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Aliases for FXR1 Gene

Aliases for FXR1 Gene

  • FMR1 Autosomal Homolog 1 2 3
  • Fragile X Mental Retardation, Autosomal Homolog 1 2 3 5
  • HFXR1p 3 4
  • Fragile X Mental Retardation Autosomal Homolog Variant P5FK 3
  • Fragile X Mental Retardation Autosomal Homolog Variant P1K 3
  • Fragile X Mental Retardation Autosomal Homolog Variant P2K 3
  • Fragile X Mental Retardation Autosomal Homolog Variant P4K 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 (FMR1 Autosomal Homolog 1) is a Protein Coding gene. Diseases associated with FXR1 include fragile x syndrome and x-linked disease. 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 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

Chromosome:
3
Start:
180,868,141 bp from pter
End:
180,982,753 bp from pter
Size:
114,613 bases
Orientation:
Plus strand

Genomic View for FXR1 Gene

Genes around FXR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FXR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P51114-FXR1_HUMAN
    Recommended name:
    Fragile X mental retardation syndrome-related protein 1
    Protein Accession:
    P51114
    Secondary Accessions:
    • A8K9B8
    • Q7Z450
    • Q8N6R8

    Protein attributes for FXR1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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 Lys 179, Lys 207, and Lys 246
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FXR1 (FXR1)

No data available for DME Specific Peptides for FXR1 Gene

Domains & Families for FXR1 Gene

Protein Domains for FXR1 Gene

Graphical View of Domain Structure for InterPro Entry

P51114

UniProtKB/Swiss-Prot:

FXR1_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 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:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,TAS 7781595
GO:0003730 mRNA 3-UTR binding IEA --
GO:0042803 protein homodimerization activity IDA 7489725
GO:0046982 protein heterodimerization activity IDA 7489725
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:

Animal Model Products

miRNA for FXR1 Gene

miRTarBase miRNAs that target FXR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FXR1 Gene

Localization for FXR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FXR1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FXR1 Gene COMPARTMENTS Subcellular localization image for FXR1 gene
Compartment Confidence
cytosol 5
nucleus 5
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus TAS 10888599
GO:0005737 cytoplasm IDA --
GO:0016020 membrane IDA 19946888
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with FXR1: view

Pathways & Interactions for FXR1 Gene

SuperPathways for FXR1 Gene

Superpath Contained pathways
1 RNA transport
genes like me logo Genes that share pathways with FXR1: view

Pathways by source for FXR1 Gene

1 KEGG pathway for FXR1 Gene

Gene Ontology (GO) - Biological Process for FXR1 Gene

None

No data available for SIGNOR curated interactions for FXR1 Gene

Drugs & Compounds for FXR1 Gene

No Compound Related Data Available

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: - -
SP9:
SP10: - -
SP11:
SP12: -
SP13: -

ExUns: 17b ^ 18a · 18b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:

Relevant External Links for FXR1 Gene

GeneLoc Exon Structure for
FXR1
ECgene alternative splicing isoforms for
FXR1

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 (x8.1).

Protein differential expression in normal tissues from HIPED for FXR1 Gene

This gene is overexpressed in Lung (27.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

P51114-FXR1_HUMAN
Tissue specificity: Expressed in all tissues examined including heart, brain, kidney and testis.
genes like me logo Genes that share expression patterns with FXR1: view

Protein tissue co-expression partners for FXR1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for FXR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FXR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FXR1 36
  • 100 (a)
OneToOne
FXR1 35
  • 99.89 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia FXR1 36
  • 100 (a)
OneToOne
FXR1 35
  • 96.56 (n)
  • 99.36 (a)
dog
(Canis familiaris)
Mammalia FXR1 35
  • 95.97 (n)
  • 98.39 (a)
FXR1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fxr1 16
Fxr1 35
  • 94.95 (n)
  • 98.07 (a)
Fxr1 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FXR1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FXR1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fxr1 35
  • 94.62 (n)
  • 98.52 (a)
chicken
(Gallus gallus)
Aves FXR1 35
  • 82.93 (n)
  • 92.43 (a)
FXR1 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FXR1 36
  • 83 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii fxr1 36
  • 70 (a)
OneToOne
fxr1 35
  • 68.74 (n)
  • 77.41 (a)
wufd18c10 35
fruit fly
(Drosophila melanogaster)
Insecta Fmr1 37
  • 48 (a)
Fmr1 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToMany
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

ENSEMBL:
Gene Tree for FXR1 (if available)
TreeFam:
Gene Tree for FXR1 (if available)

Paralogs for FXR1 Gene

Paralogs for FXR1 Gene

Pseudogenes.org 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
rs11499 - 180,976,267(+) AGAAG(C/T)AGCAG reference, missense, utr-variant-3-prime
rs1051080 - 180,968,137(+) AAGAT(A/G)ATCGA reference, missense
VAR_036050 A breast cancer sample
rs8588 -- 180,971,260(-) AATGT(A/T)TATGC intron-variant
rs13833 -- 180,971,730(-) AAACT(A/T)AGTAA intron-variant

Variation tolerance for FXR1 Gene

Residual Variation Intolerance Score: 10.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FXR1 Gene

HapMap Linkage Disequilibrium report
FXR1

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

(3) MalaCards diseases for FXR1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fragile x syndrome
  • mental retardation, x-linked, fraxe type
x-linked disease
specific developmental disorder
- elite association - COSMIC cancer census association via MalaCards
Search FXR1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FXR1

Genetic Association Database (GAD)
FXR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FXR1
genes like me logo Genes that share disorders with FXR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  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. Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients. (PMID: 18628314) Davidovic L. … Bardoni B. (J. Med. Genet. 2008) 3 23
  4. Two members of the Fxr gene family, Fmr1 and Fxr1, are differentially expressed in Xenopus tropicalis. (PMID: 15968590) Blonden L. … Willemsen R. (Int. J. Dev. Biol. 2005) 3 23
  5. Evidence that fragile X mental retardation protein is a negative regulator of translation. (PMID: 11157796) Laggerbauer B. … Fischer U. (Hum. Mol. Genet. 2001) 3 23

Products for FXR1 Gene

Sources for FXR1 Gene

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