Fragile X Mental Retardation 1 (FMR1)

FMRP; FRAXA

SPN	O658
HGNC	3775
MGI	95564
PubMed	20221430
RGD	2623
UniProt	Q06787
Wiki	FMR1

FMR1 is normally made in many tissues, especially in the brain and testes. It may play a role in the development of synaptic connections between nerve cells in the brain, where cell-to-cell communication occurs. The connections between nerve cells can change and adapt over time in response to experience (a characteristic called synaptic plasticity). FMRP may help regulate synaptic plasticity, which is important for learning and memory.

One region of the FMR1 gene contains a 3 base Variable Number Tandem Repeat (VNTR, or more specifically, a trinucleotide repeat). The sequence CGG is repeated a number of times. In most healthy individuals, the number of CGG repeats ranges from fewer than 10 to about 40, with the median at about 29 repeats.

Reference

"Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome."
Cell 65:905-914(1991) [PubMed] [Europe PMC] [Abstract]

"Alternative splicing in the fragile X gene FMR1."
Hum. Mol. Genet. 2:399-404(1993) [PubMed] [Europe PMC] [Abstract]

Erratum
Hum. Mol. Genet. 2:1348-1348(1993) [PubMed] [Europe PMC] [Abstract]

"Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism."
Nat. Commun. 5:3650-3650(2014) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Fine structure of the human FMR1 gene."
Hum. Mol. Genet. 2:1147-1153(1993) [PubMed] [Europe PMC] [Abstract]

Erratum
Hum. Mol. Genet. 3:684-685(1994) [PubMed] [Europe PMC] [Abstract]

"Two new cases of FMR1 deletion associated with mental impairment."
Am. J. Hum. Genet. 56:67-74(1995) [PubMed] [Europe PMC] [Abstract]

"The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein."
Cell 74:291-298(1993) [PubMed] [Europe PMC] [Abstract]

"Characterization and localization of the FMR-1 gene product associated with fragile X syndrome."
Nature 363:722-724(1993) [PubMed] [Europe PMC] [Abstract]

"The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation."
Nat. Genet. 4:335-340(1993) [PubMed] [Europe PMC] [Abstract]

"FMR1 protein: conserved RNP family domains and selective RNA binding."
Science 262:563-566(1993) [PubMed] [Europe PMC] [Abstract]

"FXR1, an autosomal homolog of the fragile X mental retardation gene."
EMBO J. 14:2401-2408(1995) [PubMed] [Europe PMC] [Abstract]

"Studies of FRAXA and FRAXE in women with premature ovarian failure."
J. Med. Genet. 35:637-640(1998) [PubMed] [Europe PMC] [Abstract]

"A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein."
Hum. Mol. Genet. 8:2557-2566(1999) [PubMed] [Europe PMC] [Abstract]

"Casein kinase II phosphorylates the fragile X mental retardation protein and modulates its biological properties."
Mol. Cell. Biol. 22:8438-8447(2002) [PubMed] [Europe PMC] [Abstract]

"82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization."
Hum. Mol. Genet. 12:1689-1698(2003) [PubMed] [Europe PMC] [Abstract]

"Visualization of RNA-protein interactions in living cells: FMRP and IMP1 interact on mRNAs."
EMBO J. 23:3346-3355(2004) [PubMed] [Europe PMC] [Abstract]

"The C-terminus of fragile X mental retardation protein interacts with the multi-domain Ran-binding protein in the microtubule-organising centre."
J. Mol. Biol. 343:43-53(2004) [PubMed] [Europe PMC] [Abstract]

"Alternative splicing modulates protein arginine methyltransferase-dependent methylation of fragile X syndrome mental retardation protein."
Biochemistry 45:10385-10393(2006) [PubMed] [Europe PMC] [Abstract]

"The nuclear microspherule protein 58 is a novel RNA-binding protein that interacts with fragile X mental retardation protein in polyribosomal mRNPs from neurons."
Hum. Mol. Genet. 15:1525-1538(2006) [PubMed] [Europe PMC] [Abstract]

"TDRD3, a novel Tudor domain-containing protein, localizes to cytoplasmic stress granules."
Hum. Mol. Genet. 17:3055-3074(2008) [PubMed] [Europe PMC] [Abstract]

"In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein."
J. Biol. Chem. 283:5598-5610(2008) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"The solution structure of the first KH domain of FMR1, the protein responsible for the fragile X syndrome."
Nat. Struct. Biol. 4:712-716(1997) [PubMed] [Europe PMC] [Abstract]

"The structure of the N-terminal domain of the fragile X mental retardation protein: a platform for protein-protein interaction."
Structure 14:21-31(2006) [PubMed] [Europe PMC] [Abstract]

"Fragile X mental retardation syndrome: structure of the KH1-KH2 domains of fragile X mental retardation protein."
Structure 15:1090-1098(2007) [PubMed] [Europe PMC] [Abstract]

"A point mutation in the FMR-1 gene associated with fragile X mental retardation."
Nat. Genet. 3:31-35(1993) [PubMed] [Europe PMC] [Abstract]

"Characterization of FMR1 proteins isolated from different tissues."
Hum. Mol. Genet. 4:895-901(1995) [PubMed] [Europe PMC] [Abstract]

"Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome."
Hum. Mutat. 10:393-399(1997) [PubMed] [Europe PMC] [Abstract]

"FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association."
Mol. Cell 1:109-118(1997) [PubMed] [Europe PMC] [Abstract]

"Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X."
Neurology 57:127-130(2001) [PubMed] [Europe PMC] [Abstract]

"Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes."
Genes Dev. 19:903-918(2005) [PubMed] [Europe PMC] [Abstract]

"Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP."
Hum. Mol. Genet. 17:3236-3246(2008) [PubMed] [Europe PMC] [Abstract]

"Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males."
Am. J. Med. Genet. A 152:2512-2520(2010) [PubMed] [Europe PMC] [Abstract]