GENERAL INFORMATIONi
Gene namei FMR1
Synonyms FMRP, FRAXA, MGC87458, POF, POF1
Gene descriptioni Fragile X messenger ribonucleoprotein 1
Protein classi Disease related genes
Human disease related genes
Predicted locationi Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi
Chromosome X
Cytoband q27.3
Chromosome location (bp) 147911919 - 147951125
Number of transcriptsi 22
Ensembl ENSG00000102081 (version 109)
Entrez gene 2332
HGNC HGNC:3775
UniProt Q06787 (UniProt - Evidence at protein level)
neXtProt NX_Q06787
GeneCards FMR1
Antibodypedia FMR1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i 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 1, 2, 3, 4, 5, 6. 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 7, 8, 9. Plays a role in the alternative splicing of its own mRNA 10. 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 11. Acts as a repressor of mRNA translation in synaptic regions by mediating formation of neuronal ribonucleoprotein granules and promoting recruitmtent of EIF4EBP2 12. Plays a role as a repressor of mRNA translation during the transport of dendritic mRNAs to postsynaptic dendritic spines 13, 14, 15, 16. 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 17. 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 18, 19, 20. Facilitates the assembly of miRNAs on specific target mRNAs 21. Also plays a role as an activator of mRNA translation of a subset of dendritic mRNAs at synapses 22, 23. 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 24, 25, 26, 27, 28, 29, 30. 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 31. Binds to intramolecular G-quadruplex structures in the 5'- or 3'-UTRs of mRNA targets 32, 33, 34, 35. Binds to G-quadruplex structures in the 3'-UTR of its own mRNA 36, 37, 38, 39, 40. Binds also to RNA ligands harboring a kissing complex (kc) structure; this binding may mediate the association of FMR1 with polyribosomes 41. Binds mRNAs containing U-rich target sequences 42. 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 43. 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 44. Specifically recognizes and binds a subset of N6-methyladenosine (m6A)- containing mRNAs, promoting their nuclear export in a XPO1/CRM1-dependent manner 45. 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 46, 47. May associate with nascent transcripts in a nuclear protein NXF1-dependent manner 48. 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) 49, 50, 51, 52, 53. Moreover, plays a role in the modulation of the sodium-activated potassium channel KCNT1 gating activity 54. 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). 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 55. 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 56. show less
Molecular function (UniProt)i Activator, Repressor, Ribonucleoprotein, RNA-binding
Biological process (UniProt)i DNA damage, Host-virus interaction, mRNA processing, mRNA splicing, mRNA transport, Neurogenesis, RNA-mediated gene silencing, Translation regulation, Transport
Gene summary (Entrez)i 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] show less
PROTEIN INFORMATIONi
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
FMR1-201
ENSP00000218200
ENST00000218200
Q06787
[Direct mapping] Fragile X messenger ribonucleoprotein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000381 [regulation of alternative mRNA splicing, via spliceosome]
GO:0000775 [chromosome, centromeric region]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0002092 [positive regulation of receptor internalization]
GO:0002151 [G-quadruplex RNA binding]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0003730 [mRNA 3'-UTR binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005844 [polysome]
GO:0005845 [mRNA cap binding complex]
GO:0005886 [plasma membrane]
GO:0006281 [DNA repair]
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:0008017 [microtubule binding]
GO:0008266 [poly(U) RNA binding]
GO:0008380 [RNA splicing]
GO:0010369 [chromocenter]
GO:0010494 [cytoplasmic stress granule]
GO:0014069 [postsynaptic density]
GO:0015030 [Cajal body]
GO:0016020 [membrane]
GO:0017148 [negative regulation of translation]
GO:0019897 [extrinsic component of plasma membrane]
GO:0030371 [translation repressor activity]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0031047 [gene silencing by RNA]
GO:0031369 [translation initiation factor binding]
GO:0032433 [filopodium tip]
GO:0032797 [SMN complex]
GO:0033592 [RNA strand annealing activity]
GO:0034046 [poly(G) binding]
GO:0035064 [methylated histone binding]
GO:0035197 [siRNA binding]
GO:0035198 [miRNA binding]
GO:0035613 [RNA stem-loop binding]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043022 [ribosome binding]
GO:0043025 [neuronal cell body]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0043232 [intracellular non-membrane-bounded organelle]
GO:0043488 [regulation of mRNA stability]
GO:0043679 [axon terminus]
GO:0044325 [transmembrane transporter binding]
GO:0044326 [dendritic spine neck]
GO:0044830 [modulation by host of viral RNA genome replication]
GO:0045182 [translation regulator activity]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0045727 [positive regulation of translation]
GO:0045947 [negative regulation of translational initiation]
GO:0046928 [regulation of neurotransmitter secretion]
GO:0046982 [protein heterodimerization activity]
GO:0048027 [mRNA 5'-UTR binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0051489 [regulation of filopodium assembly]
GO:0051491 [positive regulation of filopodium assembly]
GO:0060964 [regulation of miRNA-mediated gene silencing]
GO:0060998 [regulation of dendritic spine development]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070840 [dynein complex binding]
GO:0071598 [neuronal ribonucleoprotein granule]
GO:0097386 [glial cell projection]
GO:0098586 [cellular response to virus]
GO:0098793 [presynapse]
GO:0098794 [postsynapse]
GO:0098908 [regulation of neuronal action potential]
GO:0140693 [molecular condensate scaffold activity]
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:1902737 [dendritic filopodium]
GO:1990124 [messenger ribonucleoprotein complex]
GO:1990812 [growth cone filopodium]
GO:1990825 [sequence-specific mRNA binding]
GO:1990904 [ribonucleoprotein complex]
GO:2000301 [negative regulation of synaptic vesicle exocytosis]
GO:2000637 [positive regulation of miRNA-mediated gene silencing]
GO:2000766 [negative regulation of cytoplasmic translation]
GO:2001022 [positive regulation of response to DNA damage stimulus]
Show all
 611 aa
69 kDa 		No 0
FMR1-202
ENSP00000355115
ENST00000334557
Q8IXW7
[Direct mapping] FMR1 protein; Synaptic functional regulator FMR1; Truncated FMRP
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006417 [regulation of translation]
Show all
 297 aa
34.1 kDa 		No 0
FMR1-203
ENSP00000359501
ENST00000370470
Q06787
[Direct mapping] Fragile X messenger ribonucleoprotein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000381 [regulation of alternative mRNA splicing, via spliceosome]
GO:0000775 [chromosome, centromeric region]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0002092 [positive regulation of receptor internalization]
GO:0002151 [G-quadruplex RNA binding]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0003730 [mRNA 3'-UTR binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005844 [polysome]
GO:0005845 [mRNA cap binding complex]
GO:0005886 [plasma membrane]
GO:0006281 [DNA repair]
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:0008017 [microtubule binding]
GO:0008266 [poly(U) RNA binding]
GO:0008380 [RNA splicing]
GO:0010369 [chromocenter]
GO:0010494 [cytoplasmic stress granule]
GO:0014069 [postsynaptic density]
GO:0015030 [Cajal body]
GO:0016020 [membrane]
GO:0017148 [negative regulation of translation]
GO:0019897 [extrinsic component of plasma membrane]
GO:0030371 [translation repressor activity]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0031047 [gene silencing by RNA]
GO:0031369 [translation initiation factor binding]
GO:0032433 [filopodium tip]
GO:0032797 [SMN complex]
GO:0033592 [RNA strand annealing activity]
GO:0034046 [poly(G) binding]
GO:0035064 [methylated histone binding]
GO:0035197 [siRNA binding]
GO:0035198 [miRNA binding]
GO:0035613 [RNA stem-loop binding]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043022 [ribosome binding]
GO:0043025 [neuronal cell body]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0043232 [intracellular non-membrane-bounded organelle]
GO:0043488 [regulation of mRNA stability]
GO:0043679 [axon terminus]
GO:0044325 [transmembrane transporter binding]
GO:0044326 [dendritic spine neck]
GO:0044830 [modulation by host of viral RNA genome replication]
GO:0045182 [translation regulator activity]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0045727 [positive regulation of translation]
GO:0045947 [negative regulation of translational initiation]
GO:0046928 [regulation of neurotransmitter secretion]
GO:0046982 [protein heterodimerization activity]
GO:0048027 [mRNA 5'-UTR binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0051489 [regulation of filopodium assembly]
GO:0051491 [positive regulation of filopodium assembly]
GO:0060964 [regulation of miRNA-mediated gene silencing]
GO:0060998 [regulation of dendritic spine development]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070840 [dynein complex binding]
GO:0071598 [neuronal ribonucleoprotein granule]
GO:0097386 [glial cell projection]
GO:0098586 [cellular response to virus]
GO:0098793 [presynapse]
GO:0098794 [postsynapse]
GO:0098908 [regulation of neuronal action potential]
GO:0140693 [molecular condensate scaffold activity]
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:1902737 [dendritic filopodium]
GO:1990124 [messenger ribonucleoprotein complex]
GO:1990812 [growth cone filopodium]
GO:1990825 [sequence-specific mRNA binding]
GO:1990904 [ribonucleoprotein complex]
GO:2000301 [negative regulation of synaptic vesicle exocytosis]
GO:2000637 [positive regulation of miRNA-mediated gene silencing]
GO:2000766 [negative regulation of cytoplasmic translation]
GO:2001022 [positive regulation of response to DNA damage stimulus]
Show all
 590 aa
66.5 kDa 		No 0
FMR1-204
ENSP00000359502
ENST00000370471
Q06787
[Direct mapping] Fragile X messenger ribonucleoprotein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000381 [regulation of alternative mRNA splicing, via spliceosome]
GO:0000775 [chromosome, centromeric region]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0002092 [positive regulation of receptor internalization]
GO:0002151 [G-quadruplex RNA binding]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0003730 [mRNA 3'-UTR binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005844 [polysome]
GO:0005845 [mRNA cap binding complex]
GO:0005886 [plasma membrane]
GO:0006281 [DNA repair]
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:0008017 [microtubule binding]
GO:0008266 [poly(U) RNA binding]
GO:0008380 [RNA splicing]
GO:0010369 [chromocenter]
GO:0010494 [cytoplasmic stress granule]
GO:0014069 [postsynaptic density]
GO:0015030 [Cajal body]
GO:0016020 [membrane]
GO:0017148 [negative regulation of translation]
GO:0019897 [extrinsic component of plasma membrane]
GO:0030371 [translation repressor activity]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0031047 [gene silencing by RNA]
GO:0031369 [translation initiation factor binding]
GO:0032433 [filopodium tip]
GO:0032797 [SMN complex]
GO:0033592 [RNA strand annealing activity]
GO:0034046 [poly(G) binding]
GO:0035064 [methylated histone binding]
GO:0035197 [siRNA binding]
GO:0035198 [miRNA binding]
GO:0035613 [RNA stem-loop binding]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043022 [ribosome binding]
GO:0043025 [neuronal cell body]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0043232 [intracellular non-membrane-bounded organelle]
GO:0043488 [regulation of mRNA stability]
GO:0043679 [axon terminus]
GO:0044325 [transmembrane transporter binding]
GO:0044326 [dendritic spine neck]
GO:0044830 [modulation by host of viral RNA genome replication]
GO:0045182 [translation regulator activity]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0045727 [positive regulation of translation]
GO:0045947 [negative regulation of translational initiation]
GO:0046928 [regulation of neurotransmitter secretion]
GO:0046982 [protein heterodimerization activity]
GO:0048027 [mRNA 5'-UTR binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0051489 [regulation of filopodium assembly]
GO:0051491 [positive regulation of filopodium assembly]
GO:0060964 [regulation of miRNA-mediated gene silencing]
GO:0060998 [regulation of dendritic spine development]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070840 [dynein complex binding]
GO:0071598 [neuronal ribonucleoprotein granule]
GO:0097386 [glial cell projection]
GO:0098586 [cellular response to virus]
GO:0098793 [presynapse]
GO:0098794 [postsynapse]
GO:0098908 [regulation of neuronal action potential]
GO:0140693 [molecular condensate scaffold activity]
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:1902737 [dendritic filopodium]
GO:1990124 [messenger ribonucleoprotein complex]
GO:1990812 [growth cone filopodium]
GO:1990825 [sequence-specific mRNA binding]
GO:1990904 [ribonucleoprotein complex]
GO:2000301 [negative regulation of synaptic vesicle exocytosis]
GO:2000637 [positive regulation of miRNA-mediated gene silencing]
GO:2000766 [negative regulation of cytoplasmic translation]
GO:2001022 [positive regulation of response to DNA damage stimulus]
Show all
 537 aa
61 kDa 		No 0
FMR1-205
ENSP00000359506
ENST00000370475
Q06787
[Direct mapping] Fragile X messenger ribonucleoprotein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000381 [regulation of alternative mRNA splicing, via spliceosome]
GO:0000775 [chromosome, centromeric region]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0002092 [positive regulation of receptor internalization]
GO:0002151 [G-quadruplex RNA binding]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0003730 [mRNA 3'-UTR binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005844 [polysome]
GO:0005845 [mRNA cap binding complex]
GO:0005886 [plasma membrane]
GO:0006281 [DNA repair]
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:0008017 [microtubule binding]
GO:0008266 [poly(U) RNA binding]
GO:0008380 [RNA splicing]
GO:0010369 [chromocenter]
GO:0010494 [cytoplasmic stress granule]
GO:0014069 [postsynaptic density]
GO:0015030 [Cajal body]
GO:0016020 [membrane]
GO:0017148 [negative regulation of translation]
GO:0019897 [extrinsic component of plasma membrane]
GO:0030371 [translation repressor activity]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0031047 [gene silencing by RNA]
GO:0031369 [translation initiation factor binding]
GO:0032433 [filopodium tip]
GO:0032797 [SMN complex]
GO:0033592 [RNA strand annealing activity]
GO:0034046 [poly(G) binding]
GO:0035064 [methylated histone binding]
GO:0035197 [siRNA binding]
GO:0035198 [miRNA binding]
GO:0035613 [RNA stem-loop binding]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043022 [ribosome binding]
GO:0043025 [neuronal cell body]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0043232 [intracellular non-membrane-bounded organelle]
GO:0043488 [regulation of mRNA stability]
GO:0043679 [axon terminus]
GO:0044325 [transmembrane transporter binding]
GO:0044326 [dendritic spine neck]
GO:0044830 [modulation by host of viral RNA genome replication]
GO:0045182 [translation regulator activity]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0045727 [positive regulation of translation]
GO:0045947 [negative regulation of translational initiation]
GO:0046928 [regulation of neurotransmitter secretion]
GO:0046982 [protein heterodimerization activity]
GO:0048027 [mRNA 5'-UTR binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0051489 [regulation of filopodium assembly]
GO:0051491 [positive regulation of filopodium assembly]
GO:0060964 [regulation of miRNA-mediated gene silencing]
GO:0060998 [regulation of dendritic spine development]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070840 [dynein complex binding]
GO:0071598 [neuronal ribonucleoprotein granule]
GO:0097386 [glial cell projection]
GO:0098586 [cellular response to virus]
GO:0098793 [presynapse]
GO:0098794 [postsynapse]
GO:0098908 [regulation of neuronal action potential]
GO:0140693 [molecular condensate scaffold activity]
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:1902737 [dendritic filopodium]
GO:1990124 [messenger ribonucleoprotein complex]
GO:1990812 [growth cone filopodium]
GO:1990825 [sequence-specific mRNA binding]
GO:1990904 [ribonucleoprotein complex]
GO:2000301 [negative regulation of synaptic vesicle exocytosis]
GO:2000637 [positive regulation of miRNA-mediated gene silencing]
GO:2000766 [negative regulation of cytoplasmic translation]
GO:2001022 [positive regulation of response to DNA damage stimulus]
Show all
 632 aa
71.2 kDa 		No 0
FMR1-206
ENSP00000359508
ENST00000370477
A8MQB8
[Direct mapping] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000775 [chromosome, centromeric region]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005634 [nucleus]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006397 [mRNA processing]
GO:0006417 [regulation of translation]
GO:0007399 [nervous system development]
GO:0008380 [RNA splicing]
GO:0016020 [membrane]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0032433 [filopodium tip]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0045202 [synapse]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0097060 [synaptic membrane]
GO:1990904 [ribonucleoprotein complex]
Show all
 582 aa
65.8 kDa 		No 0
FMR1-207
ENSP00000395923
ENST00000439526
G3V0J0
[Direct mapping] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000775 [chromosome, centromeric region]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005634 [nucleus]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006397 [mRNA processing]
GO:0006417 [regulation of translation]
GO:0007399 [nervous system development]
GO:0008380 [RNA splicing]
GO:0016020 [membrane]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0032433 [filopodium tip]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0045202 [synapse]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0097060 [synaptic membrane]
GO:1990904 [ribonucleoprotein complex]
Show all
 592 aa
66.8 kDa 		No 0
FMR1-208
ENSP00000413764
ENST00000440235
Q06787
[Direct mapping] Fragile X messenger ribonucleoprotein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000381 [regulation of alternative mRNA splicing, via spliceosome]
GO:0000775 [chromosome, centromeric region]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0002092 [positive regulation of receptor internalization]
GO:0002151 [G-quadruplex RNA binding]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0003730 [mRNA 3'-UTR binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005844 [polysome]
GO:0005845 [mRNA cap binding complex]
GO:0005886 [plasma membrane]
GO:0006281 [DNA repair]
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:0008017 [microtubule binding]
GO:0008266 [poly(U) RNA binding]
GO:0008380 [RNA splicing]
GO:0010369 [chromocenter]
GO:0010494 [cytoplasmic stress granule]
GO:0014069 [postsynaptic density]
GO:0015030 [Cajal body]
GO:0016020 [membrane]
GO:0017148 [negative regulation of translation]
GO:0019897 [extrinsic component of plasma membrane]
GO:0030371 [translation repressor activity]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0031047 [gene silencing by RNA]
GO:0031369 [translation initiation factor binding]
GO:0032433 [filopodium tip]
GO:0032797 [SMN complex]
GO:0033592 [RNA strand annealing activity]
GO:0034046 [poly(G) binding]
GO:0035064 [methylated histone binding]
GO:0035197 [siRNA binding]
GO:0035198 [miRNA binding]
GO:0035613 [RNA stem-loop binding]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043022 [ribosome binding]
GO:0043025 [neuronal cell body]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0043232 [intracellular non-membrane-bounded organelle]
GO:0043488 [regulation of mRNA stability]
GO:0043679 [axon terminus]
GO:0044325 [transmembrane transporter binding]
GO:0044326 [dendritic spine neck]
GO:0044830 [modulation by host of viral RNA genome replication]
GO:0045182 [translation regulator activity]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0045727 [positive regulation of translation]
GO:0045947 [negative regulation of translational initiation]
GO:0046928 [regulation of neurotransmitter secretion]
GO:0046982 [protein heterodimerization activity]
GO:0048027 [mRNA 5'-UTR binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0051489 [regulation of filopodium assembly]
GO:0051491 [positive regulation of filopodium assembly]
GO:0060964 [regulation of miRNA-mediated gene silencing]
GO:0060998 [regulation of dendritic spine development]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070840 [dynein complex binding]
GO:0071598 [neuronal ribonucleoprotein granule]
GO:0097386 [glial cell projection]
GO:0098586 [cellular response to virus]
GO:0098793 [presynapse]
GO:0098794 [postsynapse]
GO:0098908 [regulation of neuronal action potential]
GO:0140693 [molecular condensate scaffold activity]
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:1902737 [dendritic filopodium]
GO:1990124 [messenger ribonucleoprotein complex]
GO:1990812 [growth cone filopodium]
GO:1990825 [sequence-specific mRNA binding]
GO:1990904 [ribonucleoprotein complex]
GO:2000301 [negative regulation of synaptic vesicle exocytosis]
GO:2000637 [positive regulation of miRNA-mediated gene silencing]
GO:2000766 [negative regulation of cytoplasmic translation]
GO:2001022 [positive regulation of response to DNA damage stimulus]
Show all
 586 aa
66.2 kDa 		No 0
FMR1-212
ENSP00000481474
ENST00000495717
A0A087WY29
[Direct mapping] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000775 [chromosome, centromeric region]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005634 [nucleus]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006397 [mRNA processing]
GO:0006417 [regulation of translation]
GO:0007399 [nervous system development]
GO:0008380 [RNA splicing]
GO:0016020 [membrane]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0032433 [filopodium tip]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0045202 [synapse]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0097060 [synaptic membrane]
GO:1990904 [ribonucleoprotein complex]
Show all
 561 aa
63.4 kDa 		No 0
FMR1-214
ENSP00000481058
ENST00000616382
A0A087WXI3
[Direct mapping] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000775 [chromosome, centromeric region]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005634 [nucleus]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006397 [mRNA processing]
GO:0006417 [regulation of translation]
GO:0007399 [nervous system development]
GO:0008380 [RNA splicing]
GO:0016020 [membrane]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0032433 [filopodium tip]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0045202 [synapse]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0097060 [synaptic membrane]
GO:1990904 [ribonucleoprotein complex]
Show all
 536 aa
60.7 kDa 		No 0
FMR1-217
ENSP00000484324
ENST00000621447
A0A087X1M7
[Direct mapping] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
 31 aa
3.5 kDa 		No 0
FMR1-218
ENSP00000479528
ENST00000621453
A0A087WVL8
[Direct mapping] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000775 [chromosome, centromeric region]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005634 [nucleus]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006397 [mRNA processing]
GO:0006417 [regulation of translation]
GO:0007399 [nervous system development]
GO:0008380 [RNA splicing]
GO:0016020 [membrane]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0032433 [filopodium tip]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0045202 [synapse]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0097060 [synaptic membrane]
GO:1990904 [ribonucleoprotein complex]
Show all
 548 aa
62.1 kDa 		No 0
FMR1-221
ENSP00000509963
ENST00000685491
A0A8I5KTZ9
[Direct mapping] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000775 [chromosome, centromeric region]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005634 [nucleus]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006397 [mRNA processing]
GO:0006417 [regulation of translation]
GO:0007399 [nervous system development]
GO:0008380 [RNA splicing]
GO:0016020 [membrane]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0032433 [filopodium tip]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0045202 [synapse]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0097060 [synaptic membrane]
GO:1990904 [ribonucleoprotein complex]
Show all
 559 aa
63.2 kDa 		No 0
FMR1-222
ENSP00000510759
ENST00000686086
A0A8I5KWH0
[Direct mapping] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000775 [chromosome, centromeric region]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005634 [nucleus]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006397 [mRNA processing]
GO:0006417 [regulation of translation]
GO:0007399 [nervous system development]
GO:0008380 [RNA splicing]
GO:0016020 [membrane]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0032433 [filopodium tip]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0045202 [synapse]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0097060 [synaptic membrane]
GO:1990904 [ribonucleoprotein complex]
Show all
 570 aa
64.1 kDa 		No 0
FMR1-223
ENSP00000509270
ENST00000687593
Q06787
[Direct mapping] Fragile X messenger ribonucleoprotein 1
Show all
X5D907
[Target identity:100%; Query identity:100%] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000381 [regulation of alternative mRNA splicing, via spliceosome]
GO:0000775 [chromosome, centromeric region]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0002092 [positive regulation of receptor internalization]
GO:0002151 [G-quadruplex RNA binding]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0003730 [mRNA 3'-UTR binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005844 [polysome]
GO:0005845 [mRNA cap binding complex]
GO:0005886 [plasma membrane]
GO:0006281 [DNA repair]
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:0008017 [microtubule binding]
GO:0008266 [poly(U) RNA binding]
GO:0008380 [RNA splicing]
GO:0010369 [chromocenter]
GO:0010494 [cytoplasmic stress granule]
GO:0014069 [postsynaptic density]
GO:0015030 [Cajal body]
GO:0016020 [membrane]
GO:0017148 [negative regulation of translation]
GO:0019897 [extrinsic component of plasma membrane]
GO:0030371 [translation repressor activity]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0031047 [gene silencing by RNA]
GO:0031369 [translation initiation factor binding]
GO:0032433 [filopodium tip]
GO:0032797 [SMN complex]
GO:0033592 [RNA strand annealing activity]
GO:0034046 [poly(G) binding]
GO:0035064 [methylated histone binding]
GO:0035197 [siRNA binding]
GO:0035198 [miRNA binding]
GO:0035613 [RNA stem-loop binding]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043022 [ribosome binding]
GO:0043025 [neuronal cell body]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0043232 [intracellular non-membrane-bounded organelle]
GO:0043488 [regulation of mRNA stability]
GO:0043679 [axon terminus]
GO:0044325 [transmembrane transporter binding]
GO:0044326 [dendritic spine neck]
GO:0044830 [modulation by host of viral RNA genome replication]
GO:0045182 [translation regulator activity]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0045727 [positive regulation of translation]
GO:0045947 [negative regulation of translational initiation]
GO:0046928 [regulation of neurotransmitter secretion]
GO:0046982 [protein heterodimerization activity]
GO:0048027 [mRNA 5'-UTR binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0051489 [regulation of filopodium assembly]
GO:0051491 [positive regulation of filopodium assembly]
GO:0060964 [regulation of miRNA-mediated gene silencing]
GO:0060998 [regulation of dendritic spine development]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070840 [dynein complex binding]
GO:0071598 [neuronal ribonucleoprotein granule]
GO:0097060 [synaptic membrane]
GO:0097386 [glial cell projection]
GO:0098586 [cellular response to virus]
GO:0098793 [presynapse]
GO:0098794 [postsynapse]
GO:0098908 [regulation of neuronal action potential]
GO:0140693 [molecular condensate scaffold activity]
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:1902737 [dendritic filopodium]
GO:1990124 [messenger ribonucleoprotein complex]
GO:1990812 [growth cone filopodium]
GO:1990825 [sequence-specific mRNA binding]
GO:1990904 [ribonucleoprotein complex]
GO:2000301 [negative regulation of synaptic vesicle exocytosis]
GO:2000637 [positive regulation of miRNA-mediated gene silencing]
GO:2000766 [negative regulation of cytoplasmic translation]
GO:2001022 [positive regulation of response to DNA damage stimulus]
Show all
 594 aa
67 kDa 		No 0
FMR1-224
ENSP00000510686
ENST00000689517
A0A8I5KTT6
[Direct mapping] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000775 [chromosome, centromeric region]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005886 [plasma membrane]
GO:0006417 [regulation of translation]
GO:0007399 [nervous system development]
GO:0016020 [membrane]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0032433 [filopodium tip]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0045202 [synapse]
GO:0048471 [perinuclear region of cytoplasm]
GO:0097060 [synaptic membrane]
Show all
 460 aa
51.6 kDa 		No 0
FMR1-226
ENSP00000509813
ENST00000690137
Q06787
[Direct mapping] Fragile X messenger ribonucleoprotein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000381 [regulation of alternative mRNA splicing, via spliceosome]
GO:0000775 [chromosome, centromeric region]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0002092 [positive regulation of receptor internalization]
GO:0002151 [G-quadruplex RNA binding]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0003730 [mRNA 3'-UTR binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005844 [polysome]
GO:0005845 [mRNA cap binding complex]
GO:0005886 [plasma membrane]
GO:0006281 [DNA repair]
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:0008017 [microtubule binding]
GO:0008266 [poly(U) RNA binding]
GO:0008380 [RNA splicing]
GO:0010369 [chromocenter]
GO:0010494 [cytoplasmic stress granule]
GO:0014069 [postsynaptic density]
GO:0015030 [Cajal body]
GO:0016020 [membrane]
GO:0017148 [negative regulation of translation]
GO:0019897 [extrinsic component of plasma membrane]
GO:0030371 [translation repressor activity]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0031047 [gene silencing by RNA]
GO:0031369 [translation initiation factor binding]
GO:0032433 [filopodium tip]
GO:0032797 [SMN complex]
GO:0033592 [RNA strand annealing activity]
GO:0034046 [poly(G) binding]
GO:0035064 [methylated histone binding]
GO:0035197 [siRNA binding]
GO:0035198 [miRNA binding]
GO:0035613 [RNA stem-loop binding]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043022 [ribosome binding]
GO:0043025 [neuronal cell body]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0043232 [intracellular non-membrane-bounded organelle]
GO:0043488 [regulation of mRNA stability]
GO:0043679 [axon terminus]
GO:0044325 [transmembrane transporter binding]
GO:0044326 [dendritic spine neck]
GO:0044830 [modulation by host of viral RNA genome replication]
GO:0045182 [translation regulator activity]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0045727 [positive regulation of translation]
GO:0045947 [negative regulation of translational initiation]
GO:0046928 [regulation of neurotransmitter secretion]
GO:0046982 [protein heterodimerization activity]
GO:0048027 [mRNA 5'-UTR binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0051489 [regulation of filopodium assembly]
GO:0051491 [positive regulation of filopodium assembly]
GO:0060964 [regulation of miRNA-mediated gene silencing]
GO:0060998 [regulation of dendritic spine development]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070840 [dynein complex binding]
GO:0071598 [neuronal ribonucleoprotein granule]
GO:0097386 [glial cell projection]
GO:0098586 [cellular response to virus]
GO:0098793 [presynapse]
GO:0098794 [postsynapse]
GO:0098908 [regulation of neuronal action potential]
GO:0140693 [molecular condensate scaffold activity]
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:1902737 [dendritic filopodium]
GO:1990124 [messenger ribonucleoprotein complex]
GO:1990812 [growth cone filopodium]
GO:1990825 [sequence-specific mRNA binding]
GO:1990904 [ribonucleoprotein complex]
GO:2000301 [negative regulation of synaptic vesicle exocytosis]
GO:2000637 [positive regulation of miRNA-mediated gene silencing]
GO:2000766 [negative regulation of cytoplasmic translation]
GO:2001022 [positive regulation of response to DNA damage stimulus]
Show all
 615 aa
69.2 kDa 		No 0
FMR1-227
ENSP00000510631
ENST00000690216
A0A8I5KZ21
[Direct mapping] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000775 [chromosome, centromeric region]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005634 [nucleus]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006397 [mRNA processing]
GO:0006417 [regulation of translation]
GO:0007399 [nervous system development]
GO:0008380 [RNA splicing]
GO:0016020 [membrane]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0032433 [filopodium tip]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0045202 [synapse]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0097060 [synaptic membrane]
GO:1990904 [ribonucleoprotein complex]
Show all
 587 aa
66.2 kDa 		No 0
FMR1-228
ENSP00000509552
ENST00000691111
A0A8I5KS01
[Direct mapping] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000775 [chromosome, centromeric region]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005634 [nucleus]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006397 [mRNA processing]
GO:0006417 [regulation of translation]
GO:0007399 [nervous system development]
GO:0008380 [RNA splicing]
GO:0016020 [membrane]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0032433 [filopodium tip]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0045202 [synapse]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0097060 [synaptic membrane]
GO:1990904 [ribonucleoprotein complex]
Show all
 599 aa
67.8 kDa 		No 0
FMR1-229
ENSP00000510362
ENST00000691214
A0A8I5KT56
[Direct mapping] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000775 [chromosome, centromeric region]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005634 [nucleus]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006397 [mRNA processing]
GO:0006417 [regulation of translation]
GO:0007399 [nervous system development]
GO:0008380 [RNA splicing]
GO:0016020 [membrane]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0032433 [filopodium tip]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0045202 [synapse]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0097060 [synaptic membrane]
GO:1990904 [ribonucleoprotein complex]
Show all
 569 aa
64.3 kDa 		No 0
FMR1-232
ENSP00000508963
ENST00000692108
A0A8I5KUC2
[Direct mapping] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000775 [chromosome, centromeric region]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005634 [nucleus]
GO:0005694 [chromosome]
GO:0005730 [nucleolus]
GO:0005886 [plasma membrane]
GO:0006397 [mRNA processing]
GO:0006417 [regulation of translation]
GO:0007399 [nervous system development]
GO:0008380 [RNA splicing]
GO:0016020 [membrane]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0032433 [filopodium tip]
GO:0036464 [cytoplasmic ribonucleoprotein granule]
GO:0042734 [presynaptic membrane]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043197 [dendritic spine]
GO:0043204 [perikaryon]
GO:0045202 [synapse]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051028 [mRNA transport]
GO:0097060 [synaptic membrane]
GO:1990904 [ribonucleoprotein complex]
Show all
 509 aa
57 kDa 		No 0
FMR1-235
ENSP00000509589
ENST00000693512
A0A8I5KYA7
[Direct mapping] Synaptic functional regulator FMR1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other congenital disorders
   Chromosomal abnormalities
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0003729 [mRNA binding]
GO:0005737 [cytoplasm]
GO:0006417 [regulation of translation]
Show all
 398 aa
45.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
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contact@proteinatlas.org