View source for 37ht


==Human sterile alpha motif domain-containing protein 9 (SAMD9), loss-of-function mutant R1562E/I1567R/E1568I==
<StructureSection load='37ht' size='340' side='right'caption='[[37ht]], [[Resolution|resolution]] 3.13&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[37ht]] is a 1 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=37HT OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=37HT 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]] 3.13&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><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=37ht FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=37ht OCA], [https://pdbe.org/37ht PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=37ht RCSB], [https://www.ebi.ac.uk/pdbsum/37ht PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=37ht ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/SAMD9_HUMAN SAMD9_HUMAN] MIRAGE syndrome;Familial normophosphatemic tumoral calcinosis. 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.  The disease is caused by variants affecting the gene represented in this entry. Germline mutations in SAMD9 with a suppressive effect on the cell cycle are associated with somatic loss of the chromosome 7 harboring the mutant allele. This results in the deletion of several genes and predisposes to the development of myelodysplastic syndrome and acute myelogenous leukemia.<ref>PMID:30046003</ref> 
== Function ==
[https://www.uniprot.org/uniprot/SAMD9_HUMAN SAMD9_HUMAN] Double-stranded nucleic acid binding that acts as an antiviral factor by playing an essential role in the formation of cytoplasmic antiviral granules (PubMed:25428864, PubMed:28157624). May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF-alpha signaling. Involved in the regulation of EGR1, in coordination with RGL2. May be involved in endosome fusion.<ref>PMID:16960814</ref> <ref>PMID:18094730</ref> <ref>PMID:21160498</ref> <ref>PMID:24029230</ref> <ref>PMID:25428864</ref> <ref>PMID:28157624</ref> 
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Dai X]]
[[Category: Mou Z]]
[[Category: Xiang Y]]
[[Category: Zhang F]]