RBFOX1 (RNA binding fox-1 homolog 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54715
Gene name Gene Name - the full gene name approved by the HGNC.
RNA binding fox-1 homolog 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RBFOX1
Synonyms (NCBI Gene) Gene synonyms aliases
2BP1, A2BP1, FOX-1, FOX1, HRNBP1
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
Summary Summary of gene provided in NCBI Entrez 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 atax
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605104 18222 ENSG00000078328
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
VEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSM
YSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVY
QDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPYHHALAPAPTYGVGAMNAF
APLTDAKTRSHADDVGLVLSSLQASIYRGGYNRFAPY
Sequence length 397
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (29)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anxiety Disorder Anxiety N/A N/A GWAS
Autism autism susceptibility 1 N/A N/A GenCC
Breast Cancer Breast cancer N/A N/A GWAS
Cervical Cancer Cervical cancer N/A N/A GWAS
Show/Hide Text Mining Associations (57)
Associations from Text Mining Disease 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