RBFOX1

Also known as 2BP1, A2BP1, FOX-1, FOX1, HRNBP1, RNA binding protein, fox-1 homolog 1, RNA binding fox-1 homolog 1

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.

Gene data

RBFOX1

Name: RNA binding fox-1 homolog 1
Type: protein-coding
Aliases: 2BP1, A2BP1, FOX-1, FOX1, HRNBP1

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].

via MyGene.info

Wikidata facts

Image: Protein A2BP1 PDB 2cq3.png

Sources (5)

~16 min read

Article

14 sections

Contents

Discovery
Structure
Function
Neurodevelopmental disorders
Autism spectrum disorder
Epilepsy
Attention deficit hyperactivity disorder
Schizophrenia
Neurodegenerative diseases
Spinocerebellar ataxia
Alzheimer's disease
See also
References
Further reading

== Discovery == The RBFOX1 gene was first studied in Caenorhabditis elegans (nematodes), Drosophila melanogaster (fruit flies), and Danio rerio (zebrafish) with origins in embryology and development. The derivation of the nomenclature for RBFOX1 comes from the original sexual differentiation studies in C. elegans where the gene was denoted as 'Feminizing locus On X' (Fox-1). This refers to a lethal splicing event which causes an increase in the chromosomal X:A ratio; feminizing XO males. In Drosophila, the gene is known as CG3206 and was noted to code for an RNA-binding protein, be affected by Notch-signaling, and be associated with non-D/V (dorso-ventral) cells of the wing discs during wing development. The 'RB' portion of the gene's name extends from the RNA-binding (RB) properties of the coded protein. In zebrafish, rbfox genes were identified as being essential for cardiac and skeletal muscle development, causing reduced heart rate and paralysis respectively in morphants. The discovery of RBFOX1 in humans was due to the interaction of Rbfox1 with ataxin-2, hence the alternative name of A2BP1 (or ataxin-2 binding protein-1).