RBFOX1

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]

Description

RNA binding fox-1 homolog 1

Tissue specificity

Tissue enhanced (brain, skeletal muscle, tongue)

Subcell location

Nucleoplasm, Nucleoli fibrillar center, Golgi apparatus, Cytosol

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

16:p13.3 (5239802 - 7713340)

Ensembl ID

ENSG00000078328  (ver. 103.38)

Orthologs

Mouse Rbfox1: ENSMUSG00000008658

UniProt

Q9NWB1

neXtProt

NX_Q9NWB1

Human splice variants
Mouse splice variants