Property Summary

NCBI Gene PubMed Count 499
Grant Count 960
R01 Count 521
Funding $213,905,903.33
PubMed Score 2331.54
PubTator Score 1941.32

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q06787 A6NNH4 D3DWT0 D3DWT1 D3DWT2 G8JL90 Q16578 Q5PQZ6 Q99054
Symbols POF
FMRP
POF1
FRAXA

Gene

PDB

2BKD   2FMR   2LA5   2QND   4OVA   4QVZ   4QW2   5DE5   5DE8   5DEA  

Gene RIF (473)

PMID Text
26963595 Identified a tripartite correlation between schizophrenia, miR-9-5p, and FMR1/FXR1: functional overlaps and differences between FMR1 and its homologues could potentially shed light on both the function of miR-9-5p and the etiology of schizophrenia.
26855684 transcriptional silencing in fragile X syndrome via DNA methylation and hydroxymethylation
26612855 An accumulation of 8 SNPs in the fragile gene family (FMR1, FXR1 and FXR2)were found associated with autistic traits in a sample of male patients.
26600526 PCR-P analysis of parents of female patients may discard or emphasize the suspicion of Fragile X Syndrome . If parents are normal for the mutation in the FMR1 gene, the patient can be concluded to be normal.
26558778 Fmr1 transgenic mice exhibited alterations in protein synthesis and dendritic spine morphology in the hippocampus.
26554012 These data suggest that the disrupted interaction of HuR impairs activity-dependent translation of FMRP, which may hinder synaptic plasticity in a clinically significant fashion.
26409477 The correlation of ovarian reserve and serum anti-Mullerian hormone levels and FMR1 CGG repeat number in women with <55 CGG repeats
26393806 found no evidence for a pathological increase in GSK3beta protein levels upon cellular loss of fragile x mental retardation protein
26393489 Silencing of the fragile X mental retardation gene results in Autism spectrum disorder.
26374839 Crystal structure reveals specific recognition of a G-quadruplex RNA by a beta-turn in the RGG motif of FMRP.
More...

AA Sequence

MEELVVEVRGSNGAFYKAFVKDVHEDSITVAFENNWQPDRQIPFHDVRFPPPVGYNKDINESDEVEVYSR      1 - 70
ANEKEPCCWWLAKVRMIKGEFYVIEYAACDATYNEIVTIERLRSVNPNKPATKDTFHKIKLDVPEDLRQM     71 - 140
CAKEAAHKDFKKAVGAFSVTYDPENYQLVILSINEVTSKRAHMLIDMHFRSLRTKLSLIMRNEEASKQLE    141 - 210
SSRQLASRFHEQFIVREDLMGLAIGTHGANIQQARKVPGVTAIDLDEDTCTFHIYGEDQDAVKKARSFLE    211 - 280
FAEDVIQVPRNLVGKVIGKNGKLIQEIVDKSGVVRVRIEAENEKNVPQEEEIMPPNSLPSNNSRVGPNAP    281 - 350
EEKKHLDIKENSTHFSQPNSTKVQRVLVASSVVAGESQKPELKAWQGMVPFVFVGTKDSIANATVLLDYH    351 - 420
LNYLKEVDQLRLERLQIDEQLRQIGASSRPPPNRTDKEKSYVTDDGQGMGRGSRPYRNRGHGRRGPGYTS    421 - 490
GTNSEASNASETESDHRDELSDWSLAPTEEERESFLRRGDGRRRGGGGRGQGGRGRGGGFKGNDDHSRTD    491 - 560
NRPRNPREAKGRTTDGSLQIRVDCNNERSVHTKTLQNTSSEGSRLRTGKDRNQKKEKPDSVDGQQPLVNG    561 - 630
VP                                                                        631 - 632
//

Text Mined References (521)

PMID Year Title
26963595 2016 Analyzing the Role of MicroRNAs in Schizophrenia in the Context of Common Genetic Risk Variants.
26855684 2016 Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome.
26612855 2015 Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes.
26600526 2015 Molecular analysis of patients suspected of Fragile X Syndrome.
26558778 2015 Convergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-/y Mice.
26554012 2015 A 3' untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR.
26409477 2015 Evidence of an age-related correlation of ovarian reserve and FMR1 repeat number among women with "normal" CGG repeat status.
26393806 2015 Molecular mechanisms regulating impaired neurogenesis of fragile X syndrome human embryonic stem cells.
26393489 2015 Shared functional defect in IP?R-mediated calcium signaling in diverse monogenic autism syndromes.
26374839 2015 Crystal structure reveals specific recognition of a G-quadruplex RNA by a ?-turn in the RGG motif of FMRP.
More...