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Aliases for FMR1 Gene

Aliases for FMR1 Gene

  • Fragile X Mental Retardation 1 2 3
  • FRAXA 3 6
  • POF1 3 6
  • FMRP 3 4
  • Fragile X Mental Retardation Protein 1 3
  • Premature Ovarian Failure 1 2
  • Protein FMR-1 4
  • POF 3

External Ids for FMR1 Gene

Previous Symbols for FMR1 Gene

  • POF1
  • POF

Summaries for FMR1 Gene

Entrez Gene Summary for FMR1 Gene

  • 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]

GeneCards Summary for FMR1 Gene

FMR1 (Fragile X Mental Retardation 1) is a Protein Coding gene. Diseases associated with FMR1 include fragile x-associated primary ovarian insufficiency and fmr1-related disorders. Among its related pathways are Translational Control and Neuroscience. GO annotations related to this gene include RNA binding and mRNA binding. An important paralog of this gene is FXR1.

UniProtKB/Swiss-Prot for FMR1 Gene

  • Translation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity). RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C).

Gene Wiki entry for FMR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FMR1 Gene

Genomics for FMR1 Gene

Genomic Location for FMR1 Gene

Start:
147,911,951 bp from pter
End:
147,951,127 bp from pter
Size:
39,177 bases
Orientation:
Plus strand

Genomic View for FMR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FMR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FMR1 Gene

Proteins for FMR1 Gene

  • Protein details for FMR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06787-FMR1_HUMAN
    Recommended name:
    Fragile X mental retardation protein 1
    Protein Accession:
    Q06787
    Secondary Accessions:
    • A6NNH4
    • D3DWT0
    • D3DWT1
    • D3DWT2
    • G8JL90
    • Q16578
    • Q5PQZ6
    • Q99054

    Protein attributes for FMR1 Gene

    Size:
    632 amino acids
    Molecular mass:
    71174 Da
    Quaternary structure:
    • Component of the CYFIP1-EIF4E-FMR1 complex which is composed of CYFIP, EIF4E and FMR1. Interacts with CYFIP1 and CYFIP2. The interaction with brain cytoplasmic RNA 1 (BC1) increases binding affinity for the CYFIP1-EIF4E complex in the brain (By similarity). Homooligomer. Found in a RNP granule complex with IGF2BP1. Directly interacts with SMN and TDRD3. Interacts with the SMN core complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts with FXR1, FXR2, IGF2BP1, NUFIP1, NUFIP2, MCRS1 and RANBP9.
    Miscellaneous:
    • RNA-binding activity is inhibited by RANBP9
    • The mechanism of the severe phenotype in the Asn-304 patient lies in the sequestration of bound mRNAs in nontranslatable mRNP particles. In the absence of FMRP, these same mRNAs may be partially translated via alternate mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome. Asn-304 mutation maps to a position within the second KH domain of FMRP that is critical for stabilizing sequence-specific RNA-protein interactions. Asn-304 mutation abrogates the association of the FMRP KH 2 domain with its target, kissing complex RNA
    SequenceCaution:
    • Sequence=AAA52458.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAA62466.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAA62467.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FMR1 Gene

    Alternative splice isoforms for FMR1 Gene

neXtProt entry for FMR1 Gene

Proteomics data for FMR1 Gene at MOPED

Post-translational modifications for FMR1 Gene

No data available for DME Specific Peptides for FMR1 Gene

Domains for FMR1 Gene

Protein Domains for FMR1 Gene

UniProtKB/Swiss-Prot:

FMR1_HUMAN
Domain:
  • The tandem Tudor domains preferentially recognize trimethylated histone peptides.:
    • Q06787
  • Contains 2 Agenet-like domains.:
    • Q06787
  • Contains 2 KH domains.:
    • Q06787
Family:
  • Belongs to the FMR1 family.:
    • Q06787
genes like me logo Genes that share domains with FMR1: view

No data available for Gene Families for FMR1 Gene

Function for FMR1 Gene

Molecular function for FMR1 Gene

GENATLAS Biochemistry: FRAXA syndrome nucleocytoplasmic shuttling protein with a 5utr polymorphic CGG repeat homodimerizing and heterodimerizing with FXR1,FXR2 (see symbols),expressed in fetal and adult brain and testis
UniProtKB/Swiss-Prot Function: Translation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity). RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C).

Gene Ontology (GO) - Molecular Function for FMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding TAS 8156595
GO:0003729 mRNA binding TAS 7692601
GO:0005515 protein binding IPI 10556305
GO:0008017 microtubule binding IEA --
genes like me logo Genes that share ontologies with FMR1: view
genes like me logo Genes that share phenotypes with FMR1: view

Animal Models for FMR1 Gene

MGI Knock Outs for FMR1:

miRNA for FMR1 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FMR1 Gene

Localization for FMR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FMR1 Gene

Cytoplasm. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FMR1 Gene COMPARTMENTS Subcellular localization image for FMR1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for FMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS 10888599
GO:0005730 nucleolus TAS 16407062
GO:0005737 cytoplasm TAS 16407062
GO:0005844 polysome --
genes like me logo Genes that share ontologies with FMR1: view

Pathways for FMR1 Gene

genes like me logo Genes that share pathways with FMR1: view

Pathways by source for FMR1 Gene

2 Cell Signaling Technology pathways for FMR1 Gene
1 KEGG pathway for FMR1 Gene

Gene Ontology (GO) - Biological Process for FMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007417 central nervous system development IEA --
GO:0017148 negative regulation of translation IBA --
GO:0045947 negative regulation of translational initiation ISS --
GO:0051028 mRNA transport IEA --
genes like me logo Genes that share ontologies with FMR1: view

Compounds for FMR1 Gene

(23) Novoseek inferred chemical compound relationships for FMR1 Gene

Compound -log(P) Hits PubMed IDs
ecori 46.4 5
sodium bisulfite 41.8 2
cytosine 39.5 5
hpaii 25.4 3
glutamate 25 13
genes like me logo Genes that share compounds with FMR1: view

Transcripts for FMR1 Gene

Unigene Clusters for FMR1 Gene

Fragile X mental retardation 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FMR1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^
SP1: - -
SP2: -
SP3: -
SP4: -
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 17a · 17b · 17c · 17d ^ 18 ^ 19 ^ 20a · 20b · 20c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7: - -
SP8:
SP9:
SP10:
SP11: -

Relevant External Links for FMR1 Gene

GeneLoc Exon Structure for
FMR1
ECgene alternative splicing isoforms for
FMR1

Expression for FMR1 Gene

mRNA expression in normal human tissues for FMR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FMR1 Gene

SOURCE GeneReport for Unigene cluster for FMR1 Gene Hs.103183

mRNA Expression by UniProt/SwissProt for FMR1 Gene

Q06787-FMR1_HUMAN
Tissue specificity: Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in epithelial tissues and at very low levels in glial cells.
genes like me logo Genes that share expressions with FMR1: view

Orthologs for FMR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FMR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FMR1 36
  • 99.63 (n)
  • 99.84 (a)
FMR1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FMR1 36
  • 94.83 (n)
  • 96.2 (a)
FMR1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FMR1 36
  • 95.83 (n)
  • 97.47 (a)
FMR1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fmr1 36
  • 95.06 (n)
  • 96.91 (a)
Fmr1 16
Fmr1 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FMR1 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FMR1 37
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fmr1 36
  • 94.72 (n)
  • 97.25 (a)
chicken
(Gallus gallus)
Aves FMR1 36
  • 84.74 (n)
  • 89.82 (a)
FMR1 37
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FMR1 37
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fmr1 36
  • 77.91 (n)
  • 85.41 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13155 36
zebrafish
(Danio rerio)
Actinopterygii -- 36
fmr1 36
  • 69.37 (n)
  • 71.83 (a)
fmr1 37
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Fmr1 36
  • 53.81 (n)
  • 49.65 (a)
Fmr1 37
  • 30 (a)
OneToMany
Fmr1 38
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 50 (a)
OneToMany
Species with no ortholog for FMR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FMR1 Gene

ENSEMBL:
Gene Tree for FMR1 (if available)
TreeFam:
Gene Tree for FMR1 (if available)

Paralogs for FMR1 Gene

Paralogs for FMR1 Gene

genes like me logo Genes that share paralogs with FMR1: view

Variants for FMR1 Gene

Sequence variations from dbSNP and Humsavar for FMR1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs25698 -- 147,928,297(+) GAAAT(A/G)TTCTG intron-variant
rs25699 -- 147,930,767(+) CCATA(C/T)ATTTG intron-variant
rs25700 -- 147,937,673(+) TGGAT(A/G)TTTTC intron-variant
rs25701 -- 147,940,765(+) GCAAA(A/G)CACTG intron-variant
rs25702 -- 147,941,167(+) GATGC(A/G)GTTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FMR1 Gene

Variant ID Type Subtype PubMed ID
nsv7141 CNV Loss 18451855
dgv2489e1 CNV Complex 17122850

Relevant External Links for FMR1 Gene

HapMap Linkage Disequilibrium report
FMR1
Human Gene Mutation Database (HGMD)
FMR1
Locus Specific Mutation Databases (LSDB)
FMR1

Disorders for FMR1 Gene

(3) OMIM Diseases for FMR1 Gene (309550)

UniProtKB/Swiss-Prot

FMR1_HUMAN
  • Fragile X syndrome (FRAX) [MIM:300624]: Common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region. {ECO:0000269 PubMed:7688265, ECO:0000269 PubMed:8401578, ECO:0000269 PubMed:8490650}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Fragile X tremor/ataxia syndrome (FXTAS) [MIM:300623]: In FXTAS, the expanded repeats range in size from 55 to 200 repeats and are referred to as premutations. Full repeat expansions with greater than 200 repeats results in fragile X mental retardation syndrome [MIM:300624]. Carriers of the premutation typically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical features of fragile X syndrome or mild cognitive and emotional problems. {ECO:0000269 PubMed:11445641}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Premature ovarian failure 1 (POF1) [MIM:311360]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269 PubMed:9719368}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(49) Novoseek inferred disease relationships for FMR1 Gene

Disease -log(P) Hits PubMed IDs
fragile x syndrome 99 221
mental retardation 95.4 150
fraxa syndrome 86.7 3
ovarian failure premature 84.1 27
fraxe syndrome 80.6 2

Relevant External Links for FMR1

GeneTests
FMR1
GeneReviews
FMR1
Genetic Association Database (GAD)
FMR1
Human Genome Epidemiology (HuGE) Navigator
FMR1
genes like me logo Genes that share disorders with FMR1: view

Publications for FMR1 Gene

  1. FXR1, an autosomal homolog of the fragile X mental retardation gene. (PMID: 7781595) Siomi M.C. … Dreyfuss G. (EMBO J. 1995) 3 4 23
  2. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. (PMID: 1710175) Verkerk A.J.M.H. … Warren S.T. (Cell 1991) 3 4 23
  3. Characterization of FMR1 proteins isolated from different tissues. (PMID: 7633450) Verheij C. … Hoogeveen A.T. (Hum. Mol. Genet. 1995) 3 4 23
  4. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. (PMID: 7688265) Siomi H. … Dreyfuss G. (Cell 1993) 3 4 23
  5. FMR1 protein: conserved RNP family domains and selective RNA binding. (PMID: 7692601) Ashley C.T. Jr. … Warren S.T. (Science 1993) 3 4 23

Products for FMR1 Gene

  • Addgene plasmids for FMR1

Sources for FMR1 Gene

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