Species Human Entrez 54715 | Human Mouse Ensembl ENSG00000078328 | |
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Aliases RBFOX1, 2BP1, A2BP1, FOX-1, FOX1, HRNBP1, RNA binding protein, fox-1 homolog 1 External IDs MGI: 1926224 HomoloGene: 69339 GeneCards: RBFOX1 | ||
Fox-1 homolog A also known as ataxin 2-binding protein 1 (A2BP1) or hexaribonucleotide-binding protein 1 (HRNBP1) or RNA binding protein, fox-1 homolog (RBFOX1), is a protein that in humans is encoded by the RBFOX1 gene.
Function
Ataxin 2-binding protein 1 has an RNA recognition motif that is highly conserved among RNA-binding proteins. This 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 gene product of the SCA2 gene which causes familial neurodegenerative diseases. Several alternatively spliced transcript variants have been found for this gene. Some of these variants localize to the nucleus and some other to the cytoplasm. Nuclear variants have a well-established role in tissue specific alternative splicing. Rbfox1 cytoplasmic variants modulate mRNA stability and translation.