A2BP1

From Wikipedia, the free encyclopedia


Ataxin 2-binding protein 1
PDB rendering based on 2cq3.
Available structures: 2cq3, 2err
Identifiers
Symbol(s) A2BP1; FOX1; HRNBP1
External IDs OMIM: 605104 MGI1926224 HomoloGene69339
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 54715 268859
Ensembl ENSG00000078328 ENSMUSG00000008658
Uniprot Q9NWB1 Q3UYA8
Refseq NM_018723 (mRNA)
NP_061193 (protein)
NM_021477 (mRNA)
NP_067452 (protein)
Location Chr 16: 7.32 - 7.7 Mb Chr 16: 6.99 - 7.33 Mb
Pubmed search [1] [2]

Ataxin 2-binding protein 1, also known as A2BP1, is a human gene.[1]

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. Four alternatively spliced transcript variants have been found for this gene. Additional transcript variants have been found but their full length nature has not been determined.[1]

[edit] References

[edit] Further reading

  • Shibata H, Huynh DP, Pulst SM (2000). "A novel protein with RNA-binding motifs interacts with ataxin-2.". Hum. Mol. Genet. 9 (9): 1303-13. PMID 10814712. 
  • Kiehl TR, Shibata H, Vo T, et al. (2002). "Identification and expression of a mouse ortholog of A2BP1.". Mamm. Genome 12 (8): 595-601. PMID 11471052. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039. 
  • Underwood JG, Boutz PL, Dougherty JD, et al. (2005). "Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.". Mol. Cell. Biol. 25 (22): 10005-16. doi:10.1128/MCB.25.22.10005-10016.2005. PMID 16260614. 
  • Auweter SD, Fasan R, Reymond L, et al. (2006). "Molecular basis of RNA recognition by the human alternative splicing factor Fox-1.". EMBO J. 25 (1): 163-73. doi:10.1038/sj.emboj.7600918. PMID 16362037. 
  • Ponthier JL, Schluepen C, Chen W, et al. (2006). "Fox-2 splicing factor binds to a conserved intron motif to promote inclusion of protein 4.1R alternative exon 16.". J. Biol. Chem. 281 (18): 12468-74. doi:10.1074/jbc.M511556200. PMID 16537540. 
  • Lim J, Hao T, Shaw C, et al. (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 (2007). "Role for Fox-1/Fox-2 in mediating the neuronal pathway of calcitonin/calcitonin gene-related peptide alternative RNA processing.". Mol. Cell. Biol. 27 (3): 830-41. doi:10.1128/MCB.01015-06. PMID 17101796.