1oa8: Difference between revisions
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==Overview== | ==Overview== | ||
Spinocerebellar ataxia type 1 is a late-onset neurodegenerative disease | Spinocerebellar ataxia type 1 is a late-onset neurodegenerative disease caused by the expansion of a CAG triplet repeat in the SCA1 gene. This results in the lengthening of a polyglutamine tract in the gene product ataxin-1. This produces a toxic gain of function that results in specific neuronal death. A region in ataxin-1, the AXH domain, exhibits significant sequence similarity to the transcription factor HBP1. This region of the protein has been implicated in RNA binding and self-association. We have determined the crystal structure of the AXH domain of ataxin-1. The AXH domain is dimeric and contains an OB-fold, a structural motif found in many oligonucleotide-binding proteins, supporting its proposed role in RNA binding. By structure comparison with other proteins that contain an OB-fold, a putative RNA-binding site has been identified. We also identified a cluster of charged surface residues that are well conserved among AXH domains. These residues may constitute a second ligand-binding surface, suggesting that all AXH domains interact with a common yet unidentified partner. | ||
==Disease== | ==Disease== | ||
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[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Single protein]] | [[Category: Single protein]] | ||
[[Category: Allen, M | [[Category: Allen, M D.]] | ||
[[Category: Bycroft, M.]] | [[Category: Bycroft, M.]] | ||
[[Category: Chen, Y | [[Category: Chen, Y W.]] | ||
[[Category: NA]] | [[Category: NA]] | ||
[[Category: dimerization]] | [[Category: dimerization]] | ||
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[[Category: rna-binding]] | [[Category: rna-binding]] | ||
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Revision as of 15:15, 21 February 2008
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AXH DOMAIN OF HUMAN SPINOCEREBELLAR ATAXIN-1
OverviewOverview
Spinocerebellar ataxia type 1 is a late-onset neurodegenerative disease caused by the expansion of a CAG triplet repeat in the SCA1 gene. This results in the lengthening of a polyglutamine tract in the gene product ataxin-1. This produces a toxic gain of function that results in specific neuronal death. A region in ataxin-1, the AXH domain, exhibits significant sequence similarity to the transcription factor HBP1. This region of the protein has been implicated in RNA binding and self-association. We have determined the crystal structure of the AXH domain of ataxin-1. The AXH domain is dimeric and contains an OB-fold, a structural motif found in many oligonucleotide-binding proteins, supporting its proposed role in RNA binding. By structure comparison with other proteins that contain an OB-fold, a putative RNA-binding site has been identified. We also identified a cluster of charged surface residues that are well conserved among AXH domains. These residues may constitute a second ligand-binding surface, suggesting that all AXH domains interact with a common yet unidentified partner.
DiseaseDisease
Known diseases associated with this structure: Spinocerebellar ataxia-1 OMIM:[601556]
About this StructureAbout this Structure
1OA8 is a Single protein structure of sequence from Homo sapiens with as ligand. Known structural/functional Site: . Full crystallographic information is available from OCA.
ReferenceReference
The structure of the AXH domain of spinocerebellar ataxin-1., Chen YW, Allen MD, Veprintsev DB, Lowe J, Bycroft M, J Biol Chem. 2004 Jan 30;279(5):3758-65. Epub 2003 Oct 28. PMID:14583607
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