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==Crystal structure of human PURA (fragment Glu57-Glu212, PUR repeat I and II) R140P mutant== | |||
<StructureSection load='8chv' size='340' side='right'caption='[[8chv]], [[Resolution|resolution]] 2.15Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[8chv]] is a 4 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=8CHV OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8CHV FirstGlance]. <br> | |||
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.15Å</td></tr> | |||
[[Category: | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8chv FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8chv OCA], [https://pdbe.org/8chv PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8chv RCSB], [https://www.ebi.ac.uk/pdbsum/8chv PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8chv ProSAT]</span></td></tr> | ||
[[Category: Janowski | </table> | ||
[[Category: Niessing | == Disease == | ||
[https://www.uniprot.org/uniprot/PURA_HUMAN PURA_HUMAN] Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion;PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation. The disease is caused by variants affecting the gene represented in this entry. | |||
== Function == | |||
[https://www.uniprot.org/uniprot/PURA_HUMAN PURA_HUMAN] This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene. May play a role in the initiation of DNA replication and in recombination. | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | |||
[[Category: Large Structures]] | |||
[[Category: Janowski R]] | |||
[[Category: Niessing D]] |
Latest revision as of 11:53, 21 February 2024
Crystal structure of human PURA (fragment Glu57-Glu212, PUR repeat I and II) R140P mutantCrystal structure of human PURA (fragment Glu57-Glu212, PUR repeat I and II) R140P mutant
Structural highlights
DiseasePURA_HUMAN Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion;PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation. The disease is caused by variants affecting the gene represented in this entry. FunctionPURA_HUMAN This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene. May play a role in the initiation of DNA replication and in recombination. |
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