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Aliases for RBFOX1 Gene

Aliases for RBFOX1 Gene

  • RNA Binding Protein, Fox-1 Homolog 1 2 3
  • RNA Binding Protein, Fox-1 Homolog (C. Elegans) 1 2 3 5
  • Hexaribonucleotide-Binding Protein 1 3 4
  • Ataxin 2-Binding Protein 1 2 3
  • Fox-1 Homolog A 3 4
  • HRNBP1 3 4
  • A2BP1 3 4
  • FOX1 3 4
  • Hexaribonucleotide Binding Protein 1 2
  • Fox-1-Like RNA-Binding Protein 1 3
  • Ataxin-2-Binding Protein 1 4
  • FOX-1 3
  • 2BP1 3
  • A2BP 4

External Ids for RBFOX1 Gene

Previous GeneCards Identifiers for RBFOX1 Gene

  • GC16P006033

Summaries for RBFOX1 Gene

Entrez Gene Summary for RBFOX1 Gene

  • The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

GeneCards Summary for RBFOX1 Gene

RBFOX1 (RNA Binding Protein, Fox-1 Homolog 1) is a Protein Coding gene. Diseases associated with RBFOX1 include Spinocerebellar Ataxia 2 and Sarcocystosis. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is RBFOX3.

UniProtKB/Swiss-Prot for RBFOX1 Gene

  • RNA-binding protein that regulates alternative splicing events by binding to 5-UGCAUGU-3 elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis.

Gene Wiki entry for RBFOX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBFOX1 Gene

Genomics for RBFOX1 Gene

Regulatory Elements for RBFOX1 Gene

Enhancers for RBFOX1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RBFOX1 on UCSC Golden Path with GeneCards custom track

Promoters for RBFOX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RBFOX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RBFOX1 Gene

5,239,782 bp from pter
7,713,340 bp from pter
2,473,559 bases
Plus strand

Genomic View for RBFOX1 Gene

Genes around RBFOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBFOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBFOX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBFOX1 Gene

Proteins for RBFOX1 Gene

  • Protein details for RBFOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    RNA binding protein fox-1 homolog 1
    Protein Accession:
    Secondary Accessions:
    • Q7Z7I7
    • Q8TAE3
    • Q8TAF2
    • Q8WYB2
    • Q9NS20

    Protein attributes for RBFOX1 Gene

    397 amino acids
    Molecular mass:
    42784 Da
    Quaternary structure:
    • Binds to the C-terminus of ATXN2.
    • Sequence=AAF78291.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBFOX1 Gene

    Alternative splice isoforms for RBFOX1 Gene


neXtProt entry for RBFOX1 Gene

Proteomics data for RBFOX1 Gene at MOPED

Post-translational modifications for RBFOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RBFOX1 Gene

Domains & Families for RBFOX1 Gene

Gene Families for RBFOX1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 RRM (RNA recognition motif) domain.
  • Contains 1 RRM (RNA recognition motif) domain.
genes like me logo Genes that share domains with RBFOX1: view

Function for RBFOX1 Gene

Molecular function for RBFOX1 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein that regulates alternative splicing events by binding to 5-UGCAUGU-3 elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis.

Gene Ontology (GO) - Molecular Function for RBFOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003729 mRNA binding IBA --
GO:0005515 protein binding IPI 16713569
genes like me logo Genes that share ontologies with RBFOX1: view
genes like me logo Genes that share phenotypes with RBFOX1: view

Animal Model Products

CRISPR Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBFOX1 Gene

Localization for RBFOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBFOX1 Gene

Nucleus. Cytoplasm.

Subcellular locations from

Jensen Localization Image for RBFOX1 Gene COMPARTMENTS Subcellular localization image for RBFOX1 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytosol 3
lysosome 2
vacuole 2

No data available for Gene Ontology (GO) - Cellular Components for RBFOX1 Gene

Pathways & Interactions for RBFOX1 Gene

SuperPathways for RBFOX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RBFOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development IBA --
GO:0050658 RNA transport NAS 10814712
GO:0050885 neuromuscular process controlling balance IEA --
genes like me logo Genes that share ontologies with RBFOX1: view

No data available for Pathways by source and SIGNOR curated interactions for RBFOX1 Gene

Drugs & Compounds for RBFOX1 Gene

No Compound Related Data Available

Transcripts for RBFOX1 Gene

mRNA/cDNA for RBFOX1 Gene

Unigene Clusters for RBFOX1 Gene

RNA binding protein, fox-1 homolog (C. elegans) 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RBFOX1 Gene

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

Relevant External Links for RBFOX1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RBFOX1 Gene

mRNA expression in normal human tissues for RBFOX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RBFOX1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.5), Muscle - Skeletal (x5.5), Brain - Nucleus accumbens (basal ganglia) (x5.2), Brain - Putamen (basal ganglia) (x5.2), Brain - Caudate (basal ganglia) (x4.6), Brain - Cortex (x4.4), and Brain - Anterior cingulate cortex (BA24) (x4.4).

Protein differential expression in normal tissues from HIPED for RBFOX1 Gene

This gene is overexpressed in Bone (43.0), Heart (15.8), and Fetal Brain (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RBFOX1 Gene

SOURCE GeneReport for Unigene cluster for RBFOX1 Gene Hs.459842

mRNA Expression by UniProt/SwissProt for RBFOX1 Gene

Tissue specificity: Predominantly expressed in muscle and brain.
genes like me logo Genes that share expression patterns with RBFOX1: view

Protein tissue co-expression partners for RBFOX1 Gene

Primer Products

Orthologs for RBFOX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RBFOX1 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia RBFOX1 35
  • 95.14 (n)
  • 98.8 (a)
  • 98 (a)
(Mus musculus)
Mammalia Rbfox1 35
  • 91.53 (n)
  • 97.84 (a)
Rbfox1 16
Rbfox1 36
  • 97 (a)
(Pan troglodytes)
Mammalia RBFOX1 35
  • 89.15 (n)
  • 87.95 (a)
  • 64 (a)
(Rattus norvegicus)
Mammalia Rbfox1 35
  • 89.74 (n)
  • 95.67 (a)
(Bos Taurus)
Mammalia RBFOX1 36
  • 83 (a)
(Monodelphis domestica)
Mammalia RBFOX1 36
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia RBFOX1 36
  • 82 (a)
(Gallus gallus)
Aves RBFOX1 35
  • 86.17 (n)
  • 92.33 (a)
  • 88 (a)
(Anolis carolinensis)
Reptilia RBFOX1 36
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rbfox1 35
  • 81.32 (n)
  • 90.11 (a)
(Danio rerio)
Actinopterygii Dr.11261 35
rbfox1 35
  • 81.49 (n)
  • 86.74 (a)
rbfox1 36
  • 84 (a)
fruit fly
(Drosophila melanogaster)
Insecta A2bp1 36
  • 16 (a)
(Caenorhabditis elegans)
Secernentea asd-1 36
  • 25 (a)
fox-1 36
  • 26 (a)
spn-4 36
  • 19 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1728 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3750 36
  • 32 (a)
Species with no ortholog for RBFOX1:
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for RBFOX1 Gene

Gene Tree for RBFOX1 (if available)
Gene Tree for RBFOX1 (if available)

Paralogs for RBFOX1 Gene

Paralogs for RBFOX1 Gene

genes like me logo Genes that share paralogs with RBFOX1: view

Variants for RBFOX1 Gene

Sequence variations from dbSNP and Humsavar for RBFOX1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs3859160 -- 5,239,164(-) AGCTG(C/G)GAGAG upstream-variant-2KB
rs3859161 -- 5,266,986(-) CTTTC(A/T)TGCCA intron-variant
rs3859162 -- 5,466,354(-) CAAAC(C/T)CCACA intron-variant
rs3859163 -- 5,472,389(-) AAATG(C/G)GTTTA intron-variant
rs3859164 -- 5,691,463(+) TAATT(C/G)AATGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RBFOX1 Gene

Variant ID Type Subtype PubMed ID
nsv905264 CNV Gain 21882294
nsv905265 CNV Gain 21882294
nsv905266 CNV Loss 21882294
esv2750455 CNV Deletion 23290073
nsv457362 CNV Loss 19166990
nsv471076 CNV Loss 18288195
nsv457364 CNV Gain 19166990
esv2664398 CNV Deletion 23128226
nsv905267 CNV Gain 21882294
nsv1726 CNV Insertion 18451855
nsv905268 CNV Loss 21882294
nsv457365 CNV Loss 19166990
nsv522983 CNV Loss 19592680
esv2670124 CNV Deletion 23128226
esv2444502 CNV Deletion 19546169
esv2548153 CNV Deletion 19546169
esv2675030 CNV Deletion 23128226
nsv519158 CNV Loss 19592680
esv2750456 CNV Deletion 23290073
nsv457366 CNV Loss 19166990
nsv526238 CNV Loss 19592680
nsv527101 CNV Loss 19592680
esv2658293 CNV Deletion 23128226
dgv459n67 CNV Loss 20364138
nsv821478 CNV Duplication 20802225
esv1467747 CNV Insertion 17803354
nsv520905 CNV Loss 19592680
nsv521039 CNV Loss 19592680
nsv103531 CNV Insertion 16902084
nsv457367 CNV Loss 19166990
dgv798e1 CNV Complex 17122850
nsv518384 CNV Gain 19592680
nsv510411 CNV Loss 20534489
esv2508614 CNV Deletion 19546169
esv2750457 CNV Deletion 23290073
nsv103669 CNV Loss 16902084
nsv520093 CNV Loss 19592680
nsv528564 CNV Gain 19592680
nsv905269 CNV Gain 21882294
dgv338n27 CNV Gain 19166990
nsv520695 CNV Loss 19592680
nsv471077 CNV Gain 18288195
dgv799e1 CNV Complex 17122850
nsv905270 CNV Gain 21882294
nsv524570 CNV Gain 19592680
dgv800e1 CNV Complex 17122850
nsv905271 CNV Gain 21882294
dgv114e55 CNV Gain 17911159
nsv522105 CNV Gain 19592680
nsv457372 CNV Loss 19166990
nsv522025 CNV Loss 19592680
esv2422241 CNV Deletion 17116639
esv1394865 CNV Deletion 17803354
dgv478e199 CNV Deletion 23128226
nsv523779 CNV Loss 19592680
esv2750458 CNV Deletion 23290073
esv2750459 CNV Deletion 23290073
nsv457373 CNV Loss 19166990
esv1442422 CNV Deletion 17803354
nsv519407 CNV Loss 19592680
dgv2593n71 CNV Loss 21882294
nsv457375 CNV Loss 19166990
nsv525921 CNV Loss 19592680
esv24834 CNV Gain 19812545
nsv437800 CNV Loss 16327808
esv34485 CNV Loss 17911159
dgv801e1 CNV Complex 17122850
nsv9343 CNV Gain 18304495
esv2670712 CNV Deletion 23128226
esv2673633 CNV Deletion 23128226
essv1540 CNV CNV 17122850
nsv905274 CNV Loss 21882294
nsv457376 CNV Loss 19166990
esv268107 CNV Insertion 20981092
esv274644 CNV Insertion 20981092
dgv2594n71 CNV Loss 21882294
esv2750460 CNV Deletion 23290073
nsv905276 CNV Loss 21882294
esv22255 CNV Loss 19812545
esv2658306 CNV Deletion 23128226
dgv339n27 CNV Loss 19166990
nsv457378 CNV Loss 19166990
dgv2595n71 CNV Loss 21882294
dgv2596n71 CNV Loss 21882294
nsv525006 CNV Loss 19592680
nsv471078 CNV Loss 18288195
esv1951064 CNV Deletion 18987734
esv2668307 CNV Deletion 23128226
nsv528734 CNV Loss 19592680
esv2750461 CNV Deletion 23290073
esv992566 CNV Insertion 20482838
esv1002783 CNV Gain 20482838
esv2750463 CNV Deletion 23290073
esv2750464 CNV Deletion 23290073
esv2750465 CNV Deletion 23290073
esv1283590 CNV Deletion 17803354
esv1009215 CNV Deletion 20482838
nsv103775 CNV Loss 16902084
nsv521646 CNV Loss 19592680
esv2664038 CNV Deletion 23128226
nsv528746 CNV Loss 19592680
nsv905284 CNV Loss 21882294
esv2657642 CNV Deletion 23128226
esv988798 CNV Loss 20482838
nsv905285 CNV Loss 21882294
nsv526472 CNV Gain 19592680
nsv905286 CNV Loss 21882294
esv2673238 CNV Deletion 23128226
dgv802e1 CNV Complex 17122850
nsv515947 CNV Loss 19592680
nsv827535 CNV Loss 20364138
esv2672802 CNV Deletion 23128226
nsv817718 CNV Loss 17921354
nsv457381 CNV Loss 19166990
nsv457382 CNV Loss 19166990
nsv905287 CNV Loss 21882294
nsv905288 CNV Loss 21882294
esv2636026 CNV Deletion 19546169
esv2665479 CNV Deletion 23128226
nsv827536 CNV Loss 20364138
esv2658834 CNV Deletion 23128226
nsv817719 CNV Loss 17921354
nsv457383 CNV Loss 19166990
esv34350 CNV Loss 17911159
esv2750466 CNV Deletion 23290073
nsv9344 CNV Loss 18304495
nsv827537 CNV Loss 20364138
nsv457384 CNV Loss 19166990
nsv517828 CNV Loss 19592680
nsv525047 CNV Loss 19592680
nsv521317 CNV Loss 19592680
nsv905289 CNV Loss 21882294
nsv1727 CNV Insertion 18451855
nsv526537 CNV Loss 19592680
nsv905290 CNV Loss 21882294
esv275331 CNV Loss 21479260
nsv518859 CNV Loss 19592680
nsv522167 CNV Loss 19592680
nsv905291 CNV Loss 21882294
nsv525094 CNV Loss 19592680
esv2436680 CNV Insertion 19546169
nsv527944 CNV Loss 19592680
nsv528008 CNV Loss 19592680
esv2581413 CNV Insertion 19546169
esv272825 CNV Insertion 20981092
esv270669 CNV Insertion 20981092
esv989383 CNV Deletion 20482838
esv1152754 CNV Deletion 17803354
esv1617393 CNV Deletion 17803354
nsv905292 CNV Loss 21882294
esv994369 CNV Loss 20482838
nsv1728 CNV Loss 18451855
esv25304 CNV Gain 19812545
esv34160 CNV Loss 18971310
esv2674369 CNV Deletion 23128226
esv2750467 CNV Deletion 23290073
dgv365e201 CNV Deletion 23290073
esv2750469 CNV Deletion 23290073
esv2750471 CNV Deletion 23290073
esv2750472 CNV Deletion 23290073
esv2713920 CNV Deletion 23290073
esv2713921 CNV Deletion 23290073
esv2713922 CNV Deletion 23290073
esv2660337 CNV Deletion 23128226
esv28814 CNV Gain 19812545
nsv1729 CNV Loss 18451855
nsv520018 CNV Loss 19592680
nsv457386 CNV Loss 19166990
nsv827538 CNV Loss 20364138
esv2678358 CNV Deletion 23128226
nsv905293 CNV Loss 21882294
nsv527093 CNV Loss 19592680
esv275330 CNV Gain+Loss 21479260
esv270074 CNV Insertion 20981092
esv272564 CNV Insertion 20981092
nsv827539 CNV Gain 20364138
esv2713923 CNV Deletion 23290073
esv2713924 CNV Deletion 23290073
nsv905294 CNV Loss 21882294
nsv507800 CNV Insertion 20534489
nsv524819 CNV Loss 19592680
esv267845 CNV Insertion 20981092

Variation tolerance for RBFOX1 Gene

Residual Variation Intolerance Score: 5.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBFOX1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBFOX1 Gene

Disorders for RBFOX1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RBFOX1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 2
  • amyotrophic lateral sclerosis 13
  • sarcosporidiosis
dengue shock syndrome
  • dss
benign epilepsy with centrotemporal spikes
  • centrotemporal epilepsy
autism spectrum disorder
  • pervasive development disorder
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RBFOX1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with RBFOX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBFOX1 Gene

Publications for RBFOX1 Gene

  1. A novel protein with RNA-binding motifs interacts with ataxin-2. (PMID: 10814712) Shibata H. … Pulst S.-M. (Hum. Mol. Genet. 2000) 2 3 4 23 67
  2. A2BP1 as a novel susceptible gene for primary biliary cirrhosis in Japanese patients. (PMID: 20153395) Joshita S. … Ota M. (Hum. Immunol. 2010) 3 23
  3. A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium. (PMID: 19508968) Zhai G. … Spector T.D. (J. Med. Genet. 2009) 3 23
  4. Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2. (PMID: 18794351) Zhang C. … Zhang M.Q. (Genes Dev. 2008) 3 23
  5. Role for Fox-1/Fox-2 in mediating the neuronal pathway of calcitonin/calcitonin gene-related peptide alternative RNA processing. (PMID: 17101796) Zhou H.L. … Lou H. (Mol. Cell. Biol. 2007) 3 23

Products for RBFOX1 Gene

Sources for RBFOX1 Gene