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{{Infobox_gene}}
{{Infobox_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 ''RBFOX1''  [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: A2BP1 ataxin 2-binding protein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54715| accessdate = }}</ref>
'''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]].<ref name="entrez">{{cite web | title = Entrez Gene: A2BP1 ataxin 2-binding protein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54715| accessdate = }}</ref>


== Function ==
== Function ==


Ataxin 2-binding protein 1 has an [[RNA recognition motif]] that is highly conserved among [[RNA]]-[[binding protein]]s. This protein binds to the [[C-terminus]] of [[ATXN2|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.<ref name="pmid19688295">{{cite journal | vauthors = Kuroyanagi H | title = Fox-1 family of RNA-binding proteins | journal = Cellular and Molecular Life Sciences : CMLS | volume = 66 | issue = 24 | pages = 3895–907 | year = 2009 | pmid = 19688295 | pmc = 2777236 | doi = 10.1007/s00018-009-0120-5 }}</ref> Rbfox1 cytoplasmic variants modulate mRNA stability and translation.<ref>{{cite journal|last1=Carreira-Rosario|first1=Arnaldo, et al.|title=Repression of Pumilio Protein Expression by Rbfox1 Promotes Germ Cell Differentiation|journal=Dev. Cell|date=7 March 2016|url=http://www.cell.com/developmental-cell/abstract/S1534-5807(16)30034-X|doi=10.1016/j.devcel.2016.02.010}}</ref><ref name="pmid26687839">{{cite journal | vauthors = Lee JA, Damianov A, Lin CH, Fontes M, Parikshak NN, Anderson ES, Geschwind DH, Black DL, Martin KC | title = Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes | journal = Neuron | volume = 89 | issue = 1 | pages = 113–28 | year = 2016 | pmid = 26687839 | doi = 10.1016/j.neuron.2015.11.025 | pmc=4858412}}</ref> In stressed cells, Rbfox1 has been demonstrated to localize to cytoplasmic [[stress granule]]s.<ref>{{Cite journal|last=Park|first=Chungoo|last2=Choi|first2=Sunkyung|last3=Kim|first3=Yong-Eun|last4=Lee|first4=Siyeo|last5=Park|first5=Su-Hyung|last6=Adelstein|first6=Robert S.|last7=Kawamoto|first7=Sachiyo|last8=Kim|first8=Kee K.|date=2017-09-11|title=Stress Granules Contain Rbfox2 with Cell Cycle-related mRNAs|journal=Scientific Reports|volume=7|issue=1|pages=11211|doi=10.1038/s41598-017-11651-w|issn=2045-2322|pmc=5593835|pmid=28894257}}</ref><ref>{{Cite journal|last=Jain|first=Saumya|last2=Wheeler|first2=Joshua R.|last3=Walters|first3=Robert W.|last4=Agrawal|first4=Anurag|last5=Barsic|first5=Anthony|last6=Parker|first6=Roy|date=2016-01-28|title=ATPase-Modulated Stress Granules Contain a Diverse Proteome and Substructure|journal=Cell|volume=164|issue=3|pages=487–498|doi=10.1016/j.cell.2015.12.038|issn=1097-4172|pmc=4733397|pmid=26777405}}</ref>
Rbfox1 has an [[RNA recognition motif]] that is highly conserved among [[RNA-binding protein|RNA-binding proteins]]. Rbfox1, and the related protein [[RBM9|Rbfox2]], bind the consensus RNA sequence motif (U)GCAUG within [[intron|introns]] to exert their functions as [[alternative splicing]] factors.<ref name="Jin pp. 905–912">{{cite journal | last=Jin | first=Y. | title=A vertebrate RNA-binding protein Fox-1 regulates tissue-specific splicing via the pentanucleotide GCAUG | journal=The EMBO Journal | publisher=Wiley-Blackwell | volume=22 | issue=4 | date=2003-02-17 | issn=1460-2075 | doi=10.1093/emboj/cdg089 | pages=905–912| pmc=145449 }}</ref><ref name="Ponthier Schluepen Chen Lersch pp. 12468–12474">{{cite journal | last=Ponthier | first=Julie L. | last2=Schluepen | first2=Christina | last3=Chen | first3=Weiguo | last4=Lersch | first4=Robert A. | last5=Gee | first5=Sherry L. | last6=Hou | first6=Victor C. | last7=Lo | first7=Annie J. | last8=Short | first8=Sarah A. | last9=Chasis | first9=Joel A. | last10=Winkelmann | first10=John C. | last11=Conboy | first11=John G. | title=Fox-2 Splicing Factor Binds to a Conserved Intron Motif to Promote Inclusion of Protein 4.1R Alternative Exon 16 | journal=Journal of Biological Chemistry | publisher=American Society for Biochemistry & Molecular Biology (ASBMB) | volume=281 | issue=18 | date=2006-03-14 | issn=0021-9258 | doi=10.1074/jbc.m511556200 | pages=12468–12474}}</ref>
 
Additionally, the Rbfox1/A2BP1 protein binds to the [[C-terminus]] of [[ATXN2|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.<ref name="pmid19688295">{{cite journal | vauthors = Kuroyanagi H | title = Fox-1 family of RNA-binding proteins | journal = Cellular and Molecular Life Sciences : CMLS | volume = 66 | issue = 24 | pages = 3895–907 | year = 2009 | pmid = 19688295 | pmc = 2777236 | doi = 10.1007/s00018-009-0120-5 }}</ref> Rbfox1 cytoplasmic variants modulate mRNA stability and translation.<ref>{{cite journal|last1=Carreira-Rosario|first1=Arnaldo, et al.|title=Repression of Pumilio Protein Expression by Rbfox1 Promotes Germ Cell Differentiation|journal=Dev. Cell|date=7 March 2016|url=http://www.cell.com/developmental-cell/abstract/S1534-5807(16)30034-X|doi=10.1016/j.devcel.2016.02.010|pmc=4785839}}</ref><ref name="pmid26687839">{{cite journal | vauthors = Lee JA, Damianov A, Lin CH, Fontes M, Parikshak NN, Anderson ES, Geschwind DH, Black DL, Martin KC | title = Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes | journal = Neuron | volume = 89 | issue = 1 | pages = 113–28 | year = 2016 | pmid = 26687839 | doi = 10.1016/j.neuron.2015.11.025 | pmc=4858412}}</ref> In stressed cells, Rbfox1 has been demonstrated to localize to cytoplasmic [[stress granule]]s.<ref>{{Cite journal|last=Park|first=Chungoo|last2=Choi|first2=Sunkyung|last3=Kim|first3=Yong-Eun|last4=Lee|first4=Siyeo|last5=Park|first5=Su-Hyung|last6=Adelstein|first6=Robert S.|last7=Kawamoto|first7=Sachiyo|last8=Kim|first8=Kee K.|date=2017-09-11|title=Stress Granules Contain Rbfox2 with Cell Cycle-related mRNAs|journal=Scientific Reports|volume=7|issue=1|pages=11211|doi=10.1038/s41598-017-11651-w|issn=2045-2322|pmc=5593835|pmid=28894257}}</ref><ref>{{Cite journal|last=Jain|first=Saumya|last2=Wheeler|first2=Joshua R.|last3=Walters|first3=Robert W.|last4=Agrawal|first4=Anurag|last5=Barsic|first5=Anthony|last6=Parker|first6=Roy|date=2016-01-28|title=ATPase-Modulated Stress Granules Contain a Diverse Proteome and Substructure|journal=Cell|volume=164|issue=3|pages=487–498|doi=10.1016/j.cell.2015.12.038|issn=1097-4172|pmc=4733397|pmid=26777405}}</ref>
 
== See also ==
*[[Alternative splicing]]
*[[RNA-binding protein]]


== References ==
== References ==

Latest revision as of 09:21, 10 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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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.[1]

Function

Rbfox1 has an RNA recognition motif that is highly conserved among RNA-binding proteins. Rbfox1, and the related protein Rbfox2, bind the consensus RNA sequence motif (U)GCAUG within introns to exert their functions as alternative splicing factors.[2][3]

Additionally, the Rbfox1/A2BP1 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.[4] Rbfox1 cytoplasmic variants modulate mRNA stability and translation.[5][6] In stressed cells, Rbfox1 has been demonstrated to localize to cytoplasmic stress granules.[7][8]

See also

References

  1. ↑ "Entrez Gene: A2BP1 ataxin 2-binding protein 1".
  2. ↑ Jin, Y. (2003-02-17). "A vertebrate RNA-binding protein Fox-1 regulates tissue-specific splicing via the pentanucleotide GCAUG". The EMBO Journal. Wiley-Blackwell. 22 (4): 905–912. doi:10.1093/emboj/cdg089. ISSN 1460-2075. PMC 145449.
  3. ↑ Ponthier, Julie L.; Schluepen, Christina; Chen, Weiguo; Lersch, Robert A.; Gee, Sherry L.; Hou, Victor C.; Lo, Annie J.; Short, Sarah A.; Chasis, Joel A.; Winkelmann, John C.; Conboy, John G. (2006-03-14). "Fox-2 Splicing Factor Binds to a Conserved Intron Motif to Promote Inclusion of Protein 4.1R Alternative Exon 16". Journal of Biological Chemistry. American Society for Biochemistry & Molecular Biology (ASBMB). 281 (18): 12468–12474. doi:10.1074/jbc.m511556200. ISSN 0021-9258.
  4. ↑ 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.
  5. ↑ Carreira-Rosario, Arnaldo; et al. (7 March 2016). "Repression of Pumilio Protein Expression by Rbfox1 Promotes Germ Cell Differentiation". Dev. Cell. doi:10.1016/j.devcel.2016.02.010. PMC 4785839.
  6. ↑ 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. PMC 4858412. PMID 26687839.
  7. ↑ Park, Chungoo; Choi, Sunkyung; Kim, Yong-Eun; Lee, Siyeo; Park, Su-Hyung; Adelstein, Robert S.; Kawamoto, Sachiyo; Kim, Kee K. (2017-09-11). "Stress Granules Contain Rbfox2 with Cell Cycle-related mRNAs". Scientific Reports. 7 (1): 11211. doi:10.1038/s41598-017-11651-w. ISSN 2045-2322. PMC 5593835. PMID 28894257.
  8. ↑ Jain, Saumya; Wheeler, Joshua R.; Walters, Robert W.; Agrawal, Anurag; Barsic, Anthony; Parker, Roy (2016-01-28). "ATPase-Modulated Stress Granules Contain a Diverse Proteome and Substructure". Cell. 164 (3): 487–498. doi:10.1016/j.cell.2015.12.038. ISSN 1097-4172. PMC 4733397. PMID 26777405.

Further reading


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