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| | ==Solution structure of B domain from human propionyl-CoA carboxylase alpha subunit== | | ==Solution structure of B domain from human propionyl-CoA carboxylase alpha subunit== |
| - | <StructureSection load='2cqy' size='340' side='right' caption='[[2cqy]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | + | <StructureSection load='2cqy' size='340' side='right'caption='[[2cqy]]' scene=''> |
| | == Structural highlights == | | == Structural highlights == |
| - | <table><tr><td colspan='2'>[[2cqy]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2CQY OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2CQY FirstGlance]. <br> | + | <table><tr><td colspan='2'>[[2cqy]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2CQY OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2CQY FirstGlance]. <br> |
| - | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">PCCA ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr> | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr> |
| - | <tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Propionyl-CoA_carboxylase Propionyl-CoA carboxylase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=6.4.1.3 6.4.1.3] </span></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=2cqy FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2cqy OCA], [https://pdbe.org/2cqy PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2cqy RCSB], [https://www.ebi.ac.uk/pdbsum/2cqy PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2cqy ProSAT], [https://www.topsan.org/Proteins/RSGI/2cqy TOPSAN]</span></td></tr> |
| - | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2cqy FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2cqy OCA], [http://pdbe.org/2cqy PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2cqy RCSB], [http://www.ebi.ac.uk/pdbsum/2cqy PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2cqy ProSAT], [http://www.topsan.org/Proteins/RSGI/2cqy TOPSAN]</span></td></tr> | + | |
| | </table> | | </table> |
| | == Disease == | | == Disease == |
| - | [[http://www.uniprot.org/uniprot/PCCA_HUMAN PCCA_HUMAN]] Defects in PCCA are the cause of propionic acidemia type I (PA-1) [MIM:[http://omim.org/entry/606054 606054]]. PA-1 is a life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.<ref>PMID:10101253</ref> <ref>PMID:12559849</ref> <ref>PMID:15059621</ref> <ref>PMID:10329019</ref> | + | [https://www.uniprot.org/uniprot/PCCA_HUMAN PCCA_HUMAN] Defects in PCCA are the cause of propionic acidemia type I (PA-1) [MIM:[https://omim.org/entry/606054 606054]. PA-1 is a life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.<ref>PMID:10101253</ref> <ref>PMID:12559849</ref> <ref>PMID:15059621</ref> <ref>PMID:10329019</ref> |
| | + | == Function == |
| | + | [https://www.uniprot.org/uniprot/PCCA_HUMAN PCCA_HUMAN] |
| | == Evolutionary Conservation == | | == Evolutionary Conservation == |
| | [[Image:Consurf_key_small.gif|200px|right]] | | [[Image:Consurf_key_small.gif|200px|right]] |
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| | __TOC__ | | __TOC__ |
| | </StructureSection> | | </StructureSection> |
| - | [[Category: Human]] | + | [[Category: Homo sapiens]] |
| - | [[Category: Propionyl-CoA carboxylase]] | + | [[Category: Large Structures]] |
| - | [[Category: Hayashi, F]] | + | [[Category: Hayashi F]] |
| - | [[Category: Structural genomic]]
| + | [[Category: Suetake T]] |
| - | [[Category: Suetake, T]] | + | [[Category: Yokoyama S]] |
| - | [[Category: Yokoyama, S]] | + | |
| - | [[Category: B domain]]
| + | |
| - | [[Category: Ligase]]
| + | |
| - | [[Category: National project on protein structural and functional analyse]]
| + | |
| - | [[Category: Nppsfa]]
| + | |
| - | [[Category: Pcca]]
| + | |
| - | [[Category: Rsgi]]
| + | |
| Structural highlights
Disease
PCCA_HUMAN Defects in PCCA are the cause of propionic acidemia type I (PA-1) [MIM:606054. PA-1 is a life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.[1] [2] [3] [4]
Function
PCCA_HUMAN
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
References
- ↑ Richard E, Desviat LR, Perez B, Perez-Cerda C, Ugarte M. Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein. Biochim Biophys Acta. 1999 Mar 30;1453(3):351-8. PMID:10101253
- ↑ Perez B, Desviat LR, Rodriguez-Pombo P, Clavero S, Navarrete R, Perez-Cerda C, Ugarte M. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. Mol Genet Metab. 2003 Jan;78(1):59-67. PMID:12559849
- ↑ Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T. Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. Mol Genet Metab. 2004 Apr;81(4):335-42. PMID:15059621 doi:10.1016/j.ymgme.2004.01.003
- ↑ Campeau E, Dupuis L, Leon-Del-Rio A, Gravel R. Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia. Mol Genet Metab. 1999 May;67(1):11-22. PMID:10329019 doi:10.1006/mgme.1999.2850
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