2aq0: Difference between revisions
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==Solution structure of the human homodimeric dna repair protein XPF== | ==Solution structure of the human homodimeric dna repair protein XPF== | ||
<StructureSection load='2aq0' size='340' side='right'caption='[[2aq0 | <StructureSection load='2aq0' size='340' side='right'caption='[[2aq0]]' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2aq0]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/ | <table><tr><td colspan='2'>[[2aq0]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2AQ0 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2AQ0 FirstGlance]. <br> | ||
</td></tr><tr id=' | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</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=2aq0 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2aq0 OCA], [https://pdbe.org/2aq0 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2aq0 RCSB], [https://www.ebi.ac.uk/pdbsum/2aq0 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2aq0 ProSAT]</span></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=2aq0 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2aq0 OCA], [https://pdbe.org/2aq0 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2aq0 RCSB], [https://www.ebi.ac.uk/pdbsum/2aq0 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2aq0 ProSAT]</span></td></tr> | ||
</table> | </table> | ||
== Disease == | == Disease == | ||
[https://www.uniprot.org/uniprot/XPF_HUMAN XPF_HUMAN] Defects in ERCC4 are the cause of xeroderma pigmentosum complementation group F (XP-F) [MIM:[https://omim.org/entry/278760 278760]; also known as xeroderma pigmentosum VI (XP6). XP-F is an autosomal recessive disease characterized by hypersensitivity of the skin to sunlight followed by high incidence of skin cancer and frequent neurologic abnormalities.<ref>PMID:8797827</ref> <ref>PMID:9580660</ref> <ref>PMID:9579555</ref> Defects in ERCC4 are a cause of XFE progeroid syndrome (XFEPS) [MIM:[https://omim.org/entry/610965 610965]. This syndrome is illustrated by one patient who presented with dwarfism, cachexia and microcephaly.<ref>PMID:17183314</ref> | |||
== Function == | == Function == | ||
[https://www.uniprot.org/uniprot/XPF_HUMAN XPF_HUMAN] Structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.<ref>PMID:19596235</ref> | |||
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
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__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: | [[Category: Homo sapiens]] | ||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Boelens | [[Category: Boelens R]] | ||
[[Category: Das | [[Category: Das D]] | ||
[[Category: Folkers | [[Category: Folkers G]] | ||
[[Category: Hoeijmakers | [[Category: Hoeijmakers JH]] | ||
[[Category: Jaspers | [[Category: Jaspers NG]] | ||
[[Category: Kaptein | [[Category: Kaptein R]] | ||
[[Category: Tripsianes | [[Category: Tripsianes K]] | ||
