View source for 8hae


==Cryo-EM structure of HACE1 dimer==
<StructureSection load='8hae' size='340' side='right'caption='[[8hae]], [[Resolution|resolution]] 4.55&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[8hae]] 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=8HAE OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8HAE 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]] 4.55&#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=8hae FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8hae OCA], [https://pdbe.org/8hae PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8hae RCSB], [https://www.ebi.ac.uk/pdbsum/8hae PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8hae ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/HACE1_HUMAN HACE1_HUMAN] Spastic paraplegia-severe developmental delay-epilepsy syndrome;Neuroblastoma. Defects in HACE1 are a cause of Wilms tumor (WT). WT is a pediatric malignancy of kidney and one of the most common solid cancers in childhood. HACE1 is epigenetically down-regulated in sporadic Wilms tumor. Moreover, a t(5;6)(q21;q21) translocation that truncates HACE1 has been found in a child with bilateral, young-onset Wilms tumor (PubMed:19948536).<ref>PMID:17694067</ref> <ref>PMID:19948536</ref>   The disease is caused by variants affecting the gene represented in this entry.
== Function ==
[https://www.uniprot.org/uniprot/HACE1_HUMAN HACE1_HUMAN] E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defense against pathogens. May also act as a transcription regulator via its interaction with RARB.<ref>PMID:15254018</ref> <ref>PMID:21988917</ref> <ref>PMID:22036506</ref> 
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Choong YK]]
[[Category: Machida S]]
[[Category: Ng J]]
[[Category: Shanker S]]
[[Category: Shi J]]
[[Category: Singh S]]
[[Category: Sivaraman J]]
[[Category: Tulsian NK]]
[[Category: Yaochen LD]]