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==Solution structure of the C-terminal PapD-like domain from human HYDIN protein== | |||
<StructureSection load='2e6j' size='340' side='right'caption='[[2e6j]]' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[2e6j]] 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=2E6J OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2E6J FirstGlance]. <br> | |||
</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=2e6j FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2e6j OCA], [https://pdbe.org/2e6j PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2e6j RCSB], [https://www.ebi.ac.uk/pdbsum/2e6j PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2e6j ProSAT], [https://www.topsan.org/Proteins/RSGI/2e6j TOPSAN]</span></td></tr> | |||
</table> | |||
== Disease == | |||
[https://www.uniprot.org/uniprot/HYDIN_HUMAN HYDIN_HUMAN] Defects in HYDIN are the cause of primary ciliary dyskinesia 5 (CILD5) [MIM:[https://omim.org/entry/608647 608647]. An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus. | |||
== Function == | |||
[https://www.uniprot.org/uniprot/HYDIN_HUMAN HYDIN_HUMAN] | |||
== | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | |||
Check<jmol> | |||
<jmolCheckbox> | |||
<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/e6/2e6j_consurf.spt"</scriptWhenChecked> | |||
<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | |||
<text>to colour the structure by Evolutionary Conservation</text> | |||
</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/main_output.php?pdb_ID=2e6j ConSurf]. | |||
<div style="clear:both"></div> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: | [[Category: Large Structures]] | ||
[[Category: Harada | [[Category: Harada T]] | ||
[[Category: Kigawa | [[Category: Kigawa T]] | ||
[[Category: Koshiba | [[Category: Koshiba S]] | ||
[[Category: Li | [[Category: Li H]] | ||
[[Category: Sato M]] | |||
[[Category: Sato | [[Category: Watanabe S]] | ||
[[Category: Watanabe | [[Category: Yokoyama S]] | ||
[[Category: Yokoyama | |||
Latest revision as of 21:47, 29 May 2024
Solution structure of the C-terminal PapD-like domain from human HYDIN proteinSolution structure of the C-terminal PapD-like domain from human HYDIN protein
Structural highlights
DiseaseHYDIN_HUMAN Defects in HYDIN are the cause of primary ciliary dyskinesia 5 (CILD5) [MIM:608647. An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus. FunctionEvolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. |
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