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Revision as of 05:28, 11 August 2016 by Boghog(talk | contribs)(consistent citation formatting and removed further reading citations that are not specific to this gene)
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 RBFOX1gene.[5]
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.[6] Rbfox1 cytoplasmic variants modulate mRNA stability and translation.[7][8]
^Lee JA, Damianov A, Lin CH, Fontes M, Parikshak NN, Anderson ES, Geschwind DH, Black DL, Martin KC (2016). "Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes". Neuron. 89 (1): 113–28. doi:10.1016/j.neuron.2015.11.025. PMID26687839.
Shibata H, Huynh DP, Pulst SM (May 2000). "A novel protein with RNA-binding motifs interacts with ataxin-2". Human Molecular Genetics. 9 (9): 1303–13. doi:10.1093/hmg/9.9.1303. PMID10814712.
Kiehl TR, Shibata H, Vo T, Huynh DP, Pulst SM (August 2001). "Identification and expression of a mouse ortholog of A2BP1". Mammalian Genome. 12 (8): 595–601. doi:10.1007/s00335-001-2056-4. PMID11471052.
Ponthier JL, Schluepen C, Chen W, Lersch RA, Gee SL, Hou VC, Lo AJ, Short SA, Chasis JA, Winkelmann JC, Conboy JG (May 2006). "Fox-2 splicing factor binds to a conserved intron motif to promote inclusion of protein 4.1R alternative exon 16". The Journal of Biological Chemistry. 281 (18): 12468–74. doi:10.1074/jbc.M511556200. PMID16537540.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID16713569.
