View source for 7wu8


==Crystal structure of Harmonin-homology domain 2 (HHD2) of human RTEL1==
<StructureSection load='7wu8' size='340' side='right'caption='[[7wu8]], [[Resolution|resolution]] 1.60&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[7wu8]] 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=7WU8 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7WU8 FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.599&#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=7wu8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7wu8 OCA], [https://pdbe.org/7wu8 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7wu8 RCSB], [https://www.ebi.ac.uk/pdbsum/7wu8 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7wu8 ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/RTEL1_HUMAN RTEL1_HUMAN] Hoyeraal-Hreidarsson syndrome;Dyskeratosis congenita;Idiopathic pulmonary fibrosis. The disease is caused by variants affecting the gene represented in this entry. RTEL1 mutations have also been found in patients with a dyskeratosis congenita-like phenotype consisting of one feature of dyskeratosis congenita and short telomeres, in the absence of the typical DKC diagnostic triad (PubMed:23329068).<ref>PMID:23329068</ref>   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/RTEL1_HUMAN RTEL1_HUMAN] ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.[HAMAP-Rule:MF_03065]<ref>PMID:18957201</ref> <ref>PMID:23453664</ref> <ref>PMID:24009516</ref> 
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Kumar N]]
[[Category: Rothweiler U]]
[[Category: Singh M]]