2k27: Difference between revisions
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==Solution structure of Human Pax8 Paired Box Domain== | ==Solution structure of Human Pax8 Paired Box Domain== | ||
<StructureSection load='2k27' size='340' side='right' caption='[[2k27 | <StructureSection load='2k27' size='340' side='right'caption='[[2k27]]' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2k27]] is a 1 chain structure with sequence from [ | <table><tr><td colspan='2'>[[2k27]] is a 1 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=2K27 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2K27 FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>[[ | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr> | ||
<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2k27 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2k27 OCA], [https://pdbe.org/2k27 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2k27 RCSB], [https://www.ebi.ac.uk/pdbsum/2k27 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2k27 ProSAT]</span></td></tr> | ||
<table> | </table> | ||
== Disease == | == Disease == | ||
[ | [https://www.uniprot.org/uniprot/PAX8_HUMAN PAX8_HUMAN] Defects in PAX8 are the cause of congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:[https://omim.org/entry/218700 218700]. CHNG2 is a disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.<ref>PMID:9590296</ref> <ref>PMID:11232006</ref> <ref>PMID:11502839</ref> | ||
== Function == | == Function == | ||
[ | [https://www.uniprot.org/uniprot/PAX8_HUMAN PAX8_HUMAN] Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells. | ||
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
Check<jmol> | Check<jmol> | ||
<jmolCheckbox> | <jmolCheckbox> | ||
<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/k2/2k27_consurf.spt"</scriptWhenChecked> | <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/k2/2k27_consurf.spt"</scriptWhenChecked> | ||
<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | ||
<text>to colour the structure by Evolutionary Conservation</text> | <text>to colour the structure by Evolutionary Conservation</text> | ||
</jmolCheckbox> | </jmolCheckbox> | ||
</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/ | </jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=2k27 ConSurf]. | ||
<div style="clear:both"></div> | <div style="clear:both"></div> | ||
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> | From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> | ||
</div> | </div> | ||
<div class="pdbe-citations 2k27" style="background-color:#fffaf0;"></div> | |||
==See Also== | ==See Also== | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Boelens | [[Category: Large Structures]] | ||
[[Category: Codutti | [[Category: Boelens R]] | ||
[[Category: Corazza | [[Category: Codutti L]] | ||
[[Category: Esposito | [[Category: Corazza A]] | ||
[[Category: Fogolari | [[Category: Esposito G]] | ||
[[Category: Fogolari F]] | |||
[[Category: Quadrifoglio | [[Category: Quadrifoglio F]] | ||
[[Category: Tell | [[Category: Tell G]] | ||
[[Category: Vascotto | [[Category: Vascotto C]] | ||
[[Category: Viglino | [[Category: Viglino P]] | ||
[[Category: | [[Category: Van Ingen H]] | ||