4rh7: Difference between revisions

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== Structural highlights ==

<table><tr><td colspan='2'>[[4rh7]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens] and [https://en.wikipedia.org/wiki/Synthetic_construct Synthetic construct]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4RH7 OCA]. For a guided tour on the structure components use [https://proteopedia.org/fgij/fg.htm?mol=4RH7 FirstGlance].

</td></tr><tr id='ligand'><td class="sblockLbl">[[Ligand|Ligands:]]</td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>, <scene name='pdbligand=AOV:ADP+ORTHOVANADATE'>AOV</scene>, <scene name='pdbligand=ATP:ADENOSINE-5-TRIPHOSPHATE'>ATP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr>

</td></tr><tr id='method'><td class="sblockLbl">[[Empirical_models|Method:]]</td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 3.41Å</td></tr>

<tr id='ligand'><td class="sblockLbl">[[Ligand|Ligands:]]</td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>, <scene name='pdbligand=AOV:ADP+ORTHOVANADATE'>AOV</scene>, <scene name='pdbligand=ATP:ADENOSINE-5-TRIPHOSPHATE'>ATP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr>

<tr id='resources'><td class="sblockLbl">Resources:</td><td class="sblockDat">[https://proteopedia.org/fgij/fg.htm?mol=4rh7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4rh7 OCA], [https://pdbe.org/4rh7 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4rh7 RCSB], [https://www.ebi.ac.uk/pdbsum/4rh7 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4rh7 ProSAT]</td></tr>

</table>

== Disease ==

[https://www.uniprot.org/uniprot/DYHC2_HUMAN DYHC2_HUMAN] Short rib-polydactyly syndrome, ~~Majewski~~ type;Short rib-polydactyly syndrome, ~~Saldino~~-~~Noonan~~ type;Jeune syndrome;Short rib-polydactyly syndrome, ~~Verma-Naumoff~~ type. The disease is caused by variants affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617).<ref>PMID:21211617</ref>

[https://www.uniprot.org/uniprot/DYHC2_HUMAN DYHC2_HUMAN] Short rib-polydactyly syndrome, Saldino-Noonan type;Short rib-polydactyly syndrome, Verma-Naumoff type;Jeune syndrome;Short rib-polydactyly syndrome, Majewski type. The disease is caused by variants affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617).<ref>PMID:21211617</ref>

== Function ==

[https://www.uniprot.org/uniprot/DYHC2_HUMAN DYHC2_HUMAN] May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity).

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@@ Line 4: / Line 4: @@
 == Structural highlights ==
 <table><tr><td colspan='2'>[[4rh7]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens] and [https://en.wikipedia.org/wiki/Synthetic_construct Synthetic construct]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4RH7 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4RH7 FirstGlance]. <br>
-</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>, <scene name='pdbligand=AOV:ADP+ORTHOVANADATE'>AOV</scene>, <scene name='pdbligand=ATP:ADENOSINE-5-TRIPHOSPHATE'>ATP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr>
+</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 3.41&#8491;</td></tr>
+<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>, <scene name='pdbligand=AOV:ADP+ORTHOVANADATE'>AOV</scene>, <scene name='pdbligand=ATP:ADENOSINE-5-TRIPHOSPHATE'>ATP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</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=4rh7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4rh7 OCA], [https://pdbe.org/4rh7 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4rh7 RCSB], [https://www.ebi.ac.uk/pdbsum/4rh7 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4rh7 ProSAT]</span></td></tr>
 </table>
 == Disease ==
-[https://www.uniprot.org/uniprot/DYHC2_HUMAN DYHC2_HUMAN] Short rib-polydactyly syndrome, Majewski type;Short rib-polydactyly syndrome, Saldino-Noonan type;Jeune syndrome;Short rib-polydactyly syndrome, Verma-Naumoff type. The disease is caused by variants affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617).<ref>PMID:21211617</ref>
+[https://www.uniprot.org/uniprot/DYHC2_HUMAN DYHC2_HUMAN] Short rib-polydactyly syndrome, Saldino-Noonan type;Short rib-polydactyly syndrome, Verma-Naumoff type;Jeune syndrome;Short rib-polydactyly syndrome, Majewski type. The disease is caused by variants affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617).<ref>PMID:21211617</ref>
 == Function ==
 [https://www.uniprot.org/uniprot/DYHC2_HUMAN DYHC2_HUMAN] May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity).