6z4a
From Proteopedia
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==Structure of the human SAS-6 N-terminal domain, F131E mutant== | ==Structure of the human SAS-6 N-terminal domain, F131E mutant== | ||
| - | <StructureSection load='6z4a' size='340' side='right'caption='[[6z4a]]' scene=''> | + | <StructureSection load='6z4a' size='340' side='right'caption='[[6z4a]], [[Resolution|resolution]] 1.46Å' scene=''> |
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6Z4A OCA]. For a <b>guided tour on the structure components</b> use [ | + | <table><tr><td colspan='2'>[[6z4a]] 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=6Z4A OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6Z4A FirstGlance]. <br> |
| - | </td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.46Å</td></tr> |
| + | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</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=6z4a FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6z4a OCA], [https://pdbe.org/6z4a PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6z4a RCSB], [https://www.ebi.ac.uk/pdbsum/6z4a PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6z4a ProSAT]</span></td></tr> | ||
</table> | </table> | ||
| + | == Disease == | ||
| + | [https://www.uniprot.org/uniprot/SAS6_HUMAN SAS6_HUMAN] Autosomal recessive primary microcephaly. The disease is caused by variants affecting the gene represented in this entry. | ||
| + | == Function == | ||
| + | [https://www.uniprot.org/uniprot/SAS6_HUMAN SAS6_HUMAN] Central scaffolding component of the centrioles ensuring their 9-fold symmetry. Required for centrosome biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multiciliated cells. Overexpression results in excess foci-bearing centriolar markers. Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification (PubMed:22020124).<ref>PMID:15665853</ref> <ref>PMID:16244668</ref> <ref>PMID:17681131</ref> <ref>PMID:22020124</ref> | ||
| + | == References == | ||
| + | <references/> | ||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
| + | [[Category: Homo sapiens]] | ||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Busch JMC]] | [[Category: Busch JMC]] | ||
[[Category: Vakonakis I]] | [[Category: Vakonakis I]] | ||
Current revision
Structure of the human SAS-6 N-terminal domain, F131E mutant
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