View source for 8ouf


==The H/ACA RNP lobe of human telomerase with the dyskerin thumb loop in an open conformation==
<StructureSection load='8ouf' size='340' side='right'caption='[[8ouf]], [[Resolution|resolution]] 3.10&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[8ouf]] is a 10 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=8OUF OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8OUF 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]] 3.1&#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=8ouf FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8ouf OCA], [https://pdbe.org/8ouf PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8ouf RCSB], [https://www.ebi.ac.uk/pdbsum/8ouf PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8ouf ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/DKC1_HUMAN DKC1_HUMAN] Hoyeraal-Hreidarsson syndrome;Dyskeratosis congenita. The disease is caused by variants affecting the gene represented in this entry. Reduced rRNA pseudouridine levels in cells from patients (PubMed:25219674).<ref>PMID:25219674</ref>   The disease is caused by variants affecting the gene represented in this entry.
== Function ==
[https://www.uniprot.org/uniprot/DKC1_HUMAN DKC1_HUMAN] Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674). This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 (PubMed:25219674). Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance (PubMed:19179534, PubMed:25219674). Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme (PubMed:19179534).<ref>PMID:19179534</ref> <ref>PMID:25219674</ref>   Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression.<ref>PMID:21820037</ref> 
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Balch S]]
[[Category: Ghanim GE]]
[[Category: Nguyen THD]]
[[Category: Sekne Z]]
[[Category: Van Roon AMM]]