2o23: Difference between revisions
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<StructureSection load='2o23' size='340' side='right'caption='[[2o23]], [[Resolution|resolution]] 1.20Å' scene=''> | <StructureSection load='2o23' size='340' side='right'caption='[[2o23]], [[Resolution|resolution]] 1.20Å' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2o23]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/ | <table><tr><td colspan='2'>[[2o23]] is a 2 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=2O23 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2O23 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">X-ray diffraction, [[Resolution|Resolution]] 1.2Å</td></tr> | ||
<tr id=' | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=NAD:NICOTINAMIDE-ADENINE-DINUCLEOTIDE'>NAD</scene></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=2o23 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2o23 OCA], [https://pdbe.org/2o23 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2o23 RCSB], [https://www.ebi.ac.uk/pdbsum/2o23 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2o23 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=2o23 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2o23 OCA], [https://pdbe.org/2o23 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2o23 RCSB], [https://www.ebi.ac.uk/pdbsum/2o23 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2o23 ProSAT]</span></td></tr> | ||
</table> | </table> | ||
== Disease == | == Disease == | ||
[https://www.uniprot.org/uniprot/HCD2_HUMAN HCD2_HUMAN] Defects in HSD17B10 are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:[https://omim.org/entry/300438 300438]. MHBD deficiency leads to neurological abnormalities, including psychomotor retardation, and, in virtually all patients, loss of mental and motor skills. Defects in HSD17B10 are the cause of mental retardation syndromic X-linked type 10 (MRXS10) [MIM:[https://omim.org/entry/300220 300220]. MRXS10 is characterized by mild mental retardation, choreoathetosis and abnormal behavior.<ref>PMID:17236142</ref> A chromosomal microduplication involving HSD17B10 and HUWE1 is the cause of mental retardation X-linked type 17 (MRX17) [MIM:[https://omim.org/entry/300705 300705]; also known as mental retardation X-linked type 31 (MRX31). Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation.<ref>PMID:18252223</ref> | |||
== Function == | == Function == | ||
[https://www.uniprot.org/uniprot/HCD2_HUMAN HCD2_HUMAN] Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5'-ends. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD).<ref>PMID:18984158</ref> | |||
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
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</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=2o23 ConSurf]. | </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=2o23 ConSurf]. | ||
<div style="clear:both"></div> | <div style="clear:both"></div> | ||
==See Also== | |||
*[[Hydroxysteroid dehydrogenase 3D structures|Hydroxysteroid dehydrogenase 3D structures]] | |||
== References == | == References == | ||
<references/> | <references/> | ||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: | [[Category: Homo sapiens]] | ||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Arrowsmith | [[Category: Arrowsmith C]] | ||
[[Category: Debreczeni | [[Category: Debreczeni J]] | ||
[[Category: Edwards A]] | |||
[[Category: Edwards | [[Category: Kavanagh KL]] | ||
[[Category: Kavanagh | [[Category: Oppermann U]] | ||
[[Category: Oppermann | [[Category: Scholer K]] | ||
[[Category: Shafqat N]] | |||
[[Category: Scholer | [[Category: Sundstrom M]] | ||
[[Category: Shafqat | [[Category: Weigelt J]] | ||
[[Category: Sundstrom | [[Category: Zschocke J]] | ||
[[Category: Weigelt | [[Category: Von Delft F]] | ||
[[Category: Zschocke | |||
[[Category: | |||