View source for 7t8c


==Heptameric Human Twinkle Helicase Clinical Variant W315L==
<StructureSection load='7t8c' size='340' side='right'caption='[[7t8c]], [[Resolution|resolution]] 4.50&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[7t8c]] is a 7 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7T8C OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7T8C FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 4.5&#8491;</td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=7t8c FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7t8c OCA], [https://pdbe.org/7t8c PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7t8c RCSB], [https://www.ebi.ac.uk/pdbsum/7t8c PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7t8c ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/PEO1_HUMAN PEO1_HUMAN] Mitochondrial DNA depletion syndrome, hepatocerebrorenal form;Infantile-onset spinocerebellar ataxia;Perrault syndrome;Autosomal dominant progressive external ophthalmoplegia;Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome. The disease is caused by variants affecting the gene represented in this entry.  The disease is caused by variants affecting the gene represented in this entry.  The disease is caused by variants affecting the gene represented in this entry.
== Function ==
[https://www.uniprot.org/uniprot/PEO1_HUMAN PEO1_HUMAN] Mitochondrial helicase involved in mtDNA replication and repair (PubMed:12975372, PubMed:15167897, PubMed:17324440, PubMed:18039713, PubMed:18971204, PubMed:25824949, PubMed:26887820, PubMed:27226550). Might have a role in mtDNA repair (PubMed:27226550). Has DNA strand separation activity needed to form a processive replication fork for leading strand synthesis which is catalyzed by the formation of a replisome complex with POLG and mtSDB (PubMed:12975372, PubMed:15167897, PubMed:18039713, PubMed:22383523, PubMed:26887820, PubMed:27226550). Preferentially unwinds DNA substrates with pre-existing 5'-and 3'- single-stranded tails but is also active on a 5'- flap substrate (PubMed:12975372, PubMed:15167897, PubMed:18039713, PubMed:22383523, PubMed:26887820, PubMed:27226550). Can dissociate the invading strand of immobile or mobile D-loop DNA structures irrespective of the single strand polarity of the third strand (PubMed:27226550). In addition to its DNA strand separation activity, also has DNA strand annealing, DNA strand-exchange and DNA branch migration activities (PubMed:22383523, PubMed:26887820, PubMed:27226550).<ref>PMID:12975372</ref> <ref>PMID:15167897</ref> <ref>PMID:17324440</ref> <ref>PMID:18039713</ref> <ref>PMID:18971204</ref> <ref>PMID:22383523</ref> <ref>PMID:25824949</ref> <ref>PMID:26887820</ref> <ref>PMID:27226550</ref>   Lack DNA unwinding and ATP hydrolysis activities (PubMed:18039713). Does not bind single-stranded or double-stranded DNA (PubMed:18039713).<ref>PMID:18039713</ref> 
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Borgnia MJ]]
[[Category: Bouvette J]]
[[Category: Copeland WC]]
[[Category: Krahn J]]
[[Category: Riccio AA]]