UniProtKB - Q06787 (FMR1_HUMAN)
Synaptic functional regulator FMR1
FMR1
Functioni
Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic local protein synthesis of a subset of mRNAs (PubMed:16631377, PubMed:18653529, PubMed:19166269, PubMed:23235829, PubMed:25464849).
Plays a role in the alternative splicing of its own mRNA (PubMed:18653529).
Plays a role in mRNA nuclear export (By similarity).
Together with export factor NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons (By similarity).
Stabilizes the scaffolding postsynaptic density protein DLG4/PSD-95 and the myelin basic protein (MBP) mRNAs in hippocampal neurons and glial cells, respectively; this stabilization is further increased in response to metabotropic glutamate receptor (mGluR) stimulation (By similarity).
Plays a role in selective delivery of a subset of dendritic mRNAs to synaptic sites in response to mGluR activation in a kinesin-dependent manner (By similarity).
Plays a role as a repressor of mRNA translation during the transport of dendritic mRNAs to postsynaptic dendritic spines (PubMed:11532944, PubMed:11157796, PubMed:12594214, PubMed:23235829).
Component of the CYFIP1-EIF4E-FMR1 complex which blocks cap-dependent mRNA translation initiation (By similarity).
Represses mRNA translation by stalling ribosomal translocation during elongation (By similarity).
Reports are contradictory with regards to its ability to mediate translation inhibition of MBP mRNA in oligodendrocytes (PubMed:23891804).
Also involved in the recruitment of the RNA helicase MOV10 to a subset of mRNAs and hence regulates microRNA (miRNA)-mediated translational repression by AGO2 (PubMed:14703574, PubMed:17057366, PubMed:25464849).
Facilitates the assembly of miRNAs on specific target mRNAs (PubMed:17057366).
Plays also a role as an activator of mRNA translation of a subset of dendritic mRNAs at synapses (PubMed:19097999, PubMed:19166269).
In response to mGluR stimulation, FMR1-target mRNAs are rapidly derepressed, allowing for local translation at synapses (By similarity).
Binds to a large subset of dendritic mRNAs that encode a myriad of proteins involved in pre- and postsynaptic functions (PubMed:7692601, PubMed:11719189, PubMed:11157796, PubMed:12594214, PubMed:17417632, PubMed:23235829, PubMed:24448548).
Binds to 5'-ACU[GU]-3' and/or 5'-[AU]GGA-3' RNA consensus sequences within mRNA targets, mainly at coding sequence (CDS) and 3'-untranslated region (UTR) and less frequently at 5'-UTR (PubMed:23235829).
Binds to intramolecular G-quadruplex structures in the 5'- or 3'-UTRs of mRNA targets (PubMed:11719189, PubMed:18579868, PubMed:25464849, PubMed:25692235).
Binds to G-quadruplex structures in the 3'-UTR of its own mRNA (PubMed:7692601, PubMed:11532944, PubMed:12594214, PubMed:15282548, PubMed:18653529).
Binds also to RNA ligands harboring a kissing complex (kc) structure; this binding may mediate the association of FMR1 with polyribosomes (PubMed:15805463).
Binds mRNAs containing U-rich target sequences (PubMed:12927206).
Binds to a triple stem-loop RNA structure, called Sod1 stem loop interacting with FMRP (SoSLIP), in the 5'-UTR region of superoxide dismutase SOD1 mRNA (PubMed:19166269).
Binds to the dendritic, small non-coding brain cytoplasmic RNA 1 (BC1); which may increase the association of the CYFIP1-EIF4E-FMR1 complex to FMR1 target mRNAs at synapses (By similarity).
Associates with export factor NXF1 mRNA-containing ribonucleoprotein particles (mRNPs) in a NXF2-dependent manner (By similarity).
Binds to a subset of miRNAs in the brain (PubMed:14703574, PubMed:17057366).
May associate with nascent transcripts in a nuclear protein NXF1-dependent manner (PubMed:18936162).
In vitro, binds to RNA homomer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:7688265, PubMed:7781595, PubMed:12950170, PubMed:15381419, PubMed:8156595).
Moreover, plays a role in the modulation of the sodium-activated potassium channel KCNT1 gating activity (PubMed:20512134).
Negatively regulates the voltage-dependent calcium channel current density in soma and presynaptic terminals of dorsal root ganglion (DRG) neurons, and hence regulates synaptic vesicle exocytosis (By similarity).
Modulates the voltage-dependent calcium channel CACNA1B expression at the plasma membrane by targeting the channels for proteosomal degradation (By similarity).
Plays a role in regulation of MAP1B-dependent microtubule dynamics during neuronal development (By similarity).
Recently, has been shown to play a translation-independent role in the modulation of presynaptic action potential (AP) duration and neurotransmitter release via large-conductance calcium-activated potassium (BK) channels in hippocampal and cortical excitatory neurons (PubMed:25561520).
Finally, FMR1 may be involved in the control of DNA damage response (DDR) mechanisms through the regulation of ATR-dependent signaling pathways such as histone H2AX/H2A.x and BRCA1 phosphorylations (PubMed:24813610).
By similarity30 PublicationsBinds to RNA homomer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304).
May bind to RNA in Cajal bodies (PubMed:24204304).
1 PublicationBinds to RNA homomer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304).
May bind to RNA in Cajal bodies (PubMed:24204304).
1 Publication(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.
1 PublicationMiscellaneous
GO - Molecular functioni
- chromatin binding Source: UniProtKB
- dynein complex binding Source: UniProtKB
- G-quadruplex RNA binding Source: UniProtKB
- identical protein binding Source: UniProtKB
- methylated histone binding Source: UniProtKB
- microtubule binding Source: UniProtKB
- miRNA binding Source: UniProtKB
- mRNA 3'-UTR binding Source: UniProtKB
- mRNA 5'-UTR binding Source: UniProtKB
- mRNA binding Source: UniProtKB
- poly(G) binding Source: UniProtKB
- poly(U) RNA binding Source: UniProtKB
- protein heterodimerization activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- ribosome binding Source: UniProtKB
- RNA binding Source: UniProtKB
- RNA stem-loop binding Source: UniProtKB
- RNA strand annealing activity Source: UniProtKB
- sequence-specific mRNA binding Source: UniProtKB
- siRNA binding Source: UniProtKB
- translation initiation factor binding Source: UniProtKB
- translation regulator activity Source: GO_Central
- translation repressor activity Source: UniProtKB
- transmembrane transporter binding Source: UniProtKB
GO - Biological processi
- cellular response to DNA damage stimulus Source: UniProtKB
- cellular response to hydroxyurea Source: UniProtKB
- cellular response to UV Source: UniProtKB
- cellular response to virus Source: UniProtKB
- gene silencing by RNA Source: UniProtKB-KW
- glutamate receptor signaling pathway Source: UniProtKB
- modulation by host of viral RNA genome replication Source: UniProtKB
- mRNA processing Source: UniProtKB-KW
- mRNA transport Source: UniProtKB
- negative regulation of cytoplasmic translation Source: UniProtKB
- negative regulation of long-term synaptic depression Source: UniProtKB
- negative regulation of mRNA catabolic process Source: CAFA
- negative regulation of synaptic vesicle exocytosis Source: UniProtKB
- negative regulation of translation Source: GO_Central
- negative regulation of translational initiation Source: UniProtKB
- negative regulation of voltage-gated calcium channel activity Source: UniProtKB
- nervous system development Source: UniProtKB-KW
- positive regulation of dendritic spine development Source: UniProtKB
- positive regulation of filopodium assembly Source: UniProtKB
- positive regulation of gene silencing by miRNA Source: UniProtKB
- positive regulation of histone phosphorylation Source: UniProtKB
- positive regulation of intracellular transport of viral material Source: UniProtKB
- positive regulation of mRNA binding Source: UniProtKB
- positive regulation of proteasomal protein catabolic process Source: UniProtKB
- positive regulation of protein phosphorylation Source: GO_Central
- positive regulation of receptor internalization Source: UniProtKB
- positive regulation of response to DNA damage stimulus Source: UniProtKB
- positive regulation of translation Source: UniProtKB
- regulation of alternative mRNA splicing, via spliceosome Source: UniProtKB
- regulation of dendritic spine development Source: UniProtKB
- regulation of filopodium assembly Source: UniProtKB
- regulation of gene silencing by miRNA Source: UniProtKB
- regulation of mRNA stability Source: UniProtKB
- regulation of neuronal action potential Source: UniProtKB
- regulation of neurotransmitter secretion Source: UniProtKB
- RNA splicing Source: UniProtKB-KW
Keywordsi
Molecular function | Activator, Repressor, Ribonucleoprotein, RNA-binding |
Biological process | DNA damage, Host-virus interaction, mRNA processing, mRNA splicing, mRNA transport, Neurogenesis, RNA-mediated gene silencing, Translation regulation, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q06787 |
SignaLinki | Q06787 |
SIGNORi | Q06787 |
Names & Taxonomyi
Protein namesi | Recommended name: Synaptic functional regulator FMR1CuratedAlternative name(s): Fragile X mental retardation protein 1Imported Short name: FMRP1 Publication Short name: Protein FMR-11 Publication |
Gene namesi | Name:FMR1Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3775, FMR1 |
MIMi | 309550, gene |
neXtProti | NX_Q06787 |
VEuPathDBi | HostDB:ENSG00000102081 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 7 Publications
Plasma membrane
- postsynaptic cell membrane By similarity
- presynaptic cell membrane By similarity
- Cell membrane By similarity
Nucleus
Other locations
- centromere By similarity
- Chromosome By similarity
- perinuclear region 1 Publication
- Cytoplasmic ribonucleoprotein granule 6 Publications
- Perikaryon 3 Publications
- neuron projection 3 Publications
- axon By similarity
- dendrite By similarity
- dendritic spine By similarity
- synaptosome By similarity
- growth cone 1 Publication
- filopodium tip By similarity
- synapse By similarity
- Stress granule 3 Publications
Note: Colocalizes with H2AX/H2A.x in pericentromeric heterochromatin in response to DNA damaging agents (By similarity). Localizes on meiotic pachytene-stage chromosomes (By similarity). Forms nuclear foci representing sites of ongoing DNA replication in response to DNA damaging agents (By similarity). Shuttles between nucleus and cytoplasm in a XPO1/CRM1-dependent manner (PubMed:10196376). Localizes to cytoplasmic ribonucleoprotein granules, also referred to as messenger ribonucleoprotein particles or mRNPs, along dendrites and dendritic spines (PubMed:9659908, PubMed:14532325). FMR1-containing cytoplasmic granules colocalize to F-actin-rich structures, including filopodium, spines and growth cone during the development of hippocampal neurons (By similarity). FMR1-containing cytoplasmic granules are transported out of the soma along axon and dendrite to synaptic contacts in a microtubule- and kinesin-dependent manner (PubMed:12417734, PubMed:15380484). Colocalizes with CACNA1B in the cytoplasm and at the cell membrane of neurons (By similarity). Colocalizes with CYFIP1, CYFIP2, NXF2 and ribosomes in the perinuclear region (By similarity). Colocalizes with CYFIP1 and EIF4E in dendrites and probably at synapses (By similarity). Colocalizes with FXR1, kinesin, 60S acidic ribosomal protein RPLP0 and SMN in cytoplasmic granules in the soma and neurite cell processes (PubMed:12417734, PubMed:18093976, PubMed:16636078). Colocalizes with FXR1 and FXR2 in discrete granules, called fragile X granules (FXGs), along axon and presynaptic compartments (By similarity). Colocalizes with TDRD3 in cytoplasmic stress granules (SGs) in response to various cellular stress (PubMed:18632687, PubMed:18664458, PubMed:16636078).By similarity9 Publications
Cytoplasm and Cytosol
- Cytoplasm 2 Publications
Other locations
- perinuclear region 1 Publication
Cytoplasm and Cytosol
- Cytoplasm 2 Publications
Nucleus
- Nucleus 1 Publication
- Cajal body 1 Publication
Note: Colocalizes with Colin and SMN in Cajal bodies (PubMed:24204304).
Nucleus
- Nucleus 1 Publication
- Cajal body 1 Publication
Cytosol
- cytosol Source: HPA
Nucleus
- Cajal body Source: UniProtKB
- nucleolus Source: UniProtKB
- nucleoplasm Source: UniProtKB
- nucleus Source: UniProtKB
Plasma Membrane
- extrinsic component of plasma membrane Source: UniProtKB
- postsynaptic membrane Source: UniProtKB-SubCell
- presynaptic membrane Source: UniProtKB-SubCell
Other locations
- axon Source: UniProtKB
- axon terminus Source: UniProtKB
- cell projection Source: UniProtKB
- chromocenter Source: UniProtKB
- chromosome Source: UniProtKB
- chromosome, centromeric region Source: UniProtKB-SubCell
- cytoplasm Source: UniProtKB
- cytoplasmic ribonucleoprotein granule Source: UniProtKB
- cytoplasmic stress granule Source: UniProtKB-SubCell
- dendrite Source: UniProtKB
- dendritic filopodium Source: UniProtKB
- dendritic spine Source: UniProtKB
- dendritic spine neck Source: GO_Central
- filopodium tip Source: UniProtKB
- glial cell projection Source: UniProtKB
- growth cone Source: UniProtKB
- growth cone filopodium Source: UniProtKB
- membrane Source: UniProtKB
- messenger ribonucleoprotein complex Source: CAFA
- mRNA cap binding complex Source: UniProtKB
- neuron projection Source: UniProtKB
- neuronal cell body Source: GO_Central
- neuronal ribonucleoprotein granule Source: UniProtKB
- perikaryon Source: UniProtKB
- perinuclear region of cytoplasm Source: UniProtKB
- polysome Source: UniProtKB
- postsynapse Source: UniProtKB
- postsynaptic density Source: UniProtKB
- presynapse Source: UniProtKB
- ribonucleoprotein complex Source: UniProtKB
- synapse Source: UniProtKB
Keywords - Cellular componenti
Cell junction, Cell membrane, Cell projection, Centromere, Chromosome, Cytoplasm, Membrane, Nucleus, Postsynaptic cell membrane, Synapse, SynaptosomePathology & Biotechi
Involvement in diseasei
Fragile X syndrome (FXS)19 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064507 | 138 | R → Q in FXS; rare variant found in a developmentally delayed male; inhibits nucleosome binding; reduces interaction with KCNMB4; inhibits presynaptic action potential (AP) broadening; does not alter postsynaptic RNA-binding and polyribosome association. 3 PublicationsCorresponds to variant dbSNP:rs200163413Ensembl. | 1 | |
Natural variantiVAR_075977 | 266 | G → E in FXS; reduces association with polyribosome; reduces RNA-binding. 1 PublicationCorresponds to variant dbSNP:rs1569545763EnsemblClinVar. | 1 | |
Natural variantiVAR_005234 | 304 | I → N in FXS; alters protein folding and stability; increases nucleocytoplasmic shuttling; reduces localization in Cajal bodies; reduces the association with cytoplasmic granules; reduces association with polyribosome; reduces RNA-binding; attenuates mRNA translation repression; impairs homooligomerization; reduces interaction with TDRD3; reduces interaction with viral influenza A nucleoprotein (NP); does not inhibit interaction with SMN1, FXR1 and FXR2. 14 PublicationsCorresponds to variant dbSNP:rs121434622EnsemblClinVar. | 1 |
Fragile X tremor/ataxia syndrome (FXTAS)1 Publication
Premature ovarian failure 1 (POF1)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 102 | T → A: Reduces binding to nucleosome. 1 Publication | 1 | |
Mutagenesisi | 103 | Y → L: Reduces binding to nucleosome. 1 Publication | 1 | |
Mutagenesisi | 125 – 126 | TF → AA: Alters the structural integrity of the N-terminus and leads to aggregation. 1 Publication | 2 | |
Mutagenesisi | 500 | S → A: Loss of phosphorylation. Does not affect interaction with MCRS1. Does not affect localization to cytoplasmic granules. Does not affect association with polyribosome. 3 Publications | 1 | |
Mutagenesisi | 500 | S → D: Does not affect RNA-binding to G-quadruplex structure. 1 Publication | 1 | |
Mutagenesisi | 527 – 534 | RRGDGRRR → EEGDGEEE: Reduces nucleolar localization. Strongly reduces nucleolar localization; when associated with 613-E--E-617. 1 Publication | 8 | |
Mutagenesisi | 544 | R → K: Reduces arginine methylation by 80%. 1 Publication | 1 | |
Mutagenesisi | 546 | R → K: Slightly reduced methylation. 1 Publication | 1 | |
Mutagenesisi | 613 – 617 | QKKEK → EEEEE: Reduces nucleolar localization. Strongly reduces nucleolar localization; when associated with 527-E--E-534. 1 Publication | 5 |
Keywords - Diseasei
Disease variant, Mental retardation, Premature ovarian failureOrganism-specific databases
DisGeNETi | 2332 |
GeneReviewsi | FMR1 |
MalaCardsi | FMR1 |
MIMi | 300623, phenotype 300624, phenotype 311360, phenotype 616034, phenotype |
OpenTargetsi | ENSG00000102081 |
Orphaneti | 908, Fragile X syndrome 93256, Fragile X-associated tremor/ataxia syndrome 619, NON RARE IN EUROPE: Primary ovarian failure 449291, Symptomatic form of fragile X syndrome in female carriers 261483, Xq27.3q28 duplication syndrome |
PharmGKBi | PA28191 |
Miscellaneous databases
Pharosi | Q06787, Tbio |
Genetic variation databases
BioMutai | FMR1 |
DMDMi | 544328 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000050102 | 1 – 632 | Synaptic functional regulator FMR1Add BLAST | 632 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 337 | PhosphoserineBy similarity | 1 | |
Modified residuei | 370 | PhosphoserineCombined sources | 1 | |
Modified residuei | 463 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 471 | Omega-N-methylarginineBy similarity | 1 | |
Modified residuei | 500 | PhosphoserineCombined sources1 Publication | 1 | |
Modified residuei | 534 | Asymmetric dimethylarginine; alternateBy similarity | 1 | |
Modified residuei | 534 | Omega-N-methylarginine; alternateBy similarity | 1 | |
Modified residuei | 539 | Asymmetric dimethylarginine; alternateBy similarity | 1 | |
Modified residuei | 539 | Omega-N-methylarginine; alternateBy similarity | 1 | |
Modified residuei | 544 | Asymmetric dimethylarginine; alternateBy similarity | 1 | |
Modified residuei | 544 | Omega-N-methylarginine1 Publication | 1 | |
Modified residuei | 544 | Omega-N-methylarginine; alternateBy similarity | 1 | |
Modified residuei | 546 | Asymmetric dimethylarginine; alternateBy similarity | 1 | |
Modified residuei | 546 | Omega-N-methylarginine; alternateBy similarity | 1 | |
Modified residuei | 620 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, Methylation, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q06787 |
jPOSTi | Q06787 |
MassIVEi | Q06787 |
MaxQBi | Q06787 |
PaxDbi | Q06787 |
PeptideAtlasi | Q06787 |
PRIDEi | Q06787 |
ProteomicsDBi | 34152 58477 [Q06787-1] 58478 [Q06787-2] 58479 [Q06787-3] 58480 [Q06787-4] 58481 [Q06787-5] 58482 [Q06787-6] 58483 [Q06787-7] 58484 [Q06787-8] |
PTM databases
GlyGeni | Q06787, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q06787 |
MetOSitei | Q06787 |
PhosphoSitePlusi | Q06787 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000102081, Expressed in female gonad and 249 other tissues |
ExpressionAtlasi | Q06787, baseline and differential |
Genevisiblei | Q06787, HS |
Organism-specific databases
HPAi | ENSG00000102081, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer (PubMed:7489725, PubMed:12950170, PubMed:16636078). Forms heterodimer with FXR1; heterodimerization occurs in a methylation-dependent manner (PubMed:7489725, PubMed:11157796, PubMed:16636078). Forms heterodimer with FXR2 (PubMed:7489725, PubMed:11157796). Homooligomer (PubMed:11157796, PubMed:18664458).
Component of the CYFIP1-EIF4E-FMR1 complex at least composed of CYFIP, EIF4E and FMR1; this mRNA cap binding complex formation increases in presence of the brain cytoplasmic RNA BC1 and is dynamically regulated in an activity-dependent manner to repress and then possibly release dendritic mRNAs for translation in response to mGluR stimulation (By similarity). Associates with the SMN core complex that contains SMN, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP (PubMed:18093976).
Part of a ribonucleoprotein complex with AGO2/EIF2C2 and miRNAs (PubMed:14703574).
Interacts with AGO2/EIF2C2 (PubMed:14703574).
Interacts (via C-terminus) with CACNA1B; this interaction induces a decrease in the number of presynaptic functional CACNA1B channels at the cell surface (By similarity).
Interacts with CYFIP1; this interaction recruits CYFIP1 to capped mRNA (By similarity).
Interacts with CYFIP2 (By similarity).
Interacts with EIF5; this interaction occurs in a RNA-dependent manner (By similarity).
Interacts with dynein (By similarity).
Interacts with FXR1 and FXR2 (PubMed:8668200, PubMed:14532325, PubMed:15380484).
Interacts with methylated histone H3 (PubMed:24813610).
Interacts with IGF2BP1; this interaction allows to recruit IGF2BP1 to mRNA in a FMR1-dependent manner (PubMed:15282548).
Interacts (via N-terminus) with KCNMB4 (PubMed:25561520).
Interacts with KCNT1 (via C-terminus); this interaction alters gating properties of KCNT1 (PubMed:20512134).
Interacts (via phosphorylated form) with MCRS1 (via N-terminus) (PubMed:16571602).
Interacts with MOV10; this interaction is direct, occurs in an RNA-dependent manner on polysomes and induces association of MOV10 with RNAs (PubMed:25464849).
Interacts with MYO5A and PURA; these interactions occur in association with polyribosome (By similarity).
Interacts with NCL (By similarity).
Interacts with NUFIP1 (PubMed:10556305).
Interacts (via N-terminus) with NUFIP2 (PubMed:12837692, PubMed:16407062).
Interacts with NXF1; this interaction occurs in a mRNA-dependent and polyribosome-independent manner in the nucleus (PubMed:18936162).
Interacts with NXF2 (via N-terminus); this interaction is direct and occurs in a NXF1 mRNA-containing mRNP complexes (By similarity).
Interacts with RANBP9 (via C-terminus); this interaction is direct and inhibits binding of FMR1 to RNA homomer (PubMed:15381419).
Interacts with RPLP0 (PubMed:15380484).
Interacts (via C-terminus) with SMN (via C-terminus); this interaction is direct and occurs in a RNA-independent manner (PubMed:18093976).
Interacts with TDRD3 (via C-terminus); this interaction is direct (PubMed:18632687, PubMed:18664458).
Interacts with YBX1; this interaction occurs in association with polyribosome (By similarity).
Interacts with nucleosome (PubMed:24813610). Associates with polyribosome; this association occurs in a mRNA-dependent manner (PubMed:9659908, PubMed:11719188, PubMed:12594214, PubMed:19097999, PubMed:24448548). Associates with cytoplasmic messenger ribonucleoprotein particles (mRNPs) (PubMed:7692601, PubMed:9659908, PubMed:12575950, PubMed:19097999). Associates with microtubules in a kinesin- and dynein-dependent manner (By similarity). Isoform 6 interacts (via N-terminus) with NCL (via C-terminus) (PubMed:24658146).
Isoform 6 interacts with CYFIP2; this interaction occurs in a RNA-dependent manner (PubMed:24658146).
Isoform 6 interacts with EIF5; this interaction occurs in a RNA-dependent manner (PubMed:24658146).
Isoform 6 interacts with RPLP0 (PubMed:24658146).
Interacts with HABP4 (PubMed:21771594).
Interacts with SND1 (PubMed:14508492).
By similarity32 Publications(Microbial infection) Interacts (via KH 2 domain) with influenza A nucleoprotein (NP); this interaction occurs in a RNA-dependent manner and stimulates viral ribonucleoprotein (vRNP) assembly and subsequent RNA synthesis.
1 Publication(Microbial infection) Interacts with Sindbis virus non-structural protein 3 (via C-terminus); this interaction inhibits the formation of host stress granules on viral mRNAs and the nsp3-FMR1 complexes bind viral RNAs and probably orchestrate the assembly of viral replication complexes.
1 PublicationBinary interactionsi
Q06787
Isoform 7 [Q06787-7]
Isoform 8 [Q06787-8]
With | #Exp. | IntAct |
---|---|---|
FSD2 [A1L4K1] | 3 | EBI-10224470,EBI-5661036 |
FXR2 [P51116] | 3 | EBI-10224470,EBI-740459 |
GO - Molecular functioni
- identical protein binding Source: UniProtKB
- methylated histone binding Source: UniProtKB
- microtubule binding Source: UniProtKB
- protein heterodimerization activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- translation initiation factor binding Source: UniProtKB
- transmembrane transporter binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 108619, 238 interactors |
DIPi | DIP-29509N |
IntActi | Q06787, 358 interactors |
MINTi | Q06787 |
STRINGi | 9606.ENSP00000359506 |
Miscellaneous databases
RNActi | Q06787, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q06787 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q06787 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 4 – 50 | Agenet-like 1PROSITE-ProRule annotationAdd BLAST | 47 | |
Domaini | 63 – 115 | Agenet-like 2PROSITE-ProRule annotationAdd BLAST | 53 | |
Domaini | 222 – 251 | KH 1PROSITE-ProRule annotationAdd BLAST | 30 | |
Domaini | 285 – 314 | KH 2PROSITE-ProRule annotationAdd BLAST | 30 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 184 | Required for nuclear localizationBy similarityAdd BLAST | 184 | |
Regioni | 172 – 211 | Necessary for interaction with CYFIP1, CYFIP2, FXR1 and FXR2By similarity2 PublicationsAdd BLAST | 40 | |
Regioni | 325 – 349 | DisorderedSequence analysisAdd BLAST | 25 | |
Regioni | 397 – 491 | Required for nuclear export2 PublicationsAdd BLAST | 95 | |
Regioni | 419 – 632 | Interaction with RANBP91 PublicationAdd BLAST | 214 | |
Regioni | 443 – 632 | DisorderedSequence analysisAdd BLAST | 190 | |
Regioni | 534 – 548 | RNA-binding RGG-boxAdd BLAST | 15 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 424 – 443 | Nuclear export signalBy similarityAdd BLAST | 20 | |
Motifi | 527 – 534 | Nucleolar localization signal 11 Publication | 8 | |
Motifi | 613 – 617 | Nucleolar localization signal 21 Publication | 5 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 500 – 537 | Basic and acidic residuesSequence analysisAdd BLAST | 38 | |
Compositional biasi | 549 – 571 | Basic and acidic residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 578 – 603 | Polar residuesSequence analysisAdd BLAST | 26 | |
Compositional biasi | 604 – 621 | Basic and acidic residuesSequence analysisAdd BLAST | 18 |
Domaini
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | ENOG502QPKJ, Eukaryota |
GeneTreei | ENSGT00950000183189 |
HOGENOMi | CLU_020699_4_0_1 |
InParanoidi | Q06787 |
OMAi | IGNDDHS |
OrthoDBi | 374073at2759 |
PhylomeDBi | Q06787 |
TreeFami | TF105427 |
Family and domain databases
DisProti | DP00134 |
Gene3Di | 3.30.1370.10, 3 hits |
InterProi | View protein in InterPro IPR008395, Agenet-like_dom IPR040148, FMR1 IPR040472, FMRP_KH0 IPR032196, FXMR_C2 IPR022034, FXMRP1_C_core IPR004087, KH_dom IPR004088, KH_dom_type_1 IPR036612, KH_dom_type_1_sf IPR041560, Tudor_FRX1 |
PANTHERi | PTHR10603, PTHR10603, 1 hit |
Pfami | View protein in Pfam PF05641, Agenet, 1 hit PF16098, FXMR_C2, 1 hit PF12235, FXMRP1_C_core, 1 hit PF00013, KH_1, 2 hits PF17904, KH_9, 1 hit PF18336, Tudor_FRX1, 1 hit |
SMARTi | View protein in SMART SM00322, KH, 2 hits |
SUPFAMi | SSF54791, SSF54791, 2 hits |
PROSITEi | View protein in PROSITE PS51641, AGENET_LIKE, 2 hits PS50084, KH_TYPE_1, 2 hits |
s (11+)i Sequence
Sequence statusi: Complete.
This entry describes 11 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 11 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEELVVEVRG SNGAFYKAFV KDVHEDSITV AFENNWQPDR QIPFHDVRFP
60 70 80 90 100
PPVGYNKDIN ESDEVEVYSR ANEKEPCCWW LAKVRMIKGE FYVIEYAACD
110 120 130 140 150
ATYNEIVTIE RLRSVNPNKP ATKDTFHKIK LDVPEDLRQM CAKEAAHKDF
160 170 180 190 200
KKAVGAFSVT YDPENYQLVI LSINEVTSKR AHMLIDMHFR SLRTKLSLIM
210 220 230 240 250
RNEEASKQLE SSRQLASRFH EQFIVREDLM GLAIGTHGAN IQQARKVPGV
260 270 280 290 300
TAIDLDEDTC TFHIYGEDQD AVKKARSFLE FAEDVIQVPR NLVGKVIGKN
310 320 330 340 350
GKLIQEIVDK SGVVRVRIEA ENEKNVPQEE EIMPPNSLPS NNSRVGPNAP
360 370 380 390 400
EEKKHLDIKE NSTHFSQPNS TKVQRVLVAS SVVAGESQKP ELKAWQGMVP
410 420 430 440 450
FVFVGTKDSI ANATVLLDYH LNYLKEVDQL RLERLQIDEQ LRQIGASSRP
460 470 480 490 500
PPNRTDKEKS YVTDDGQGMG RGSRPYRNRG HGRRGPGYTS GTNSEASNAS
510 520 530 540 550
ETESDHRDEL SDWSLAPTEE ERESFLRRGD GRRRGGGGRG QGGRGRGGGF
560 570 580 590 600
KGNDDHSRTD NRPRNPREAK GRTTDGSLQI RVDCNNERSV HTKTLQNTSS
610 620 630
EGSRLRTGKD RNQKKEKPDS VDGQQPLVNG VP
The sequence of this isoform differs from the canonical sequence as follows:
426-632: EVDQLRLERL...GQQPLVNGVP → LQQRKRGRAS...QTAWMVSNHS
The sequence of this isoform differs from the canonical sequence as follows:
376-396: Missing.
426-632: EVDQLRLERL...GQQPLVNGVP → LQQRKRGRAS...QTAWMVSNHS
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA8MQB8 | A8MQB8_HUMAN | Synaptic functional regulator FMR1 | FMR1 | 582 | Annotation score: | ||
G3V0J0 | G3V0J0_HUMAN | Synaptic functional regulator FMR1 | FMR1 hCG_18633 | 592 | Annotation score: | ||
R9WNI0 | R9WNI0_HUMAN | Synaptic functional regulator FMR1 | FMR1 | 544 | Annotation score: | ||
Q8IXW7 | Q8IXW7_HUMAN | FMR1 protein | FMR1 | 297 | Annotation score: | ||
A0A087WXI3 | A0A087WXI3_HUMAN | Synaptic functional regulator FMR1 | FMR1 | 419 | Annotation score: | ||
A0A087WXC0 | A0A087WXC0_HUMAN | Synaptic functional regulator FMR1 | FMR1 | 119 | Annotation score: | ||
A0A087WY29 | A0A087WY29_HUMAN | Synaptic functional regulator FMR1 | FMR1 | 252 | Annotation score: | ||
A0A087WWU4 | A0A087WWU4_HUMAN | Synaptic functional regulator FMR1 | FMR1 | 76 | Annotation score: | ||
A0A087WWR6 | A0A087WWR6_HUMAN | Synaptic functional regulator FMR1 | FMR1 | 102 | Annotation score: | ||
A0A087X1M7 | A0A087X1M7_HUMAN | Synaptic functional regulator FMR1 | FMR1 | 31 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 294 – 295 | Missing in AAA52458 (PubMed:1710175).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064507 | 138 | R → Q in FXS; rare variant found in a developmentally delayed male; inhibits nucleosome binding; reduces interaction with KCNMB4; inhibits presynaptic action potential (AP) broadening; does not alter postsynaptic RNA-binding and polyribosome association. 3 PublicationsCorresponds to variant dbSNP:rs200163413Ensembl. | 1 | |
Natural variantiVAR_029278 | 145 | A → S. Corresponds to variant dbSNP:rs29281EnsemblClinVar. | 1 | |
Natural variantiVAR_075977 | 266 | G → E in FXS; reduces association with polyribosome; reduces RNA-binding. 1 PublicationCorresponds to variant dbSNP:rs1569545763EnsemblClinVar. | 1 | |
Natural variantiVAR_005234 | 304 | I → N in FXS; alters protein folding and stability; increases nucleocytoplasmic shuttling; reduces localization in Cajal bodies; reduces the association with cytoplasmic granules; reduces association with polyribosome; reduces RNA-binding; attenuates mRNA translation repression; impairs homooligomerization; reduces interaction with TDRD3; reduces interaction with viral influenza A nucleoprotein (NP); does not inhibit interaction with SMN1, FXR1 and FXR2. 14 PublicationsCorresponds to variant dbSNP:rs121434622EnsemblClinVar. | 1 | |
Natural variantiVAR_005235 | 546 | R → H1 PublicationCorresponds to variant dbSNP:rs782651077Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_002823 | 376 – 396 | Missing in isoform 1, isoform 8, isoform 9 and isoform 11. 3 PublicationsAdd BLAST | 21 | |
Alternative sequenceiVSP_058423 | 426 – 632 | EVDQL…VNGVP → LQQRKRGRASCAEETDGGVE GEEEDKEEEDVEEASKETTI TPEQIIVHVIQERLKEEQQM DPFRSELTAIMKGVSTLKHY RIPPVKVVGCARVKIVTRRK RSQTAWMVSNHS in isoform 10 and isoform 11. 1 PublicationAdd BLAST | 207 | |
Alternative sequenceiVSP_002825 | 491 – 515 | Missing in isoform 4, isoform 5 and isoform 8. 1 PublicationAdd BLAST | 25 | |
Alternative sequenceiVSP_002824 | 491 – 502 | Missing in isoform 2 and isoform 3. CuratedAdd BLAST | 12 | |
Alternative sequenceiVSP_002826 | 580 – 596 | Missing in isoform 1, isoform 3, isoform 5 and isoform 7. CuratedAdd BLAST | 17 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L29074 Genomic DNA Translation: AAB18828.1 L29074 Genomic DNA Translation: AAB18829.1 L29074 Genomic DNA Translation: AAB18830.1 L29074 Genomic DNA Translation: AAB18831.1 L29074 Genomic DNA Translation: AAB18832.1 L29074 Genomic DNA Translation: AAB18833.1 KJ534836 mRNA Translation: AHW56476.1 CH471171 Genomic DNA Translation: EAW61294.1 CH471171 Genomic DNA Translation: EAW61296.1 CH471171 Genomic DNA Translation: EAW61298.1 CH471171 Genomic DNA Translation: EAW61301.1 CH471171 Genomic DNA Translation: EAW61302.1 CH471171 Genomic DNA Translation: EAW61303.1 BC086957 mRNA Translation: AAH86957.1 M67468 mRNA Translation: AAA52458.1 Different initiation. X69962 mRNA Translation: CAA49586.1 S65791 mRNA Translation: AAB28395.2 L19476 Genomic DNA Translation: AAA62452.2 L19477 Genomic DNA Translation: AAA62453.1 L19478 Genomic DNA Translation: AAA62454.1 L19479 Genomic DNA Translation: AAA62455.1 L19480 Genomic DNA Translation: AAA62456.1 L19481 Genomic DNA Translation: AAA62457.1 L19482 Genomic DNA Translation: AAA62458.1 L19483 Genomic DNA Translation: AAA62459.1 L19484 Genomic DNA Translation: AAA62460.1 L19485 Genomic DNA Translation: AAA62461.1 L19486 Genomic DNA Translation: AAA62462.1 L19487 Genomic DNA Translation: AAA62463.1 L19488 Genomic DNA Translation: AAA62464.1 L19489 Genomic DNA Translation: AAA62465.1 L19490 Genomic DNA Translation: AAA62466.1 Sequence problems. L19491 Genomic DNA Translation: AAA62467.1 Sequence problems. L19492 Genomic DNA Translation: AAA62468.1 L19493 Genomic DNA Translation: AAA62469.1 S76590 Genomic DNA Translation: AAD14228.1 |
CCDSi | CCDS14682.1 [Q06787-1] CCDS55518.1 [Q06787-10] CCDS55519.1 [Q06787-9] CCDS76039.1 [Q06787-8] |
PIRi | I68614 S45243, A40724 |
RefSeqi | NP_001172004.1, NM_001185075.1 [Q06787-10] NP_001172005.1, NM_001185076.1 [Q06787-9] NP_001172010.1, NM_001185081.1 [Q06787-11] NP_001172011.1, NM_001185082.1 [Q06787-8] NP_002015.1, NM_002024.5 [Q06787-1] |
Genome annotation databases
Ensembli | ENST00000218200; ENSP00000218200; ENSG00000102081 [Q06787-9] ENST00000370470; ENSP00000359501; ENSG00000102081 [Q06787-6] ENST00000370471; ENSP00000359502; ENSG00000102081 [Q06787-10] ENST00000370475; ENSP00000359506; ENSG00000102081 ENST00000440235; ENSP00000413764; ENSG00000102081 [Q06787-8] |
GeneIDi | 2332 |
KEGGi | hsa:2332 |
MANE-Selecti | ENST00000370475.9; ENSP00000359506.5; NM_002024.6; NP_002015.1 |
UCSCi | uc004fck.5, human [Q06787-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L29074 Genomic DNA Translation: AAB18828.1 L29074 Genomic DNA Translation: AAB18829.1 L29074 Genomic DNA Translation: AAB18830.1 L29074 Genomic DNA Translation: AAB18831.1 L29074 Genomic DNA Translation: AAB18832.1 L29074 Genomic DNA Translation: AAB18833.1 KJ534836 mRNA Translation: AHW56476.1 CH471171 Genomic DNA Translation: EAW61294.1 CH471171 Genomic DNA Translation: EAW61296.1 CH471171 Genomic DNA Translation: EAW61298.1 CH471171 Genomic DNA Translation: EAW61301.1 CH471171 Genomic DNA Translation: EAW61302.1 CH471171 Genomic DNA Translation: EAW61303.1 BC086957 mRNA Translation: AAH86957.1 M67468 mRNA Translation: AAA52458.1 Different initiation. X69962 mRNA Translation: CAA49586.1 S65791 mRNA Translation: AAB28395.2 L19476 Genomic DNA Translation: AAA62452.2 L19477 Genomic DNA Translation: AAA62453.1 L19478 Genomic DNA Translation: AAA62454.1 L19479 Genomic DNA Translation: AAA62455.1 L19480 Genomic DNA Translation: AAA62456.1 L19481 Genomic DNA Translation: AAA62457.1 L19482 Genomic DNA Translation: AAA62458.1 L19483 Genomic DNA Translation: AAA62459.1 L19484 Genomic DNA Translation: AAA62460.1 L19485 Genomic DNA Translation: AAA62461.1 L19486 Genomic DNA Translation: AAA62462.1 L19487 Genomic DNA Translation: AAA62463.1 L19488 Genomic DNA Translation: AAA62464.1 L19489 Genomic DNA Translation: AAA62465.1 L19490 Genomic DNA Translation: AAA62466.1 Sequence problems. L19491 Genomic DNA Translation: AAA62467.1 Sequence problems. L19492 Genomic DNA Translation: AAA62468.1 L19493 Genomic DNA Translation: AAA62469.1 S76590 Genomic DNA Translation: AAD14228.1 |
CCDSi | CCDS14682.1 [Q06787-1] CCDS55518.1 [Q06787-10] CCDS55519.1 [Q06787-9] CCDS76039.1 [Q06787-8] |
PIRi | I68614 S45243, A40724 |
RefSeqi | NP_001172004.1, NM_001185075.1 [Q06787-10] NP_001172005.1, NM_001185076.1 [Q06787-9] NP_001172010.1, NM_001185081.1 [Q06787-11] NP_001172011.1, NM_001185082.1 [Q06787-8] NP_002015.1, NM_002024.5 [Q06787-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2BKD | NMR | - | N | 1-134 | [»] | |
2FMR | NMR | - | A | 216-280 | [»] | |
2LA5 | NMR | - | B | 527-541 | [»] | |
2QND | X-ray | 1.90 | A/B | 216-425 | [»] | |
4OVA | X-ray | 3.00 | A/B/C/D | 1-209 | [»] | |
4QVZ | X-ray | 3.20 | A/B | 1-213 | [»] | |
4QW2 | X-ray | 2.99 | A/B | 1-213 | [»] | |
5DE5 | X-ray | 3.00 | B/D | 528-544 | [»] | |
5DE8 | X-ray | 3.10 | B/D | 528-544 | [»] | |
5DEA | X-ray | 2.80 | B/D | 528-544 | [»] | |
5UWJ | X-ray | 2.22 | D | 423-437 | [»] | |
5UWO | X-ray | 2.35 | D | 422-438 | [»] | |
SMRi | Q06787 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108619, 238 interactors |
DIPi | DIP-29509N |
IntActi | Q06787, 358 interactors |
MINTi | Q06787 |
STRINGi | 9606.ENSP00000359506 |
PTM databases
GlyGeni | Q06787, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q06787 |
MetOSitei | Q06787 |
PhosphoSitePlusi | Q06787 |
Genetic variation databases
BioMutai | FMR1 |
DMDMi | 544328 |
Proteomic databases
EPDi | Q06787 |
jPOSTi | Q06787 |
MassIVEi | Q06787 |
MaxQBi | Q06787 |
PaxDbi | Q06787 |
PeptideAtlasi | Q06787 |
PRIDEi | Q06787 |
ProteomicsDBi | 34152 58477 [Q06787-1] 58478 [Q06787-2] 58479 [Q06787-3] 58480 [Q06787-4] 58481 [Q06787-5] 58482 [Q06787-6] 58483 [Q06787-7] 58484 [Q06787-8] |
Protocols and materials databases
Antibodypediai | 3246, 738 antibodies from 45 providers |
DNASUi | 2332 |
Genome annotation databases
Ensembli | ENST00000218200; ENSP00000218200; ENSG00000102081 [Q06787-9] ENST00000370470; ENSP00000359501; ENSG00000102081 [Q06787-6] ENST00000370471; ENSP00000359502; ENSG00000102081 [Q06787-10] ENST00000370475; ENSP00000359506; ENSG00000102081 ENST00000440235; ENSP00000413764; ENSG00000102081 [Q06787-8] |
GeneIDi | 2332 |
KEGGi | hsa:2332 |
MANE-Selecti | ENST00000370475.9; ENSP00000359506.5; NM_002024.6; NP_002015.1 |
UCSCi | uc004fck.5, human [Q06787-1] |
Organism-specific databases
CTDi | 2332 |
DisGeNETi | 2332 |
GeneCardsi | FMR1 |
GeneReviewsi | FMR1 |
HGNCi | HGNC:3775, FMR1 |
HPAi | ENSG00000102081, Low tissue specificity |
MalaCardsi | FMR1 |
MIMi | 300623, phenotype 300624, phenotype 309550, gene 311360, phenotype 616034, phenotype |
neXtProti | NX_Q06787 |
OpenTargetsi | ENSG00000102081 |
Orphaneti | 908, Fragile X syndrome 93256, Fragile X-associated tremor/ataxia syndrome 619, NON RARE IN EUROPE: Primary ovarian failure 449291, Symptomatic form of fragile X syndrome in female carriers 261483, Xq27.3q28 duplication syndrome |
PharmGKBi | PA28191 |
VEuPathDBi | HostDB:ENSG00000102081 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QPKJ, Eukaryota |
GeneTreei | ENSGT00950000183189 |
HOGENOMi | CLU_020699_4_0_1 |
InParanoidi | Q06787 |
OMAi | IGNDDHS |
OrthoDBi | 374073at2759 |
PhylomeDBi | Q06787 |
TreeFami | TF105427 |
Enzyme and pathway databases
PathwayCommonsi | Q06787 |
SignaLinki | Q06787 |
SIGNORi | Q06787 |
Miscellaneous databases
BioGRID-ORCSi | 2332, 11 hits in 676 CRISPR screens |
ChiTaRSi | FMR1, human |
EvolutionaryTracei | Q06787 |
GeneWikii | FMR1 |
GenomeRNAii | 2332 |
Pharosi | Q06787, Tbio |
PROi | PR:Q06787 |
RNActi | Q06787, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000102081, Expressed in female gonad and 249 other tissues |
ExpressionAtlasi | Q06787, baseline and differential |
Genevisiblei | Q06787, HS |
Family and domain databases
DisProti | DP00134 |
Gene3Di | 3.30.1370.10, 3 hits |
InterProi | View protein in InterPro IPR008395, Agenet-like_dom IPR040148, FMR1 IPR040472, FMRP_KH0 IPR032196, FXMR_C2 IPR022034, FXMRP1_C_core IPR004087, KH_dom IPR004088, KH_dom_type_1 IPR036612, KH_dom_type_1_sf IPR041560, Tudor_FRX1 |
PANTHERi | PTHR10603, PTHR10603, 1 hit |
Pfami | View protein in Pfam PF05641, Agenet, 1 hit PF16098, FXMR_C2, 1 hit PF12235, FXMRP1_C_core, 1 hit PF00013, KH_1, 2 hits PF17904, KH_9, 1 hit PF18336, Tudor_FRX1, 1 hit |
SMARTi | View protein in SMART SM00322, KH, 2 hits |
SUPFAMi | SSF54791, SSF54791, 2 hits |
PROSITEi | View protein in PROSITE PS51641, AGENET_LIKE, 2 hits PS50084, KH_TYPE_1, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | FMR1_HUMAN | |
Accessioni | Q06787Primary (citable) accession number: Q06787 Secondary accession number(s): A6NNH4 Q99054 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | June 1, 1994 | |
Last modified: | February 23, 2022 | |
This is version 224 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families