A2BP1
From Wikipedia, the free encyclopedia
Ataxin 2-binding protein 1
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PDB rendering based on 2cq3. | |||||||||||
Available structures: 2cq3, 2err | |||||||||||
Identifiers | |||||||||||
Symbol(s) | A2BP1; FOX1; HRNBP1 | ||||||||||
External IDs | OMIM: 605104 MGI: 1926224 HomoloGene: 69339 | ||||||||||
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RNA expression pattern | |||||||||||
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) |
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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: . 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: . 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: . 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: . 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: . 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: . 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: . PMID 17101796.