQPDRQIPFHDVRFPPPVGYNKDINESDEVEVYSRANEKE
  PCCWWLAKVRMIKGEFYVIEYAACDATYNEIVTIERLRSVNPNKPATKDTFHKIKLDVPEDLRQMCAKEAAHKDF
  KKAVGAFSVTYDPENYQLVILSINEVTSKRAHMLIDMHFRSLRTKLSLIMRNEEASKQLESSRQLASRFHEQFIV
  REDLMGLAIGTHGANIQQARKVPGVTAIDLDEDTCTFHIYGEDQDAVKKARSFLEFAEDVIQVPRNLVGKVIGKN
  GKLIQEIVDKSGVVRVRIEAENEKNVPQEEEIMPPNSLPSNNSRVGPNAPEEKKHLDIKENSTHFSQPNSTKVQR
  VLVASSVVAGESQKPELKAWQGMVPFVFVGTKDSIANATVLLDYHLNYLKEVDQLRLERLQIDEQLRQIGASSRP
  PPNRTDKEKSYVTDDGQGMGRGSRPYRNRGHGRRGPGYTSGTNSEASNASETESDHRDELSDWSLAPTEEERESF
  LRRGDGRRRGGGGRGQGGRGRGGGFKGNDDHSRTDNRPRNPREAKGRTTDGSLQIRVDCNNERSVHTKTLQNTSS
  EGSRLRTGKDRNQKKEKPDSVDGQQPLVNGVP

• Structural information:
  • Protein Domains: Agenet-like (4-50)
    Agenet-like (63-115)
    KH (222-251)
    KH (285-314)
  • Interpro: IPR008395  IPR032196  IPR022034  IPR004087  IPR004088   IPR036612  
  • Prosite: PS51641 PS50084
  • PDB: 2BKD 2FMR 2LA5 2QND 4OVA 4QVZ 4QW2 5DE5 5DE8 5DEA 5UWJ 5UWO
  • PDBsum: 2BKD 2FMR 2LA5 2QND 4OVA 4QVZ 4QW2 5DE5 5DE8 5DEA 5UWJ 5UWO
  • DIP: 29509
  • STRING: ENSP00000359506
• Other Databases: GeneCards:  FMR1  Malacards:  FMR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IDA	biological process
GO:0002092	positive regulation of receptor internalization	IDA	biological process
GO:0002151	G-quadruplex RNA binding	IDA	molecular function
GO:0002151	G-quadruplex RNA binding	IDA	molecular function
GO:0003682	chromatin binding	ISS	molecular function
GO:0003723	RNA binding	IDA	molecular function
GO:0003729	mRNA binding	IDA	molecular function
GO:0003729	mRNA binding	IDA	molecular function
GO:0003729	mRNA binding	IDA	molecular function
GO:0003730	mRNA 3'-UTR binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005694	chromosome	ISS	cellular component
GO:0005730	nucleolus	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005844	polysome	ISS	cellular component
GO:0005844	polysome	ISS	cellular component
GO:0005844	polysome	IDA	cellular component
GO:0005844	polysome	IDA	cellular component
GO:0005844	polysome	IDA	cellular component
GO:0005844	polysome	IDA	cellular component
GO:0005845	mRNA cap binding complex	ISS	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0007215	glutamate receptor signaling pathway	ISS	biological process
GO:0008017	microtubule binding	ISS	molecular function
GO:0008266	poly(U) RNA binding	IDA	molecular function
GO:0008266	poly(U) RNA binding	IDA	molecular function
GO:0008266	poly(U) RNA binding	IDA	molecular function
GO:0008266	poly(U) RNA binding	IDA	molecular function
GO:0010369	chromocenter	ISS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0017148	negative regulation of translation	IBA	biological process
GO:0019034	viral replication complex	IDA	cellular component
GO:0019897	extrinsic component of plasma membrane	ISS	cellular component
GO:0030371	translation repressor activity	IDA	molecular function
GO:0030424	axon	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030426	growth cone	IDA	cellular component
GO:0030529	intracellular ribonucleoprotein complex	IDA	cellular component
GO:0031369	translation initiation factor binding	IPI	molecular function
GO:0032433	filopodium tip	ISS	cellular component
GO:0033129	positive regulation of histone phosphorylation	IDA	biological process
GO:0033592	RNA strand annealing activity	IDA	molecular function
GO:0034046	poly(G) binding	IDA	molecular function
GO:0034046	poly(G) binding	IDA	molecular function
GO:0034046	poly(G) binding	IDA	molecular function
GO:0034644	cellular response to UV	ISS	biological process
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035197	siRNA binding	IDA	molecular function
GO:0035198	miRNA binding	IDA	molecular function
GO:0035613	RNA stem-loop binding	IDA	molecular function
GO:0035613	RNA stem-loop binding	IDA	molecular function
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042995	cell projection	IDA	cellular component
GO:0043005	neuron projection	IDA	cellular component
GO:0043022	ribosome binding	IPI	molecular function
GO:0043197	dendritic spine	ISS	cellular component
GO:0043197	dendritic spine	ISS	cellular component
GO:0043198	dendritic shaft	IEA	cellular component
GO:0043204	perikaryon	ISS	cellular component
GO:0043204	perikaryon	IDA	cellular component
GO:0043204	perikaryon	IDA	cellular component
GO:0043488	regulation of mRNA stability	ISS	biological process
GO:0043679	axon terminus	ISS	cellular component
GO:0044325	ion channel binding	IPI	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044830	modulation by host of viral RNA genome replication	IMP	biological process
GO:0045202	synapse	ISS	cellular component
GO:0045502	dynein binding	ISS	molecular function
GO:0045727	positive regulation of translation	IDA	biological process
GO:0045727	positive regulation of translation	IDA	biological process
GO:0045947	negative regulation of translational initiation	ISS	biological process
GO:0046928	regulation of neurotransmitter secretion	ISS	biological process
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0048027	mRNA 5'-UTR binding	IDA	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0051028	mRNA transport	ISS	biological process
GO:0051489	regulation of filopodium assembly	IDA	biological process
GO:0051491	positive regulation of filopodium assembly	ISS	biological process
GO:0060964	regulation of gene silencing by miRNA	IMP	biological process
GO:0060998	regulation of dendritic spine development	IDA	biological process
GO:0060999	positive regulation of dendritic spine development	ISS	biological process
GO:0071598	neuronal ribonucleoprotein granule	ISS	cellular component
GO:0072711	cellular response to hydroxyurea	ISS	biological process
GO:0097386	glial cell projection	ISS	cellular component
GO:0098586	cellular response to virus	IDA	biological process
GO:0098793	presynapse	ISS	cellular component
GO:0098794	postsynapse	ISS	cellular component
GO:0098908	regulation of neuronal action potential	IDA	biological process
GO:1900453	negative regulation of long term synaptic depression	ISS	biological process
GO:1901254	positive regulation of intracellular transport of viral material	IMP	biological process
GO:1901386	negative regulation of voltage-gated calcium channel activity	ISS	biological process
GO:1901800	positive regulation of proteasomal protein catabolic process	ISS	biological process
GO:1902416	positive regulation of mRNA binding	IDA	biological process
GO:1902737	dendritic filopodium	ISS	cellular component
GO:1902737	dendritic filopodium	ISS	cellular component
GO:1990812	growth cone filopodium	ISS	cellular component
GO:1990825	sequence-specific mRNA binding	IDA	molecular function
GO:1990825	sequence-specific mRNA binding	IDA	molecular function
GO:1990904	ribonucleoprotein complex	IDA	cellular component
GO:2000301	negative regulation of synaptic vesicle exocytosis	ISS	biological process
GO:2000637	positive regulation of gene silencing by miRNA	IDA	biological process
GO:2000766	negative regulation of cytoplasmic translation	ISS	biological process
GO:2001022	positive regulation of response to DNA damage stimulus	IDA	biological process
GO:0032797	SMN complex	IDA	cellular component
GO:0042788	polysomal ribosome	TAS	cellular component
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IDA	biological process
GO:0002092	positive regulation of receptor internalization	IDA	biological process
GO:0002151	G-quadruplex RNA binding	IDA	molecular function
GO:0002151	G-quadruplex RNA binding	IDA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003682	chromatin binding	ISS	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	IDA	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0003729	mRNA binding	IDA	molecular function
GO:0003729	mRNA binding	IDA	molecular function
GO:0003729	mRNA binding	IDA	molecular function
GO:0003729	mRNA binding	TAS	molecular function
GO:0003730	mRNA 3'-UTR binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005694	chromosome	ISS	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005730	nucleolus	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005844	polysome	IEA	cellular component
GO:0005844	polysome	ISS	cellular component
GO:0005844	polysome	ISS	cellular component
GO:0005844	polysome	IDA	cellular component
GO:0005844	polysome	IDA	cellular component
GO:0005844	polysome	IDA	cellular component
GO:0005844	polysome	IDA	cellular component
GO:0005845	mRNA cap binding complex	ISS	cellular component
GO:0006810	transport	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0007215	glutamate receptor signaling pathway	ISS	biological process
GO:0008017	microtubule binding	ISS	molecular function
GO:0008266	poly(U) RNA binding	IDA	molecular function
GO:0008266	poly(U) RNA binding	IDA	molecular function
GO:0008266	poly(U) RNA binding	IDA	molecular function
GO:0008266	poly(U) RNA binding	IDA	molecular function
GO:0010369	chromocenter	ISS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0017148	negative regulation of translation	IBA	biological process
GO:0019034	viral replication complex	IDA	cellular component
GO:0019897	extrinsic component of plasma membrane	ISS	cellular component
GO:0030371	translation repressor activity	IDA	molecular function
GO:0030424	axon	IEA	cellular component
GO:0030424	axon	ISS	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030426	growth cone	IDA	cellular component
GO:0030529	intracellular ribonucleoprotein complex	IDA	cellular component
GO:0031369	translation initiation factor binding	IPI	molecular function
GO:0032433	filopodium tip	ISS	cellular component
GO:0033129	positive regulation of histone phosphorylation	IDA	biological process
GO:0033592	RNA strand annealing activity	IDA	molecular function
GO:0034046	poly(G) binding	IDA	molecular function
GO:0034046	poly(G) binding	IDA	molecular function
GO:0034046	poly(G) binding	IDA	molecular function
GO:0034644	cellular response to UV	ISS	biological process
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035197	siRNA binding	IDA	molecular function
GO:0035198	miRNA binding	IDA	molecular function
GO:0035613	RNA stem-loop binding	IDA	molecular function
GO:0035613	RNA stem-loop binding	IDA	molecular function
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042995	cell projection	IDA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0043005	neuron projection	IDA	cellular component
GO:0043022	ribosome binding	IPI	molecular function
GO:0043197	dendritic spine	IEA	cellular component
GO:0043197	dendritic spine	ISS	cellular component
GO:0043197	dendritic spine	ISS	cellular component
GO:0043198	dendritic shaft	IEA	cellular component
GO:0043204	perikaryon	ISS	cellular component
GO:0043204	perikaryon	IDA	cellular component
GO:0043204	perikaryon	IDA	cellular component
GO:0043488	regulation of mRNA stability	ISS	biological process
GO:0043679	axon terminus	ISS	cellular component
GO:0044325	ion channel binding	IPI	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044830	modulation by host of viral RNA genome replication	IMP	biological process
GO:0045202	synapse	IEA	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0045502	dynein binding	ISS	molecular function
GO:0045727	positive regulation of translation	IDA	biological process
GO:0045727	positive regulation of translation	IDA	biological process
GO:0045947	negative regulation of translational initiation	ISS	biological process
GO:0046928	regulation of neurotransmitter secretion	ISS	biological process
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0048027	mRNA 5'-UTR binding	IDA	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0051028	mRNA transport	ISS	biological process
GO:0051028	mRNA transport	IEA	biological process
GO:0051489	regulation of filopodium assembly	IDA	biological process
GO:0051491	positive regulation of filopodium assembly	ISS	biological process
GO:0060964	regulation of gene silencing by miRNA	IMP	biological process
GO:0060998	regulation of dendritic spine development	IDA	biological process
GO:0060999	positive regulation of dendritic spine development	ISS	biological process
GO:0071598	neuronal ribonucleoprotein granule	ISS	cellular component
GO:0072711	cellular response to hydroxyurea	ISS	biological process
GO:0097386	glial cell projection	ISS	cellular component
GO:0098586	cellular response to virus	IDA	biological process
GO:0098793	presynapse	ISS	cellular component
GO:0098794	postsynapse	ISS	cellular component
GO:0098908	regulation of neuronal action potential	IDA	biological process
GO:1900453	negative regulation of long term synaptic depression	ISS	biological process
GO:1901254	positive regulation of intracellular transport of viral material	IMP	biological process
GO:1901386	negative regulation of voltage-gated calcium channel activity	ISS	biological process
GO:1901800	positive regulation of proteasomal protein catabolic process	ISS	biological process
GO:1902416	positive regulation of mRNA binding	IDA	biological process
GO:1902737	dendritic filopodium	ISS	cellular component
GO:1902737	dendritic filopodium	ISS	cellular component
GO:1990812	growth cone filopodium	ISS	cellular component
GO:1990825	sequence-specific mRNA binding	IDA	molecular function
GO:1990825	sequence-specific mRNA binding	IDA	molecular function
GO:1990904	ribonucleoprotein complex	IDA	cellular component
GO:2000301	negative regulation of synaptic vesicle exocytosis	ISS	biological process
GO:2000637	positive regulation of gene silencing by miRNA	IDA	biological process
GO:2000766	negative regulation of cytoplasmic translation	ISS	biological process
GO:2001022	positive regulation of response to DNA damage stimulus	IDA	biological process
GO:0032797	SMN complex	IDA	cellular component
GO:0042788	polysomal ribosome	TAS	cellular component
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IDA	biological process
GO:0002092	positive regulation of receptor internalization	IDA	biological process
GO:0002151	G-quadruplex RNA binding	IDA	molecular function
GO:0002151	G-quadruplex RNA binding	IDA	molecular function
GO:0003682	chromatin binding	ISS	molecular function
GO:0003723	RNA binding	IDA	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0003729	mRNA binding	IDA	molecular function
GO:0003729	mRNA binding	IDA	molecular function
GO:0003729	mRNA binding	IDA	molecular function
GO:0003729	mRNA binding	TAS	molecular function
GO:0003730	mRNA 3'-UTR binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005694	chromosome	ISS	cellular component
GO:0005730	nucleolus	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005844	polysome	ISS	cellular component
GO:0005844	polysome	ISS	cellular component
GO:0005844	polysome	IDA	cellular component
GO:0005844	polysome	IDA	cellular component
GO:0005844	polysome	IDA	cellular component
GO:0005844	polysome	IDA	cellular component
GO:0005845	mRNA cap binding complex	ISS	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0007215	glutamate receptor signaling pathway	ISS	biological process
GO:0008017	microtubule binding	ISS	molecular function
GO:0008266	poly(U) RNA binding	IDA	molecular function
GO:0008266	poly(U) RNA binding	IDA	molecular function
GO:0008266	poly(U) RNA binding	IDA	molecular function
GO:0008266	poly(U) RNA binding	IDA	molecular function
GO:0010369	chromocenter	ISS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0017148	negative regulation of translation	IBA	biological process
GO:0019034	viral replication complex	IDA	cellular component
GO:0019897	extrinsic component of plasma membrane	ISS	cellular component
GO:0030371	translation repressor activity	IDA	molecular function
GO:0030424	axon	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030426	growth cone	IDA	cellular component
GO:0030529	intracellular ribonucleoprotein complex	IDA	cellular component
GO:0031369	translation initiation factor binding	IPI	molecular function
GO:0032433	filopodium tip	ISS	cellular component
GO:0033129	positive regulation of histone phosphorylation	IDA	biological process
GO:0033592	RNA strand annealing activity	IDA	molecular function
GO:0034046	poly(G) binding	IDA	molecular function
GO:0034046	poly(G) binding	IDA	molecular function
GO:0034046	poly(G) binding	IDA	molecular function
GO:0034644	cellular response to UV	ISS	biological process
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035197	siRNA binding	IDA	molecular function
GO:0035198	miRNA binding	IDA	molecular function
GO:0035613	RNA stem-loop binding	IDA	molecular function
GO:0035613	RNA stem-loop binding	IDA	molecular function
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042995	cell projection	IDA	cellular component
GO:0043005	neuron projection	IDA	cellular component
GO:0043022	ribosome binding	IPI	molecular function
GO:0043197	dendritic spine	ISS	cellular component
GO:0043197	dendritic spine	ISS	cellular component
GO:0043204	perikaryon	ISS	cellular component
GO:0043204	perikaryon	IDA	cellular component
GO:0043204	perikaryon	IDA	cellular component
GO:0043488	regulation of mRNA stability	ISS	biological process
GO:0043679	axon terminus	ISS	cellular component
GO:0044325	ion channel binding	IPI	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044830	modulation by host of viral RNA genome replication	IMP	biological process
GO:0045202	synapse	ISS	cellular component
GO:0045502	dynein binding	ISS	molecular function
GO:0045727	positive regulation of translation	IDA	biological process
GO:0045727	positive regulation of translation	IDA	biological process
GO:0045947	negative regulation of translational initiation	ISS	biological process
GO:0046928	regulation of neurotransmitter secretion	ISS	biological process
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0048027	mRNA 5'-UTR binding	IDA	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0051028	mRNA transport	ISS	biological process
GO:0051489	regulation of filopodium assembly	IDA	biological process
GO:0051491	positive regulation of filopodium assembly	ISS	biological process
GO:0060964	regulation of gene silencing by miRNA	IMP	biological process
GO:0060998	regulation of dendritic spine development	IDA	biological process
GO:0060999	positive regulation of dendritic spine development	ISS	biological process
GO:0071598	neuronal ribonucleoprotein granule	ISS	cellular component
GO:0072711	cellular response to hydroxyurea	ISS	biological process
GO:0097386	glial cell projection	ISS	cellular component
GO:0098586	cellular response to virus	IDA	biological process
GO:0098793	presynapse	ISS	cellular component
GO:0098794	postsynapse	ISS	cellular component
GO:0098908	regulation of neuronal action potential	IDA	biological process
GO:1900453	negative regulation of long term synaptic depression	ISS	biological process
GO:1901254	positive regulation of intracellular transport of viral material	IMP	biological process
GO:1901386	negative regulation of voltage-gated calcium channel activity	ISS	biological process
GO:1901800	positive regulation of proteasomal protein catabolic process	ISS	biological process
GO:1902416	positive regulation of mRNA binding	IDA	biological process
GO:1902737	dendritic filopodium	ISS	cellular component
GO:1902737	dendritic filopodium	ISS	cellular component
GO:1990812	growth cone filopodium	ISS	cellular component
GO:1990825	sequence-specific mRNA binding	IDA	molecular function
GO:1990825	sequence-specific mRNA binding	IDA	molecular function
GO:1990904	ribonucleoprotein complex	IDA	cellular component
GO:2000301	negative regulation of synaptic vesicle exocytosis	ISS	biological process
GO:2000637	positive regulation of gene silencing by miRNA	IDA	biological process
GO:2000766	negative regulation of cytoplasmic translation	ISS	biological process
GO:2001022	positive regulation of response to DNA damage stimulus	IDA	biological process
GO:0032797	SMN complex	IDA	cellular component
GO:0042788	polysomal ribosome	TAS	cellular component

Diseases

Associated diseases	References
Fragile X syndrome	KEGG: H00465
Obesity	GAD: 20734064
Mental retardation	GAD: 11415517
Multiple system atrophy	GAD: 15956167
Spinocerebellar ataxia	GAD: 15642922
Ataxia	GAD: 15483640
Parkinson disease	GAD: 15929093
Autism	GAD: 15000256
Mental disorder	GAD: 15617547
Cognitive function	GAD: 15971024
Premature ovarian insufficiency (POI)	INFBASE: 24938362
Female infertility	INFBASE: 22581803
Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)	INFBASE: 25134882
Functional ovarian reserve (FOR)	INFBASE: 23533225
Low ovarian response	INFBASE: 25153074
Female infertility	INFBASE: 15608041
Ovarian aging	INFBASE: 23948096
Ovarian dysfunction	INFBASE: 23537988
Premature ovarian failure (POF)	INFBASE: 24912415
Ovarian insufficiency	INFBASE: 24418349
Fragile X Tremor/Ataxia Syndromeá(FXTAS)	MIK: 24418349, H01731
Male factor infertility	MIK: 24418349
Decreased ovarian reserve (DOR)	INFBASE: 26209748
Diminished ovarian reserve (DOR)	INFBASE: 26345686
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 23640459
Fragile X Tremor/Ataxia Syndrome (FXTAS)	MIK: 24418349
Male infertility	MIK: 29779145

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24418349	Fragile X Tremor/Ataxia Syndrome (FXTAS)	FMR1 premutation			Male infertility
23640459	Contributes to human spermatogenic failure with Maturation arrest				Male infertility
29779145	Male infertility	CGG repeat size of 645, CGG repeats >200, CGG repeat size of 477, CGG repeats range from 501-550,CGG repeats range from 931-940, CGG repeat size of 23			Male infertility	GALT F5
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881