Details for: FMR1

Gene ID: 2332

Symbol: FMR1

Ensembl ID: ENSG00000102081

Description: fragile X messenger ribonucleoprotein 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 196.7273
    Cell Significance Index: -30.6000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 121.3121
    Cell Significance Index: -30.7700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 71.7187
    Cell Significance Index: -33.8600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 69.8572
    Cell Significance Index: -28.3800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 62.0547
    Cell Significance Index: -31.9200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 29.7672
    Cell Significance Index: -28.4200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 25.7187
    Cell Significance Index: -31.7100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.7177
    Cell Significance Index: -31.3900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.5325
    Cell Significance Index: -32.3500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.1068
    Cell Significance Index: -31.9900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.1729
    Cell Significance Index: -13.5100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.7777
    Cell Significance Index: 74.1700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.2325
    Cell Significance Index: 30.4600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 2.1230
    Cell Significance Index: 345.2900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.2835
    Cell Significance Index: 139.6100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.2056
    Cell Significance Index: 72.3800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1055
    Cell Significance Index: 221.7700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8407
    Cell Significance Index: 459.1400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8021
    Cell Significance Index: 159.1800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.7269
    Cell Significance Index: 40.7900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6708
    Cell Significance Index: 82.4900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5830
    Cell Significance Index: 80.0600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.5545
    Cell Significance Index: 28.8900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5352
    Cell Significance Index: 191.9700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5112
    Cell Significance Index: 92.1600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4377
    Cell Significance Index: 12.6100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4357
    Cell Significance Index: 9.4400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3888
    Cell Significance Index: 351.1000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3721
    Cell Significance Index: 25.7300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3704
    Cell Significance Index: 16.7900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3625
    Cell Significance Index: 18.8300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3347
    Cell Significance Index: 20.5700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.3208
    Cell Significance Index: 8.0200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3040
    Cell Significance Index: 19.6100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2991
    Cell Significance Index: 132.2400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.2835
    Cell Significance Index: 6.5500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2719
    Cell Significance Index: 7.6000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.2156
    Cell Significance Index: 14.5000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1806
    Cell Significance Index: 124.9000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1768
    Cell Significance Index: 17.4900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1503
    Cell Significance Index: 7.0100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1452
    Cell Significance Index: 9.1500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1242
    Cell Significance Index: 3.3800
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.1175
    Cell Significance Index: 0.7300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1078
    Cell Significance Index: 20.5200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0797
    Cell Significance Index: 150.0100
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.0753
    Cell Significance Index: 0.8000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0496
    Cell Significance Index: 0.8500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0387
    Cell Significance Index: 24.5900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0156
    Cell Significance Index: 1.7900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0151
    Cell Significance Index: 11.0700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0108
    Cell Significance Index: 0.3100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0079
    Cell Significance Index: 14.6100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0054
    Cell Significance Index: 8.2500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0052
    Cell Significance Index: 2.3700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0059
    Cell Significance Index: -0.7600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0078
    Cell Significance Index: -10.6700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0184
    Cell Significance Index: -2.6800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0257
    Cell Significance Index: -1.9700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0284
    Cell Significance Index: -3.3500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0302
    Cell Significance Index: -22.8600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0312
    Cell Significance Index: -23.0800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0370
    Cell Significance Index: -1.7400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0377
    Cell Significance Index: -0.6300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0532
    Cell Significance Index: -30.0300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0579
    Cell Significance Index: -36.1300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0750
    Cell Significance Index: -7.6600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0789
    Cell Significance Index: -13.4800
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.1092
    Cell Significance Index: -1.5600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1145
    Cell Significance Index: -32.9400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1295
    Cell Significance Index: -3.1100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1417
    Cell Significance Index: -10.0200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1436
    Cell Significance Index: -16.7400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1465
    Cell Significance Index: -6.4800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1535
    Cell Significance Index: -19.8300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1597
    Cell Significance Index: -5.6100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1659
    Cell Significance Index: -34.9500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1754
    Cell Significance Index: -9.2100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1959
    Cell Significance Index: -7.4200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2402
    Cell Significance Index: -25.0100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2478
    Cell Significance Index: -18.4700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2678
    Cell Significance Index: -21.2100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2723
    Cell Significance Index: -7.7700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.3127
    Cell Significance Index: -2.4100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3310
    Cell Significance Index: -7.0500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3428
    Cell Significance Index: -6.6900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3971
    Cell Significance Index: -7.3400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.4238
    Cell Significance Index: -11.1500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4448
    Cell Significance Index: -9.4400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4634
    Cell Significance Index: -12.4000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4719
    Cell Significance Index: -16.4000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.4844
    Cell Significance Index: -7.1500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.5039
    Cell Significance Index: -4.6400
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.5259
    Cell Significance Index: -4.4700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5425
    Cell Significance Index: -33.2600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5672
    Cell Significance Index: -14.5800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.5775
    Cell Significance Index: -12.3500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.6113
    Cell Significance Index: -19.4700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.6293
    Cell Significance Index: -13.7800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.6301
    Cell Significance Index: -20.6300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** FMR1 is a CpG island-containing gene, which means that its promoter region contains a cluster of cytosine and guanine bases that are methylated to silence gene expression. The methylation of the FMR1 gene promoter is a key mechanism that leads to the silencing of the gene in individuals with Fragile X Syndrome. The FMR1 gene is also characterized by its unique expansion of a CGG repeat sequence, which is a hallmark of the disease. The length of the CGG repeat expansion is inversely correlated with the severity of the disease. Individuals with a shorter expansion have milder symptoms, while those with a longer expansion have more severe symptoms. **Pathways and Functions** FMRP is a crucial regulator of mRNA translation and synaptic plasticity. It binds to specific mRNA sequences and regulates their translation into protein. FMRP also plays a role in the regulation of synaptic plasticity, which is the ability of synapses to adapt and change in response to experience. FMRP is involved in the regulation of long-term synaptic depression (LTD) and long-term potentiation (LTP), which are two types of synaptic plasticity. FMRP also regulates the activity of various signaling pathways, including the glutamate receptor signaling pathway, which is involved in neuronal excitability. In addition to its role in synaptic plasticity, FMRP is also involved in the regulation of various cellular processes, including: * RNA processing: FMRP regulates the processing of certain mRNAs, including those involved in synaptic plasticity. * Translation initiation: FMRP regulates the initiation of translation of specific mRNAs. * Protein binding: FMRP binds to various proteins, including those involved in synaptic plasticity. * Microtubule binding: FMRP binds to microtubules, which are involved in the regulation of synaptic plasticity. **Clinical Significance** Fragile X Syndrome is a genetic disorder caused by the expansion of the CGG repeat sequence in the FMR1 gene. The disease is characterized by intellectual disability, behavioral problems, and various physical abnormalities. The severity of the disease is inversely correlated with the length of the CGG repeat expansion. Individuals with a shorter expansion have milder symptoms, while those with a longer expansion have more severe symptoms. Fragile X Syndrome is a significant cause of intellectual disability, affecting approximately 1 in 4000 individuals. The disease is also associated with various behavioral problems, including autism spectrum disorder and attention deficit hyperactivity disorder (ADHD). The study of FMRP and its role in synaptic plasticity has led to the development of new therapeutic strategies for the treatment of Fragile X Syndrome. These strategies include the use of RNA-based therapies, such as RNA interference (RNAi) and antisense oligonucleotides, which aim to reduce the expression of the FMR1 gene or restore the function of FMRP. In conclusion, FMR1 is a crucial gene involved in the regulation of various cellular processes, including RNA processing, translation, and synaptic plasticity. The study of FMRP and its role in synaptic plasticity has led to a better understanding of the molecular mechanisms underlying Fragile X Syndrome and has paved the way for the development of new therapeutic strategies for the treatment of this disease.

Genular Protein ID: 3514054464

Symbol: FMR1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q06787 A6NNH4 D3DWT0 D3DWT1 D3DWT2 G8JL90 Q16578 Q5PQZ6 Q99054

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 4 CTD 1 ChiTaRS 1 ComplexPortal 4 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 36 Ensembl 7 EvolutionaryTrace 1 ExpressionAtlas 1 GO 97 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 13 KEGG 1 MANE-Select 1 MIM 8 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 12 PDBsum 12 PIR 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 6 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 9 Pumba 1 RNAct 1 RefSeq 5 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1710175

Title: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

PubMed ID: 1710175

DOI: 10.1016/0092-8674(91)90397-h

PubMed ID: 8504300

Title: Alternative splicing in the fragile X gene FMR1.

PubMed ID: 8504300

DOI: 10.1093/hmg/2.4.399

PubMed ID: 8401531

Title:

PubMed ID: 8401531

DOI: 10.1093/hmg/2.8.1348

PubMed ID: 24722188

Title: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

PubMed ID: 24722188

DOI: 10.1038/ncomms4650

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8401496

Title: Fine structure of the human FMR1 gene.

PubMed ID: 8401496

DOI: 10.1093/hmg/2.8.1147

PubMed ID: 8069329

Title:

PubMed ID: 8069329

PubMed ID: 7825604

Title: Two new cases of FMR1 deletion associated with mental impairment.

PubMed ID: 7825604

DOI: 10.1002/ajmg.1320560115

PubMed ID: 7688265

Title: The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein.

PubMed ID: 7688265

DOI: 10.1016/0092-8674(93)90420-u

PubMed ID: 8515814

Title: Characterization and localization of the FMR-1 gene product associated with fragile X syndrome.

PubMed ID: 8515814

DOI: 10.1038/363722a0

PubMed ID: 8401578

Title: The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.

PubMed ID: 8401578

DOI: 10.1038/ng0893-335

PubMed ID: 7692601

Title: FMR1 protein: conserved RNP family domains and selective RNA binding.

PubMed ID: 7692601

DOI: 10.1126/science.7692601

PubMed ID: 7781595

Title: FXR1, an autosomal homolog of the fragile X mental retardation gene.

PubMed ID: 7781595

DOI: 10.1002/j.1460-2075.1995.tb07237.x

PubMed ID: 7489725

Title: The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2.

PubMed ID: 7489725

DOI: 10.1002/j.1460-2075.1995.tb00220.x

PubMed ID: 8789445

Title: Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms.

PubMed ID: 8789445

DOI: 10.1093/hmg/5.1.95

PubMed ID: 8668200

Title: Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them.

PubMed ID: 8668200

DOI: 10.1128/mcb.16.7.3825

PubMed ID: 9259278

Title: Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis.

PubMed ID: 9259278

DOI: 10.1093/hmg/6.8.1315

PubMed ID: 9659908

Title: FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association.

PubMed ID: 9659908

DOI: 10.1016/s1097-2765(00)80012-x

PubMed ID: 9719368

Title: Studies of FRAXA and FRAXE in women with premature ovarian failure.

PubMed ID: 9719368

DOI: 10.1136/jmg.35.8.637

PubMed ID: 10196376

Title: Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations.

PubMed ID: 10196376

DOI: 10.1093/hmg/8.5.863

PubMed ID: 10556305

Title: A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein.

PubMed ID: 10556305

DOI: 10.1093/hmg/8.13.2557

PubMed ID: 11719188

Title: Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome.

PubMed ID: 11719188

DOI: 10.1016/s0092-8674(01)00568-2

PubMed ID: 11719189

Title: Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function.

PubMed ID: 11719189

DOI: 10.1016/s0092-8674(01)00566-9

PubMed ID: 11532944

Title: The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif.

PubMed ID: 11532944

DOI: 10.1093/emboj/20.17.4803

PubMed ID: 11157796

Title: Evidence that fragile X mental retardation protein is a negative regulator of translation.

PubMed ID: 11157796

DOI: 10.1093/hmg/10.4.329

PubMed ID: 12417522

Title: Trapping of messenger RNA by Fragile X Mental Retardation protein into cytoplasmic granules induces translation repression.

PubMed ID: 12417522

DOI: 10.1093/hmg/11.24.3007

PubMed ID: 12417734

Title: Transport of fragile X mental retardation protein via granules in neurites of PC12 cells.

PubMed ID: 12417734

DOI: 10.1128/mcb.22.23.8332-8341.2002

PubMed ID: 12446764

Title: Casein kinase II phosphorylates the fragile X mental retardation protein and modulates its biological properties.

PubMed ID: 12446764

DOI: 10.1128/mcb.22.24.8438-8447.2002

PubMed ID: 12950170

Title: The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.

PubMed ID: 12950170

DOI: 10.1021/bi034909g

PubMed ID: 12837692

Title: 82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization.

PubMed ID: 12837692

DOI: 10.1093/hmg/ddg181

PubMed ID: 14532325

Title: Fragile X Mental Retardation protein determinants required for its association with polyribosomal mRNPs.

PubMed ID: 14532325

DOI: 10.1093/hmg/ddg335

PubMed ID: 12594214

Title: The fragile X mental retardation protein FMRP binds elongation factor 1A mRNA and negatively regulates its translation in vivo.

PubMed ID: 12594214

DOI: 10.1074/jbc.m211117200

PubMed ID: 14508492

Title: A micrococcal nuclease homologue in RNAi effector complexes.

PubMed ID: 14508492

DOI: 10.1038/nature01956

PubMed ID: 12575950

Title: RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice.

PubMed ID: 12575950

DOI: 10.1016/s0896-6273(03)00034-5

PubMed ID: 12927206

Title: The fragile X mental retardation protein binds and regulates a novel class of mRNAs containing U rich target sequences.

PubMed ID: 12927206

DOI: 10.1016/s0306-4522(03)00406-8

PubMed ID: 15282548

Title: Visualization of RNA-protein interactions in living cells: FMRP and IMP1 interact on mRNAs.

PubMed ID: 15282548

DOI: 10.1038/sj.emboj.7600341

PubMed ID: 15381419

Title: The C-terminus of fragile X mental retardation protein interacts with the multi-domain Ran-binding protein in the microtubule-organising centre.

PubMed ID: 15381419

DOI: 10.1016/j.jmb.2004.08.024

PubMed ID: 14703574

Title: Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway.

PubMed ID: 14703574

DOI: 10.1038/nn1174

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21771594

Title: Evidence for the association of the human regulatory protein Ki-1/57 with the translational machinery.

PubMed ID: 21771594

DOI: 10.1016/j.febslet.2011.07.010

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 15805463

Title: Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes.

PubMed ID: 15805463

DOI: 10.1101/gad.1276805

PubMed ID: 16922515

Title: Alternative splicing modulates protein arginine methyltransferase-dependent methylation of fragile X syndrome mental retardation protein.

PubMed ID: 16922515

DOI: 10.1021/bi0525019

PubMed ID: 16571602

Title: The nuclear microspherule protein 58 is a novel RNA-binding protein that interacts with fragile X mental retardation protein in polyribosomal mRNPs from neurons.

PubMed ID: 16571602

DOI: 10.1093/hmg/ddl074

PubMed ID: 17057366

Title: Dicer-derived microRNAs are utilized by the fragile X mental retardation protein for assembly on target RNAs.

PubMed ID: 17057366

DOI: 10.1155/jbb/2006/64347

PubMed ID: 16636078

Title: Methylation regulates the intracellular protein-protein and protein-RNA interactions of FMRP.

PubMed ID: 16636078

DOI: 10.1242/jcs.02882

PubMed ID: 16631377

Title: Local functions for FMRP in axon growth cone motility and activity-dependent regulation of filopodia and spine synapses.

PubMed ID: 16631377

DOI: 10.1016/j.mcn.2006.02.001

PubMed ID: 17417632

Title: A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability.

PubMed ID: 17417632

DOI: 10.1038/nn1893

PubMed ID: 18632687

Title: TDRD3, a novel Tudor domain-containing protein, localizes to cytoplasmic stress granules.

PubMed ID: 18632687

DOI: 10.1093/hmg/ddn203

PubMed ID: 18664458

Title: Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP.

PubMed ID: 18664458

DOI: 10.1093/hmg/ddn219

PubMed ID: 18093976

Title: In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein.

PubMed ID: 18093976

DOI: 10.1074/jbc.m707304200

PubMed ID: 18653529

Title: The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer.

PubMed ID: 18653529

DOI: 10.1093/nar/gkn472

PubMed ID: 18579868

Title: Fragile X mental retardation protein interactions with the microtubule associated protein 1B RNA.

PubMed ID: 18579868

DOI: 10.1261/rna.1100708

PubMed ID: 19097999

Title: Translational regulation of the human achaete-scute homologue-1 by fragile X mental retardation protein.

PubMed ID: 19097999

DOI: 10.1074/jbc.m807354200

PubMed ID: 18936162

Title: Fragile X mental retardation protein FMRP binds mRNAs in the nucleus.

PubMed ID: 18936162

DOI: 10.1128/mcb.01377-08

PubMed ID: 19166269

Title: A novel function for fragile X mental retardation protein in translational activation.

PubMed ID: 19166269

DOI: 10.1371/journal.pbio.1000016

PubMed ID: 20512134

Title: Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack.

PubMed ID: 20512134

DOI: 10.1038/nn.2563

PubMed ID: 23235829

Title: FMRP targets distinct mRNA sequence elements to regulate protein expression.

PubMed ID: 23235829

DOI: 10.1038/nature11737

PubMed ID: 23891804

Title: FMRP and myelin protein expression in oligodendrocytes.

PubMed ID: 23891804

DOI: 10.1016/j.mcn.2013.07.009

PubMed ID: 24204304

Title: Nuclear fragile X mental retardation protein is localized to Cajal bodies.

PubMed ID: 24204304

DOI: 10.1371/journal.pgen.1003890

PubMed ID: 24813610

Title: A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response.

PubMed ID: 24813610

DOI: 10.1016/j.cell.2014.03.040

PubMed ID: 25464849

Title: MOV10 and FMRP regulate AGO2 association with microRNA recognition elements.

PubMed ID: 25464849

DOI: 10.1016/j.celrep.2014.10.054

PubMed ID: 24514761

Title: Fragile X mental retardation protein stimulates ribonucleoprotein assembly of influenza A virus.

PubMed ID: 24514761

DOI: 10.1038/ncomms4259

PubMed ID: 24658146

Title: Subcellular fractionation and localization studies reveal a direct interaction of the fragile X mental retardation protein (FMRP) with nucleolin.

PubMed ID: 24658146

DOI: 10.1371/journal.pone.0091465

PubMed ID: 25692235

Title: FMRP interacts with G-quadruplex structures in the 3'-UTR of its dendritic target Shank1 mRNA.

PubMed ID: 25692235

DOI: 10.1080/15476286.2014.996464

PubMed ID: 27509095

Title: New World and Old World Alphaviruses Have Evolved to Exploit Different Components of Stress Granules, FXR and G3BP Proteins, for Assembly of Viral Replication Complexes.

PubMed ID: 27509095

DOI: 10.1371/journal.ppat.1005810

PubMed ID: 31753916

Title: The RNA-binding protein FMRP facilitates the nuclear export of N6-methyladenosine-containing mRNAs.

PubMed ID: 31753916

DOI: 10.1074/jbc.ac119.010078

PubMed ID: 30765518

Title: Phosphoregulated FMRP phase separation models activity-dependent translation through bidirectional control of mRNA granule formation.

PubMed ID: 30765518

DOI: 10.1073/pnas.1814385116

PubMed ID: 31439799

Title: Phospho-dependent phase separation of FMRP and CAPRIN1 recapitulates regulation of translation and deadenylation.

PubMed ID: 31439799

DOI: 10.1126/science.aax4240

PubMed ID: 9302998

Title: The solution structure of the first KH domain of FMR1, the protein responsible for the fragile X syndrome.

PubMed ID: 9302998

DOI: 10.1038/nsb0997-712

PubMed ID: 16407062

Title: The structure of the N-terminal domain of the fragile X mental retardation protein: a platform for protein-protein interaction.

PubMed ID: 16407062

DOI: 10.1016/j.str.2005.09.018

PubMed ID: 17850748

Title: Fragile X mental retardation syndrome: structure of the KH1-KH2 domains of fragile X mental retardation protein.

PubMed ID: 17850748

DOI: 10.1016/j.str.2007.06.022

PubMed ID: 8490650

Title: A point mutation in the FMR-1 gene associated with fragile X mental retardation.

PubMed ID: 8490650

DOI: 10.1038/ng0193-31

PubMed ID: 8156595

Title: Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome.

PubMed ID: 8156595

DOI: 10.1016/0092-8674(94)90232-1

PubMed ID: 7633450

Title: Characterization of FMR1 proteins isolated from different tissues.

PubMed ID: 7633450

DOI: 10.1093/hmg/4.5.895

PubMed ID: 9375856

Title: Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome.

PubMed ID: 9375856

DOI: 10.1002/(sici)1098-1004(1997)10:5<393::aid-humu10>3.0.co;2-v

PubMed ID: 11445641

Title: Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

PubMed ID: 11445641

DOI: 10.1212/wnl.57.1.127

PubMed ID: 15380484

Title: Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells.

PubMed ID: 15380484

DOI: 10.1016/j.expneurol.2004.05.039

PubMed ID: 20799337

Title: Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.

PubMed ID: 20799337

DOI: 10.1002/ajmg.a.33626

PubMed ID: 24448548

Title: Fragile X syndrome due to a missense mutation.

PubMed ID: 24448548

DOI: 10.1038/ejhg.2013.311

PubMed ID: 25561520

Title: Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures.

PubMed ID: 25561520

DOI: 10.1073/pnas.1423094112

Sequence Information:

  • Length: 632
  • Mass: 71174
  • Checksum: F853D6C82E3489B9
  • Sequence:
    • MEELVVEVRG SNGAFYKAFV KDVHEDSITV AFENNWQPDR QIPFHDVRFP PPVGYNKDIN 
ESDEVEVYSR ANEKEPCCWW LAKVRMIKGE FYVIEYAACD ATYNEIVTIE RLRSVNPNKP 
ATKDTFHKIK LDVPEDLRQM CAKEAAHKDF KKAVGAFSVT YDPENYQLVI LSINEVTSKR 
AHMLIDMHFR SLRTKLSLIM RNEEASKQLE SSRQLASRFH EQFIVREDLM GLAIGTHGAN 
IQQARKVPGV TAIDLDEDTC TFHIYGEDQD AVKKARSFLE FAEDVIQVPR NLVGKVIGKN 
GKLIQEIVDK SGVVRVRIEA ENEKNVPQEE EIMPPNSLPS NNSRVGPNAP EEKKHLDIKE 
NSTHFSQPNS TKVQRVLVAS SVVAGESQKP ELKAWQGMVP FVFVGTKDSI ANATVLLDYH 
LNYLKEVDQL RLERLQIDEQ LRQIGASSRP PPNRTDKEKS YVTDDGQGMG RGSRPYRNRG 
HGRRGPGYTS GTNSEASNAS ETESDHRDEL SDWSLAPTEE ERESFLRRGD GRRRGGGGRG 
QGGRGRGGGF KGNDDHSRTD NRPRNPREAK GRTTDGSLQI RVDCNNERSV HTKTLQNTSS 
EGSRLRTGKD RNQKKEKPDS VDGQQPLVNG VP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.