RBFOX1 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | RBFOX1 |
| Official Name | RNA binding fox-1 homolog 1 [Source:HGNC Symbol;Acc:HGNC:18222] |
| Ensembl ID | ENSG00000078328 |
| Bio databases IDs | |
| Aliases | RNA binding fox-1 homolog 1, ataxin 2-binding protein 1, hexaribonucleotide binding protein 1 |
| Synonyms | 2BP1, A2bp, A2BP1, FOX-1, HRNBP1, LOC100287538, RNA binding fox-1 homolog 1, RNA binding protein, fox-1 homolog (C. elegans) 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RBFOX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Calcitonin gene-related peptide regulator C terminal
- RNA recognition motif (RRM) superfamily
- mRNA 3' UTR binding
- RNA recognition motif
- protein binding
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- chronic obstructive pulmonary disease
- COVID-19
- rubella
- gout
- schizophrenia
- refractive error
- insomnia
- major depression
- hyperopia
role in cell
- expression in
- alternative splicing by
- excitability
- alternative splicing in
- depolymerization in
- firing
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum/Golgi apparatus fractions
- polyribosome fractions
- ribonucleoprotein granule
- perinuclear region
- Nucleus
- cytosol
- trans Golgi network
- nucleoplasm
- stress granule
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RBFOX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- RNA splicing
- regulation of alternative nuclear mRNA splicing, via spliceosome
- nervous system development
- RNA transport
- mRNA processing
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear stress granule
- trans-Golgi network
- cytoplasmic stress granule
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- mRNA binding