View source for 9hjc


==Cryo-EM structure of thiamine-bound human TPK1==
<StructureSection load='9hjc' size='340' side='right'caption='[[9hjc]], [[Resolution|resolution]] 2.10&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[9hjc]] 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=9HJC OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9HJC 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]] 2.1&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene>, <scene name='pdbligand=VIB:3-(4-AMINO-2-METHYL-PYRIMIDIN-5-YLMETHYL)-5-(2-HYDROXY-ETHYL)-4-METHYL-THIAZOL-3-IUM'>VIB</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=9hjc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9hjc OCA], [https://pdbe.org/9hjc PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9hjc RCSB], [https://www.ebi.ac.uk/pdbsum/9hjc PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9hjc ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/TPK1_HUMAN TPK1_HUMAN] Childhood encephalopathy due to thiamine pyrophosphokinase deficiency. Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:[https://omim.org/entry/614458 614458]: An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:22152682</ref> 
== Function ==
[https://www.uniprot.org/uniprot/TPK1_HUMAN TPK1_HUMAN] Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate.<ref>PMID:11342111</ref> 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Gabriel F]]
[[Category: Loew C]]