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Aliases for FMR1 Gene

Aliases for FMR1 Gene

  • Fragile X Mental Retardation 1 2 3 5
  • FMRP 3 4
  • Premature Ovarian Failure 1 2
  • Protein FMR-1 4
  • FRAXA 3
  • POF1 3
  • POF 3

External Ids for FMR1 Gene

Previous HGNC Symbols for FMR1 Gene

  • POF1
  • POF

Previous GeneCards Identifiers for FMR1 Gene

  • GC0XP141519
  • GC0XP143827
  • GC0XP144850
  • GC0XP145661
  • GC0XP146699
  • GC0XP146801
  • GC0XP146993
  • GC0XP135963

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 syndrome and premature ovarian failure 1. Among its related pathways are RNA transport. GO annotations related to this gene include nucleic acid binding and RNA 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

Regulatory Elements for FMR1 Gene

Promoters for FMR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FMR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FMR1 Gene

Chromosome:
X
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

Genes around FMR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FMR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FMR1 (FMR1)

No data available for DME Specific Peptides for FMR1 Gene

Domains & Families for FMR1 Gene

Protein Domains for FMR1 Gene

Suggested Antigen Peptide Sequences for FMR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q06787

UniProtKB/Swiss-Prot:

FMR1_HUMAN :
  • The tandem Tudor domains preferentially recognize trimethylated histone peptides.
  • Belongs to the FMR1 family.
Domain:
  • The tandem Tudor domains preferentially recognize trimethylated histone peptides.
  • Contains 2 Agenet-like domains.
  • Contains 2 KH domains.
Family:
  • Belongs to the FMR1 family.
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:0003723 RNA binding IEA,IDA 15381419
GO:0003730 mRNA 3-UTR binding IDA 17417632
GO:0008266 poly(U) RNA binding IDA 7688265
GO:0033592 RNA strand annealing activity IDA 17057366
GO:0034046 poly(G) binding IDA 7688265
genes like me logo Genes that share ontologies with FMR1: view
genes like me logo Genes that share phenotypes with FMR1: view

Human Phenotype Ontology for FMR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FMR1 Gene

MGI Knock Outs for FMR1:

Animal Model Products

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

Localization for FMR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FMR1 Gene

Cytoplasm. Nucleus. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FMR1 Gene COMPARTMENTS Subcellular localization image for FMR1 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005730 nucleolus TAS 16407062
GO:0019897 extrinsic component of plasma membrane ISS --
GO:0030424 axon IEA,ISS --
GO:0030425 dendrite IEA,ISS --
genes like me logo Genes that share ontologies with FMR1: view

Pathways & Interactions for FMR1 Gene

SuperPathways for FMR1 Gene

Superpath Contained pathways
1 RNA transport
genes like me logo Genes that share pathways with FMR1: view

Pathways by source 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:0045947 negative regulation of translational initiation ISS --
GO:0051028 mRNA transport IEA,ISS --
GO:1901800 positive regulation of proteasomal protein catabolic process ISS --
GO:2000301 negative regulation of synaptic vesicle exocytosis ISS --
genes like me logo Genes that share ontologies with FMR1: view

No data available for SIGNOR curated interactions for FMR1 Gene

Drugs & Compounds for FMR1 Gene

(19) Drugs for FMR1 Gene - From: Novoseek and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lovastatin Approved, Investigational Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor 59
Minocycline Approved, Investigational Pharma 173
Anti-Bacterial Agents Pharma 9140
Anticholesteremic Agents Pharma 1732
Anti-Infective Agents Pharma 17220

(14) Additional Compounds for FMR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Protein differential expression in normal tissues from HIPED for FMR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.7), Lung (14.9), and Fetal ovary (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with FMR1: view

Protein tissue co-expression partners for FMR1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FMR1 Gene

Orthologs for FMR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FMR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FMR1 35
  • 94.83 (n)
  • 96.2 (a)
FMR1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FMR1 35
  • 95.83 (n)
  • 97.47 (a)
FMR1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fmr1 35
  • 95.06 (n)
  • 96.91 (a)
Fmr1 16
Fmr1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FMR1 35
  • 99.63 (n)
  • 99.84 (a)
FMR1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fmr1 35
  • 94.72 (n)
  • 97.25 (a)
oppossum
(Monodelphis domestica)
Mammalia FMR1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FMR1 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves FMR1 35
  • 84.74 (n)
  • 89.82 (a)
FMR1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FMR1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fmr1 35
  • 77.91 (n)
  • 85.41 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
fmr1 35
  • 69.37 (n)
  • 71.83 (a)
fmr1 36
  • 72 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13155 35
fruit fly
(Drosophila melanogaster)
Insecta Fmr1 37
  • 45 (a)
Fmr1 35
  • 53.81 (n)
  • 49.65 (a)
Fmr1 36
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
VAR_005234 Fragile X syndrome (FRAX)
VAR_005235 -
rs29281 - 147,929,961(+) AAGAG(G/T)CGGCA nc-transcript-variant, reference, missense
VAR_064507 -
rs25698 -- 147,928,297(+) GAAAT(A/G)TTCTG 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

Variation tolerance for FMR1 Gene

Residual Variation Intolerance Score: 69.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.12; 38.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FMR1 Gene

HapMap Linkage Disequilibrium report
FMR1
Human Gene Mutation Database (HGMD)
FMR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FMR1 Gene

Disorders for FMR1 Gene

MalaCards: The human disease database

(26) MalaCards diseases for FMR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fragile x syndrome
  • fragile x mental retardation syndrome
premature ovarian failure 1
  • turner syndrome
fragile x tremor/ataxia syndrome
  • fxtas
fragile x-associated tremor/ataxia syndrome
  • fragile x tremor/ataxia syndrome
fragile x-associated primary ovarian insufficiency
  • premature ovarian failure 1
- elite association - COSMIC cancer census association via MalaCards
Search FMR1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for FMR1

Genetic Association Database (GAD)
FMR1
Human Genome Epidemiology (HuGE) Navigator
FMR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FMR1
genes like me logo Genes that share disorders with FMR1: view

No data available for Genatlas for FMR1 Gene

Publications for FMR1 Gene

  1. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. (PMID: 16184602) Hessl D. … Hagerman R.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2005) 3 23 48 67
  2. Examination of FMR1 transcript and protein levels among 74 premutation carriers. (PMID: 19927162) Peprah E. … Sherman S.L. (J. Hum. Genet. 2010) 3 23
  3. Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. (PMID: 20118148) Godler D.E. … Slater H.R. (Hum. Mol. Genet. 2010) 3 23
  4. hnRNP C promotes APP translation by competing with FMRP for APP mRNA recruitment to P bodies. (PMID: 20473314) Lee E.K. … Gorospe M. (Nat. Struct. Mol. Biol. 2010) 3 23
  5. Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. (PMID: 20221430) Collins S.C. … Warren S.T. (PLoS ONE 2010) 3 23

Products for FMR1 Gene

Sources for FMR1 Gene

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