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| | <StructureSection load='5ec3' size='340' side='right'caption='[[5ec3]], [[Resolution|resolution]] 2.10Å' scene=''> | | <StructureSection load='5ec3' size='340' side='right'caption='[[5ec3]], [[Resolution|resolution]] 2.10Å' scene=''> |
| | == Structural highlights == | | == Structural highlights == |
| - | <table><tr><td colspan='2'>[[5ec3]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5EC3 OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=5EC3 FirstGlance]. <br> | + | <table><tr><td colspan='2'>[[5ec3]] 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=5EC3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=5EC3 FirstGlance]. <br> |
| - | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CO:COBALT+(II)+ION'>CO</scene></td></tr> | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.1Å</td></tr> |
| - | <tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[3isq|3isq]]</td></tr>
| + | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CO:COBALT+(II)+ION'>CO</scene></td></tr> |
| - | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">HPD, PPD ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</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=5ec3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5ec3 OCA], [https://pdbe.org/5ec3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=5ec3 RCSB], [https://www.ebi.ac.uk/pdbsum/5ec3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=5ec3 ProSAT]</span></td></tr> |
| - | <tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/4-hydroxyphenylpyruvate_dioxygenase 4-hydroxyphenylpyruvate dioxygenase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=1.13.11.27 1.13.11.27] </span></td></tr>
| + | |
| - | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=5ec3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5ec3 OCA], [http://pdbe.org/5ec3 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5ec3 RCSB], [http://www.ebi.ac.uk/pdbsum/5ec3 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5ec3 ProSAT]</span></td></tr> | + | |
| | </table> | | </table> |
| | == Disease == | | == Disease == |
| - | [[http://www.uniprot.org/uniprot/HPPD_HUMAN HPPD_HUMAN]] Defects in HPD are the cause of tyrosinemia type 3 (TYRO3) [MIM:[http://omim.org/entry/276710 276710]]. TYRO3 is an inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation.<ref>PMID:10942115</ref> <ref>PMID:11073718</ref> Defects in HPD are a cause of hawkinsinuria (HAWK) [MIM:[http://omim.org/entry/140350 140350]]. HAWK is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine.<ref>PMID:11073718</ref> | + | [https://www.uniprot.org/uniprot/HPPD_HUMAN HPPD_HUMAN] Defects in HPD are the cause of tyrosinemia type 3 (TYRO3) [MIM:[https://omim.org/entry/276710 276710]. TYRO3 is an inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation.<ref>PMID:10942115</ref> <ref>PMID:11073718</ref> Defects in HPD are a cause of hawkinsinuria (HAWK) [MIM:[https://omim.org/entry/140350 140350]. HAWK is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine.<ref>PMID:11073718</ref> |
| | == Function == | | == Function == |
| - | [[http://www.uniprot.org/uniprot/HPPD_HUMAN HPPD_HUMAN]] Key enzyme in the degradation of tyrosine. | + | [https://www.uniprot.org/uniprot/HPPD_HUMAN HPPD_HUMAN] Key enzyme in the degradation of tyrosine. |
| | | | |
| | ==See Also== | | ==See Also== |
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| | __TOC__ | | __TOC__ |
| | </StructureSection> | | </StructureSection> |
| - | [[Category: 4-hydroxyphenylpyruvate dioxygenase]] | + | [[Category: Homo sapiens]] |
| - | [[Category: Human]]
| + | |
| | [[Category: Large Structures]] | | [[Category: Large Structures]] |
| - | [[Category: Yang, G F]] | + | [[Category: Yang GF]] |
| - | [[Category: Yang, W C]] | + | [[Category: Yang WC]] |
| - | [[Category: Drug discovery]]
| + | |
| - | [[Category: Oxidoreductase]]
| + | |
| Structural highlights
Disease
HPPD_HUMAN Defects in HPD are the cause of tyrosinemia type 3 (TYRO3) [MIM:276710. TYRO3 is an inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation.[1] [2] Defects in HPD are a cause of hawkinsinuria (HAWK) [MIM:140350. HAWK is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine.[3]
Function
HPPD_HUMAN Key enzyme in the degradation of tyrosine.
See Also
References
- ↑ Ruetschi U, Cerone R, Perez-Cerda C, Schiaffino MC, Standing S, Ugarte M, Holme E. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. Hum Genet. 2000 Jun;106(6):654-62. PMID:10942115
- ↑ Tomoeda K, Awata H, Matsuura T, Matsuda I, Ploechl E, Milovac T, Boneh A, Scott CR, Danks DM, Endo F. Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. Mol Genet Metab. 2000 Nov;71(3):506-10. PMID:11073718 doi:10.1006/mgme.2000.3085
- ↑ Tomoeda K, Awata H, Matsuura T, Matsuda I, Ploechl E, Milovac T, Boneh A, Scott CR, Danks DM, Endo F. Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. Mol Genet Metab. 2000 Nov;71(3):506-10. PMID:11073718 doi:10.1006/mgme.2000.3085
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