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] See more...

Aliases for FXR1 Gene

Aliases for FXR1 Gene

  • FMR1 Autosomal Homolog 1 2 3 5
  • Fragile X Mental Retardation Syndrome-Related Protein 1 3 4
  • Fragile X Mental Retardation, Autosomal Homolog 1 2 3
  • HFXR1p 4
  • 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 Monogenic Disease. Among its related pathways are HIV Life Cycle and RNA transport. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is FXR2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for FXR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FXR1 Gene

Genomics for FXR1 Gene

GeneHancer (GH) Regulatory Elements for FXR1 Gene

Promoters and enhancers for FXR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J180910 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.3 +45.0 44999 4.5 ZBTB40 CTCF FOXA1 POLR2A HCFC1 ZNF362 MYC RAD21 SP1 RELA NONHSAG036778.2 FXR1 ENSG00000242068 DNAJC19 CCDC39 HSALNG0031025
GH03J180870 Promoter/Enhancer 1 Ensembl ENCODE 0.6 +2.8 2822 3.5 L3MBTL2 ZNF680 ZNF316 NFE2 MGA EMSY E2F1 CCDC39 ENSG00000285336 LOC101928882 piR-35581 ENSG00000242068 FXR1 LOC105374240 lnc-TTC14-3
GH03J181289 Enhancer 0.2 FANTOM5 1.2 +421.8 421783 0.3 SOX2 DNAJC19 FXR1 hsa-miR-5095-355 FAUP2 SOX2-OT
GH03J180875 Enhancer 0.3 Ensembl 0.4 +7.6 7560 0.2 PRDM6 ENSG00000285336 FXR1 ENSG00000213157 lnc-CCDC39-2 RPL32P10
GH03J180929 Enhancer 0.5 Ensembl 0.2 +62.8 62760 4.6 MAFK PRDM1 ZNF316 HIC1 ZBTB33 EMSY CCDC39 ENSG00000242068 NONHSAG036778.2 HSALNG0031025 FXR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FXR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FXR1 gene promoter:
  • Arnt
  • ATF6
  • COMP1
  • GR
  • GR-alpha
  • RP58
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • USF2

Genomic Locations for FXR1 Gene

Genomic Locations for FXR1 Gene
chr3:180,868,141-180,982,753
(GRCh38/hg38)
Size:
114,613 bases
Orientation:
Plus strand
chr3:180,585,929-180,700,541
(GRCh37/hg19)
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 (PubMed:8668200, PubMed:7489725, PubMed:11157796). Interacts with FRX2 (PubMed:7489725). Interacts with TDRD3 (PubMed:18664458). Interacts with HABP4 (PubMed:21771594). Interacts with CYFIP2 but not with CYFIP1 (By similarity).
    • (Microbial infection) Interacts with Sindbis virus non-structural protein 3 (via C-terminus); this interaction inhibits the formation of host stress granules on viral mRNAs and the nsp3-FXR1 complexes bind viral RNAs and probably orchestrate the assembly of viral replication complexes.

    Three dimensional structures from OCA and Proteopedia for FXR1 Gene

    Alternative splice isoforms for FXR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FXR1 Gene

Post-translational modifications for FXR1 Gene

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

No data available for DME Specific Peptides for FXR1 Gene

Domains & Families for FXR1 Gene

Gene Families for FXR1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for FXR1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58644, highly similar to Fragile X mental retardation syndrome-related protein 1 (B4DXZ6_HUMAN)
  • Fragile X mental retardation syndrome-related protein 1 (FXR1_HUMAN)
  • FXR1 protein (Q14341_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51114

UniProtKB/Swiss-Prot:

FXR1_HUMAN :
  • The tandem Agenet-like domains preferentially recognize trimethylated histone peptides.
  • Belongs to the FMR1 family.
Domain:
  • The tandem Agenet-like domains preferentially recognize trimethylated histone peptides.
Family:
  • Belongs to the FMR1 family.
genes like me logo Genes that share domains with FXR1: view

Function for FXR1 Gene

Molecular function for FXR1 Gene

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).
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

Phenotypes From GWAS Catalog for FXR1 Gene

Gene Ontology (GO) - Molecular Function for FXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IEA 22658674
GO:0003729 mRNA binding IEA,IBA 21873635
GO:0003730 mRNA 3'-UTR binding IBA 21873635
GO:0005515 protein binding IPI 7489725
GO:0033592 RNA strand annealing activity IDA 17057366
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:
  • Fxr1 Fxr1<tm1.2Dln>
  • Fxr1 Fxr1<tm1Drad>

Animal Model Products

CRISPR Products

miRNA for FXR1 Gene

miRTarBase miRNAs that target FXR1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXR1

Clone Products

  • Addgene plasmids for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FXR1 gene
Compartment Confidence
cytosol 5
nucleus 4
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005730 nucleolus TAS 10888599
GO:0005737 cytoplasm TAS,IBA 21873635
GO:0005829 cytosol IDA --
GO:0005844 polysome IBA,TAS 21873635
genes like me logo Genes that share ontologies with FXR1: view

Pathways & Interactions 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

Gene Ontology (GO) - Biological Process for FXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006417 regulation of translation IEA --
GO:0006915 apoptotic process TAS 9642279
GO:0007275 multicellular organism development IEA --
GO:0007517 muscle organ development IEA --
GO:0017148 negative regulation of translation IBA 21873635
genes like me logo Genes that share ontologies with FXR1: view

No data available for SIGNOR curated interactions for FXR1 Gene

Drugs & Compounds for FXR1 Gene

No Compound Related Data Available

Transcripts for FXR1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXR1

Clone Products

  • Addgene plasmids for FXR1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FXR1 Gene



Protein tissue co-expression partners for FXR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FXR1 Gene:

FXR1

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.

Evidence on tissue expression from TISSUES for FXR1 Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Muscle(3.3)
  • Heart(2.7)
  • Lung(2.5)
genes like me logo Genes that share expression patterns with FXR1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FXR1 Gene

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 33 32
  • 99.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FXR1 33 32
  • 96.56 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FXR1 33
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FXR1 33 32
  • 95.97 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fxr1 17 33 32
  • 94.95 (n)
rat
(Rattus norvegicus)
Mammalia Fxr1 32
  • 94.62 (n)
oppossum
(Monodelphis domestica)
Mammalia FXR1 33
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves FXR1 33 32
  • 82.93 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FXR1 33
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fxr1 32
  • 79.45 (n)
Str.6155 32
zebrafish
(Danio rerio)
Actinopterygii fxr1 33 32
  • 68.74 (n)
OneToOne
wufd18c10 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10011 32
fruit fly
(Drosophila melanogaster)
Insecta Fmr1 33 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 48 (a)
OneToMany
Species where no ortholog for FXR1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FXR1: view image

Paralogs for FXR1 Gene

Paralogs for FXR1 Gene

(2) SIMAP similar genes for FXR1 Gene using alignment to 12 proteins:

  • FXR1_HUMAN
  • B4DXZ6_HUMAN
  • C9IZ22_HUMAN
  • C9J5B4_HUMAN
  • C9JAJ4_HUMAN
  • C9JY20_HUMAN
  • C9JYQ6_HUMAN
  • C9JZE0_HUMAN
  • E7EU85_HUMAN
  • E9PFF5_HUMAN
  • H7C4S4_HUMAN
  • Q14341_HUMAN

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 Variation AA Info Type
VAR_036050 A breast cancer sample p.Ala233Thr
rs1000019707 -- 180,970,421(+) T/A/C intron_variant
rs1000025176 -- 180,955,438(+) C/A intron_variant
rs1000049513 -- 180,929,422(+) G/A/C intron_variant
rs1000054324 -- 180,916,086(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FXR1 Gene

Variant ID Type Subtype PubMed ID
esv3598875 CNV gain 21293372
esv3598878 CNV loss 21293372
esv3598879 CNV gain 21293372
nsv1147853 CNV insertion 26484159

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)

Additional Variant Information for FXR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FXR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FXR1 Gene

Disorders for FXR1 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search FXR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 MC … Dreyfuss G (The EMBO journal 1995) 2 3 4 23 56
  2. Evidence that fragile X mental retardation protein is a negative regulator of translation. (PMID: 11157796) Laggerbauer B … Fischer U (Human molecular genetics 2001) 3 4 23 56
  3. The fragile-X-related gene FXR1 is a human autoantigen processed during apoptosis. (PMID: 9642279) Bolívar J … Valdivia MM (The Journal of biological chemistry 1998) 2 3 23 56
  4. 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 MC … Dreyfuss G (Molecular and cellular biology 1996) 3 4 23 56
  5. The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. (PMID: 7489725) Zhang Y … Dreyfuss G (The EMBO journal 1995) 3 4 23 56

Products for FXR1 Gene

Sources for FXR1 Gene