View source for 8fgw


==Human IFT-A complex structures provide molecular insights into ciliary transport==
<StructureSection load='8fgw' size='340' side='right'caption='[[8fgw]], [[Resolution|resolution]] 3.70&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[8fgw]] 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=8FGW OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8FGW FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</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=8fgw FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8fgw OCA], [https://pdbe.org/8fgw PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8fgw RCSB], [https://www.ebi.ac.uk/pdbsum/8fgw PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8fgw ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/WDR35_HUMAN WDR35_HUMAN] Short rib-polydactyly syndrome, Verma-Naumoff type;Short rib-polydactyly syndrome type 5;Cranioectodermal dysplasia. 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. WDR35 mutations cause short rib-polydactyly syndrome through impaired cilia formation. Primary fibroblasts from SRTD7 patients lacking WDR35 fail to produce cilia (PubMed:21473986).<ref>PMID:21473986</ref>   The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. SRTD7/20 can be caused by co-occurrence of WDR35 variant p.Trp311Leu and INTU p.Gln276Ter. One such patient has been reported.<ref>PMID:27158779</ref> 
== Function ==
[https://www.uniprot.org/uniprot/WDR35_HUMAN WDR35_HUMAN] As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking (PubMed:21473986, PubMed:28400947, PubMed:29220510). May promote CASP3 activation and TNF-stimulated apoptosis.<ref>PMID:20193664</ref> <ref>PMID:21473986</ref> <ref>PMID:28400947</ref> <ref>PMID:29220510</ref> 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Hixson P]]
[[Category: Hwang SH]]
[[Category: Jiang M]]
[[Category: Miller D]]
[[Category: Mukhopadhyay S]]
[[Category: Palicharla VR]]
[[Category: Sun J]]
[[Category: Zhu H]]