View source for 8rgh


==Structure of dynein-2 intermediate chain DYNC2I1 (WDR60) in complex with the dynein-2 heavy chain DYNC2H1.==
<StructureSection load='8rgh' size='340' side='right'caption='[[8rgh]], [[Resolution|resolution]] 3.90&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[8rgh]] is a 6 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=8RGH OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8RGH 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]] 3.9&#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=8rgh FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8rgh OCA], [https://pdbe.org/8rgh PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8rgh RCSB], [https://www.ebi.ac.uk/pdbsum/8rgh PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8rgh 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> 
== 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).[https://www.uniprot.org/uniprot/MGMT_HUMAN MGMT_HUMAN] Involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) in DNA. Repairs alkylated guanine in DNA by stoichiometrically transferring the alkyl group at the O-6 position to a cysteine residue in the enzyme. This is a suicide reaction: the enzyme is irreversibly inactivated.
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Daly L]]
[[Category: Jenkins D]]
[[Category: Mukhopadhyay AG]]
[[Category: Roberts AJ]]
[[Category: Seda M]]
[[Category: Stephens DJ]]
[[Category: Toropova K]]
[[Category: Vuolo L]]
[[Category: Wells J]]