RBFOX1

RBFOX1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2ERR, 4ZKA, 2N82
Identifiers
Aliases	RBFOX1, 2BP1, A2BP1, FOX-1, FOX1, HRNBP1, RNA binding protein, fox-1 homolog 1
External IDs	MGI: 1926224 HomoloGene: 69339 GeneCards: RBFOX1
Genetically Related Diseases
refractive error, obesity[1]
Gene ontology Molecular function • nucleotide binding • protein C-terminus binding • protein binding • mRNA binding • RNA binding • nucleic acid binding Cellular component • cytoplasm • trans-Golgi network • nucleus Biological process • regulation of RNA splicing • mRNA processing • regulation of alternative mRNA splicing, via spliceosome • RNA splicing • nervous system development • RNA transport Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	54715	268859
Ensembl	ENSG00000078328	ENSMUSG00000008658
UniProt	Q9NWB1	Q9JJ43
RefSeq (mRNA)	NM_001142333 NM_001142334 NM_001308117 NM_018723 NM_145891 NM_145892 NM_145893	NM_021477 NM_183188
RefSeq (protein)	NP_001135805.1 NP_001135806.1 NP_061193.2 NP_665898.1 NP_665899.1 NP_665900.1	NP_067452.2 NP_899011.2
Location (UCSC)	Chr 16: 6.02 – 7.71 Mb	Chr 16: 6.81 – 7.41 Mb
PubMed search	[2]	[3]
Wikidata

View/Edit Human

View/Edit Mouse

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.^[4]

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.^[5] Rbfox1 cytoplasmic variants modulate mRNA stability and translation.^[6][7]

References

1. "Diseases that are genetically associated with RBFOX1 view/edit references on wikidata".
2. "Human PubMed Reference:".
3. "Mouse PubMed Reference:".
4. "Entrez Gene: A2BP1 ataxin 2-binding protein 1".
5. Kuroyanagi H (2009). "Fox-1 family of RNA-binding proteins". Cellular and Molecular Life Sciences : CMLS. 66 (24): 3895–907. doi:10.1007/s00018-009-0120-5. PMC 2777236. PMID 19688295.
6. Carreira-Rosario, Arnaldo; et al. (7 March 2016). "Repression of Pumilio Protein Expression by Rbfox1 Promotes Germ Cell Differentiation". Dev. Cell.
7. 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. PMID 26687839.

Further reading

• Gallagher TL, Arribere JA, Geurts PA, Exner CR, McDonald KL, Dill KK, Marr HL, Adkar SS, Garnett AT, Amacher SL, Conboy JG (November 2011). "Rbfox-regulated alternative splicing is critical for zebrafish cardiac and skeletal muscle functions". Developmental Biology. 359 (2): 251–61. doi:10.1016/j.ydbio.2011.08.025. PMID 21925157.
• 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. PMID 10814712.
• 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. PMID 11471052.
• Underwood JG, Boutz PL, Dougherty JD, Stoilov P, Black DL (November 2005). "Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals". Molecular and Cellular Biology. 25 (22): 10005–16. doi:10.1128/MCB.25.22.10005-10016.2005. PMC 1280273. PMID 16260614.
• Auweter SD, Fasan R, Reymond L, Underwood JG, Black DL, Pitsch S, Allain FH (January 2006). "Molecular basis of RNA recognition by the human alternative splicing factor Fox-1". The EMBO Journal. 25 (1): 163–73. doi:10.1038/sj.emboj.7600918. PMC 1356361. PMID 16362037.
• 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. PMID 16537540.
• 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. PMID 16713569.
• Zhou HL, Baraniak AP, Lou H (February 2007). "Role for Fox-1/Fox-2 in mediating the neuronal pathway of calcitonin/calcitonin gene-related peptide alternative RNA processing". Molecular and Cellular Biology. 27 (3): 830–41. doi:10.1128/MCB.01015-06. PMC 1800674. PMID 17101796.