3kt9: Difference between revisions
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{{STRUCTURE_3kt9| PDB=3kt9 | SCENE= }} | {{STRUCTURE_3kt9| PDB=3kt9 | SCENE= }} | ||
===Aprataxin FHA Domain=== | ===Aprataxin FHA Domain=== | ||
{{ABSTRACT_PUBMED_20008512}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/APTX_HUMAN APTX_HUMAN]] Defects in APTX are the cause of ataxia-oculomotor apraxia syndrome (AOA) [MIM:[http://omim.org/entry/208920 208920]]. AOA is an autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.<ref>PMID:11586299</ref><ref>PMID:11586300</ref><ref>PMID:12196655</ref><ref>PMID:12629250</ref><ref>PMID:14506070</ref><ref>PMID:15852392</ref><ref>PMID:15699391</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/APTX_HUMAN APTX_HUMAN]] DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair. Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species. Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined. Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity.<ref>PMID:14755728</ref><ref>PMID:15044383</ref><ref>PMID:16547001</ref><ref>PMID:16964241</ref><ref>PMID:17276982</ref> | |||
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==About this Structure== | ==About this Structure== | ||
[[3kt9]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3KT9 OCA]. | |||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID: | <ref group="xtra">PMID:020008512</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Cherry, A L.]] | [[Category: Cherry, A L.]] | ||
[[Category: Smerdon, S J.]] | [[Category: Smerdon, S J.]] | ||
[[Category: Amp hydrolase]] | [[Category: Amp hydrolase]] | ||
[[Category: Beta sandwich]] | [[Category: Beta sandwich]] | ||
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[[Category: Neurodegeneration]] | [[Category: Neurodegeneration]] | ||
[[Category: Nucleus]] | [[Category: Nucleus]] | ||
[[Category: Zinc-finger]] | [[Category: Zinc-finger]] | ||