Gene Gene information from NCBI Gene database.
Entrez ID 54715
Gene name RNA binding fox-1 homolog 1
Gene symbol RBFOX1
Synonyms (NCBI Gene)
2BP1A2BP1FOX-1FOX1HRNBP1
Chromosome 16
Chromosome location 16p13.3
Summary 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 atax
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs145873257 G>A,T Likely-benign, pathogenic Coding sequence variant, missense variant, synonymous variant
rs147023054 C>T Likely-benign, pathogenic Intron variant
rs372761949 G>A Pathogenic Missense variant, coding sequence variant, intron variant
rs974157467 GCTGCC>-,GCTGCCGCTGCC Pathogenic Coding sequence variant, inframe deletion, inframe insertion
rs1064794750 C>G,T Likely-pathogenic Synonymous variant, genic upstream transcript variant, coding sequence variant, intron variant, missense variant
miRNA miRNA information provided by mirtarbase database.
65
miRTarBase ID miRNA Experiments Reference
MIRT028610 hsa-miR-30a-5p Proteomics 18668040
MIRT032440 hsa-let-7b-5p Proteomics 18668040
MIRT666725 hsa-miR-562 HITS-CLIP 23824327
MIRT666724 hsa-miR-6832-3p HITS-CLIP 23824327
MIRT666723 hsa-miR-627-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IBA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0003723 Function RNA binding NAS 10814712
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605104 18222 ENSG00000078328
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NWB1
Protein name RNA binding protein fox-1 homolog 1 (Ataxin-2-binding protein 1) (Fox-1 homolog A) (Hexaribonucleotide-binding protein 1)
Protein 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. {ECO:0000269|PubMed:16537540}
PDB 2ERR , 2N82 , 4ZKA , 7VRL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 119 187 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF12414 Fox-1_C 253 342 Calcitonin gene-related peptide regulator C terminal Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in muscle and brain.
Sequence
MNCEREQLRGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPE
HTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLH
VSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTV
VEGRKIE
VNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSM
YSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVY
QDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPY
HHALAPAPTYGVGAMNAF
APLTDAKTRSHADDVGLVLSSLQASIYRGGYNRFAPY
Sequence length 397
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
461
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colorectal cancer Pathogenic rs2093621567 RCV001293843
Intellectual disability Likely pathogenic rs2510618048 RCV003329103
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Likely benign rs145873257 RCV005899819
Glioma susceptibility 1 Likely benign rs371317235 RCV005869858
Idiopathic generalized epilepsy Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign rs998828744, rs766344856, rs750798420, rs113298071, rs371393737, rs769491451, rs905562885, rs372085042, rs1435955739, rs2083432188, rs138704494, rs2094181320, rs2094642843, rs1417087822, rs757319815
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Intellectual disability, autosomal dominant 46 Conflicting classifications of pathogenicity rs1057521725 RCV005860077
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
16p11.2 Deletion Syndrome Inhibit 37903506
Adenocarcinoma Mucinous Associate 37768171
Adenoma Associate 23301059
Alcoholism Associate 31294817
Alzheimer Disease Associate 35627222
Arthritis Rheumatoid Associate 30423114
Attention Deficit Disorder with Hyperactivity Associate 19546859, 22678932
Autism Spectrum Disorder Associate 21614001, 22730494, 22952857, 32081867
Autistic Disorder Associate 19546859, 21614001, 22678932, 23575222, 26174448, 27260404, 31294817, 34535545, 37903506
Bipolar Disorder Associate 19567891, 39999946