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Aliases for FXR1 Gene

Aliases for FXR1 Gene

  • Fragile X Mental Retardation, Autosomal Homolog 1 2 3
  • HFXR1p 3 4
  • Fragile X Mental Retardation Syndrome-Related Protein 1 3
  • FXR1P 3

External Ids for FXR1 Gene

Previous GeneCards Identifiers for FXR1 Gene

  • GC03P177391
  • GC03P181474
  • GC03P182032
  • GC03P181951
  • GC03P182113
  • GC03P180585
  • GC03P178034

Summaries for FXR1 Gene

Entrez Gene Summary for FXR1 Gene

  • The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for FXR1 Gene

FXR1 (Fragile X Mental Retardation, Autosomal Homolog 1) is a Protein Coding gene. Diseases associated with FXR1 include fragile x syndrome. Among its related pathways are Translational Control and Neuroscience. GO annotations related to this gene include RNA binding and G-quadruplex RNA binding. An important paralog of this gene is FXR2.

UniProtKB/Swiss-Prot for FXR1 Gene

  • RNA-binding protein required for embryonic and postnatal development of muscle tissue. May regulate intracellular transport and local translation of certain mRNAs (By similarity).

Gene Wiki entry for FXR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FXR1 Gene

Genomics for FXR1 Gene

Regulatory Elements for FXR1 Gene

Genomic Location for FXR1 Gene

180,868,141 bp from pter
180,982,753 bp from pter
114,613 bases
Plus strand

Genomic View for FXR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FXR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FXR1 Gene

Proteins for FXR1 Gene

  • Protein details for FXR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Fragile X mental retardation syndrome-related protein 1
    Protein Accession:
    Secondary Accessions:
    • A8K9B8
    • Q7Z450
    • Q8N6R8

    Protein attributes for FXR1 Gene

    621 amino acids
    Molecular mass:
    69721 Da
    Quaternary structure:
    • Interacts with FMR1 and FXR2. Interacts with TDRD3, and with CYFIP2 but not with CYFIP1.

    Three dimensional structures from OCA and Proteopedia for FXR1 Gene

    Alternative splice isoforms for FXR1 Gene


neXtProt entry for FXR1 Gene

Proteomics data for FXR1 Gene at MOPED

Post-translational modifications for FXR1 Gene

  • Arg-445 is dimethylated, probably to asymmetric dimethylarginine
  • Ubiquitination at Lys179, Lys207, Lys246, and Lys310
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FXR1 Gene

Domains for FXR1 Gene

Protein Domains for FXR1 Gene

Graphical View of Domain Structure for InterPro Entry



  • P51114
  • The tandem Tudor domains preferentially recognize trimethylated histone peptides.
  • Contains 2 Agenet-like domains.
  • Contains 2 KH domains.
  • Belongs to the FMR1 family.
genes like me logo Genes that share domains with FXR1: view

No data available for Gene Families for FXR1 Gene

Function for FXR1 Gene

Molecular function for FXR1 Gene

GENATLAS Biochemistry: cytoplasmic RNA binding protein (70kDa) homologous to FMR1 and FXR2 (see symbols),homodimerizing and heterodimerizing with them,expressed in fetal and adult brain testis,putative target for the autoimmune response,with several alternatively spliced isoforms
UniProtKB/Swiss-Prot Function: RNA-binding protein required for embryonic and postnatal development of muscle tissue. May regulate intracellular transport and local translation of certain mRNAs (By similarity).

Gene Ontology (GO) - Molecular Function for FXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002151 G-quadruplex RNA binding IEA --
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding TAS 7781595
GO:0003729 mRNA binding IBA --
GO:0003730 mRNA 3-UTR binding IEA --
genes like me logo Genes that share ontologies with FXR1: view
genes like me logo Genes that share phenotypes with FXR1: view

Animal Models for FXR1 Gene

MGI Knock Outs for FXR1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FXR1 Gene

Localization for FXR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FXR1 Gene


Subcellular locations from

Jensen Localization Image for FXR1 Gene COMPARTMENTS Subcellular localization image for FXR1 gene
Compartment Confidence
nucleus 4
cytosol 3
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005730 nucleolus TAS 10888599
GO:0005737 cytoplasm IDA --
GO:0005844 polysome IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with FXR1: view

Pathways for FXR1 Gene

genes like me logo Genes that share pathways with FXR1: view

Pathways by source for FXR1 Gene

2 Cell Signaling Technology pathways for FXR1 Gene
1 KEGG pathway for FXR1 Gene

Gene Ontology (GO) - Biological Process for FXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process TAS 9642279
GO:0007517 muscle organ development IEA --
GO:0017148 negative regulation of translation IBA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with FXR1: view

Transcripts for FXR1 Gene

Unigene Clusters for FXR1 Gene

Fragile X mental retardation, autosomal homolog 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FXR1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a ·
SP1: -
SP2: -
SP3: -
SP4: - -
SP5: -
SP6: - - -
SP7: - -
SP8: - -
SP10: - -
SP12: -
SP13: -

ExUns: 17b ^ 18a · 18b
SP10: -

Relevant External Links for FXR1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FXR1 Gene

mRNA expression in normal human tissues for FXR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FXR1 Gene

This gene is overexpressed in Muscle - Skeletal (8.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FXR1 Gene

SOURCE GeneReport for Unigene cluster for FXR1 Gene Hs.478407

mRNA Expression by UniProt/SwissProt for FXR1 Gene

Tissue specificity: Expressed in all tissues examined including heart, brain, kidney and testis.
genes like me logo Genes that share expressions with FXR1: view

Orthologs for FXR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FXR1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FXR1 35
  • 99.89 (n)
  • 100 (a)
FXR1 36
  • 100 (a)
(Bos Taurus)
Mammalia FXR1 35
  • 96.56 (n)
  • 99.36 (a)
FXR1 36
  • 100 (a)
(Canis familiaris)
Mammalia FXR1 35
  • 95.97 (n)
  • 98.39 (a)
FXR1 36
  • 100 (a)
(Mus musculus)
Mammalia Fxr1 35
  • 94.95 (n)
  • 98.07 (a)
Fxr1 16
Fxr1 36
  • 90 (a)
(Monodelphis domestica)
Mammalia FXR1 36
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia FXR1 36
  • 96 (a)
(Rattus norvegicus)
Mammalia Fxr1 35
  • 94.62 (n)
  • 98.52 (a)
(Gallus gallus)
Aves FXR1 35
  • 82.93 (n)
  • 92.43 (a)
FXR1 36
  • 88 (a)
(Anolis carolinensis)
Reptilia FXR1 36
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fxr1 35
  • 79.45 (n)
  • 88.51 (a)
Str.6155 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10011 35
(Danio rerio)
Actinopterygii fxr1 35
  • 68.74 (n)
  • 77.41 (a)
fxr1 36
  • 70 (a)
wufd18c10 35
fruit fly
(Drosophila melanogaster)
Insecta Fmr1 36
  • 31 (a)
Fmr1 37
  • 48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
Species with no ortholog for FXR1:
  • 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 FXR1 Gene

Gene Tree for FXR1 (if available)
Gene Tree for FXR1 (if available)

Paralogs for FXR1 Gene

Paralogs for FXR1 Gene Pseudogenes for FXR1 Gene

genes like me logo Genes that share paralogs with FXR1: view

Variants for FXR1 Gene

Sequence variations from dbSNP and Humsavar for FXR1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs2600 -- 180,982,336(-) TCATG(G/T)TAGGT utr-variant-3-prime
rs2601 -- 180,982,362(+) TGGAT(A/G)ACATT utr-variant-3-prime
rs2602 -- 180,982,337(-) ATCAT(G/T)GTAGG utr-variant-3-prime
rs8588 -- 180,971,260(-) AATGT(A/T)TATGC intron-variant
rs11499 - 180,976,267(+) AGAAG(C/T)AGCAG utr-variant-3-prime, reference, missense

Relevant External Links for FXR1 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FXR1 Gene

Disorders for FXR1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for FXR1 Gene including...

Search for FXR1 Gene in MalaCards »

(2) University of Copenhagen DISEASES for FXR1 Gene

(2) Novoseek inferred disease relationships for FXR1 Gene

Disease -log(P) Hits PubMed IDs
fragile x syndrome 81.2 2
mental retardation 69.1 4

Relevant External Links for FXR1

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with FXR1: view

No data available for UniProtKB/Swiss-Prot for FXR1 Gene

Publications for FXR1 Gene

  1. FXR1, an autosomal homolog of the fragile X mental retardation gene. (PMID: 7781595) Siomi M.C. … Dreyfuss G. (EMBO J. 1995) 2 3 4 23
  2. The fragile-X-related gene FXR1 is a human autoantigen processed during apoptosis. (PMID: 9642279) BolA-var J. … Valdivia M.M. (J. Biol. Chem. 1998) 2 3 23
  3. The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins. (PMID: 10888599) Tamanini F. … Hoogeveen A.T. (Hum. Mol. Genet. 2000) 3 23
  4. Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1. (PMID: 8634689) Coy J.F. … Poustka A. (Hum. Mol. Genet. 1995) 3 23
  5. 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. (PMID: 8668200) Siomi M.C. … Dreyfuss G. (Mol. Cell. Biol. 1996) 3 23

Products for FXR1 Gene

  • Addgene plasmids for FXR1

Sources for FXR1 Gene

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