2car: Difference between revisions
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== | |||
<StructureSection load='2car' size='340' side='right' caption='[[2car]], [[Resolution|resolution]] 1.09Å' scene=''> | ==Crystal Structure Of Human Inosine Triphosphatase== | ||
<StructureSection load='2car' size='340' side='right'caption='[[2car]], [[Resolution|resolution]] 1.09Å' scene=''> | |||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2car]] is a 2 chain structure with sequence from [ | <table><tr><td colspan='2'>[[2car]] 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=2CAR OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2CAR FirstGlance]. <br> | ||
</td></tr><tr id=' | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.09Å</td></tr> | ||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2car FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2car OCA], [https://pdbe.org/2car PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2car RCSB], [https://www.ebi.ac.uk/pdbsum/2car PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2car ProSAT]</span></td></tr> | ||
</table> | </table> | ||
== Disease == | |||
[https://www.uniprot.org/uniprot/ITPA_HUMAN ITPA_HUMAN] Defects in ITPA are the cause of inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) [MIM:[https://omim.org/entry/613850 613850]. It is a common inherited trait characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes and also leukocytes and fibroblasts. The pathological consequences of ITPA deficiency, if any, are unknown. However, it might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs. Note=Three different human populations have been reported with respect to their ITPase activity: high, mean (25% of high) and low activity. The variant Thr-32 is associated with complete loss of enzyme activity, may be by altering the local secondary structure of the protein. Heterozygotes for this polymorphism have 22.5% of the control activity: this is consistent with a dimeric structure of the enzyme.[:]<ref>PMID:12384777</ref> <ref>PMID:12436200</ref> | |||
== Function == | |||
[https://www.uniprot.org/uniprot/ITPA_HUMAN ITPA_HUMAN] Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions.<ref>PMID:17090528</ref> | |||
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
Check<jmol> | Check<jmol> | ||
<jmolCheckbox> | <jmolCheckbox> | ||
<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ca/2car_consurf.spt"</scriptWhenChecked> | <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ca/2car_consurf.spt"</scriptWhenChecked> | ||
<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | ||
<text>to colour the structure by Evolutionary Conservation</text> | <text>to colour the structure by Evolutionary Conservation</text> | ||
</jmolCheckbox> | </jmolCheckbox> | ||
</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/ | </jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=2car ConSurf]. | ||
<div style="clear:both"></div> | <div style="clear:both"></div> | ||
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> | From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> | ||
</div> | </div> | ||
<div class="pdbe-citations 2car" style="background-color:#fffaf0;"></div> | |||
== References == | == References == | ||
<references/> | <references/> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: | [[Category: Large Structures]] | ||
[[Category: Arrowsmith | [[Category: Arrowsmith C]] | ||
[[Category: Berglund H]] | |||
[[Category: Berglund | [[Category: Edwards A]] | ||
[[Category: Edwards | [[Category: Ehn M]] | ||
[[Category: Ehn | [[Category: Flodin S]] | ||
[[Category: Flodin | [[Category: Flores A]] | ||
[[Category: Flores | [[Category: Graslund S]] | ||
[[Category: Graslund | [[Category: Hallberg BM]] | ||
[[Category: Hallberg | [[Category: Hammarstrom M]] | ||
[[Category: Hammarstrom | [[Category: Hogbom M]] | ||
[[Category: Hogbom | [[Category: Holmberg Schiavone L]] | ||
[[Category: Kotenyova | [[Category: Kotenyova T]] | ||
[[Category: Kursula | [[Category: Kursula P]] | ||
[[Category: Nilsson-Ehle | [[Category: Nilsson-Ehle P]] | ||
[[Category: Nordlund | [[Category: Nordlund P]] | ||
[[Category: Nyman | [[Category: Nyman T]] | ||
[[Category: Ogg | [[Category: Ogg D]] | ||
[[Category: Persson | [[Category: Persson C]] | ||
[[Category: Sagemark | [[Category: Sagemark J]] | ||
[[Category: Schuler H]] | |||
[[Category: Schuler | [[Category: Stenmark P]] | ||
[[Category: Stenmark | [[Category: Sundstrom M]] | ||
[[Category: Sundstrom | [[Category: Thorsell AG]] | ||
[[Category: Thorsell | [[Category: Weigelt J]] | ||
[[Category: Weigelt | [[Category: Van den Berg S]] | ||
[[Category: | |||