View source for 24ip


==Cryo-EM structure of the dimeric WDR11-FAM91A1-C17orf75 complex==
<StructureSection load='24ip' size='340' side='right'caption='[[24ip]], [[Resolution|resolution]] 3.07&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[24ip]] 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=24IP OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=24IP 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]] 3.07&#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=24ip FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=24ip OCA], [https://pdbe.org/24ip PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=24ip RCSB], [https://www.ebi.ac.uk/pdbsum/24ip PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=24ip ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/WDR11_HUMAN WDR11_HUMAN] Pituitary stalk interruption syndrome;Kallmann syndrome;Normosmic congenital hypogonadotropic hypogonadism. A chromosomal aberration involving WDR11 is found in a form of glioblastoma. Translocation t(10;19)(q26;q13.3) with ZNF320.<ref>PMID:11536051</ref>   A chromosomal aberration involving WDR11 is found in a form of Kallmann syndrome. Translocation 46,XY,t(10;12)(q26.12;q13.11).<ref>PMID:20887964</ref>   The disease is caused by variants affecting the gene represented in this entry.  The disease is caused by variants affecting the gene represented in this entry.
== Function ==
[https://www.uniprot.org/uniprot/WDR11_HUMAN WDR11_HUMAN] Involved in the Hedgehog (Hh) signaling pathway, is essential for normal ciliogenesis (PubMed:29263200). Regulates the proteolytic processing of GLI3 and cooperates with the transcription factor EMX1 in the induction of downstream Hh pathway gene expression and gonadotropin-releasing hormone production (PubMed:29263200). WDR11 complex facilitates the tethering of Adaptor protein-1 complex (AP-1)-derived vesicles. WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865).<ref>PMID:29263200</ref> <ref>PMID:29426865</ref> 
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Chen ZG]]
[[Category: Chen ZY]]
[[Category: Ding JP]]
[[Category: Liu ZM]]
[[Category: Zhang YF]]