Candidate Genes Diabetic Retinopathy

RNA binding protein, fox-1 homolog (C. elegans) 1

Official Symbol
RBFOX1
Alternative Names
2BP1;
FOX1;
A2BP1;
FOX-1;
HRNBP1;
fox-1 homolog A;
OTTHUMP00000159949;
OTTHUMP00000159950;
ataxin 2-binding protein 1;
hexaribonucleotide binding protein 1
Description
Ataxin-2 binding protein 1 has an RNP 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. Ataxin-2 binding protein 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. Additional transcript variants have been found but their full length nature has not been determined. A2BP1 regulates tissue-specific splicing by binding to the element (U)GCAUG in mRNA precursors. Depending on where it binds relative to the regulated exon, A2BP1 can regulate splicing positively or negatively
Location
16p13.3
Map
Chr 17
Start: 6,069,132 bp from pter
End: 7,763,340 bp from pter
Size: 1,694,209 bases
Orientation: plus strand
Exons and Introns
16 exons and 33 distinct gt-ag introns
Nucleotide Sequence
Aminoacid Sequence
Variation
rs2239 C/G
Motif
Pfam:Fox-1_C RRM_1 RRM_3
PROSITE:RRM
Interactors
Protein interactors
Ataxin 2
DMRTB1
Atrophin 1
Dishevelled 2
HLA-B associated transcript 2
NUMBL
Grancalcin
LW 1
Molecular Weight
44793 da
Molecular Class
RNA binding protein
Molecular Function
Regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements.
3D Structure