Aliases for RBFOX1 Gene
External Ids for RBFOX1 Gene
Previous GeneCards Identifiers 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 RBFOX2.
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.