2cqy: Difference between revisions

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[[Image:2cqy.png|left|200px]]


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==Solution structure of B domain from human propionyl-CoA carboxylase alpha subunit==
The line below this paragraph, containing "STRUCTURE_2cqy", creates the "Structure Box" on the page.
<StructureSection load='2cqy' size='340' side='right'caption='[[2cqy]]' scene=''>
You may change the PDB parameter (which sets the PDB file loaded into the applet)
== Structural highlights ==
or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
<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>
or leave the SCENE parameter empty for the default display.
</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='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>
{{STRUCTURE_2cqy|  PDB=2cqy  |  SCENE=  }}
</table>
 
== Disease ==
===Solution structure of B domain from human propionyl-CoA carboxylase alpha subunit===
[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]
==Disease==
== Evolutionary Conservation ==
Known disease associated with this structure: Propionicacidemia OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000 232000]]
[[Image:Consurf_key_small.gif|200px|right]]
 
Check<jmol>
==About this Structure==
  <jmolCheckbox>
2CQY is a [[Single protein]] structure of sequence from [http://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].  
    <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/cq/2cqy_consurf.spt"</scriptWhenChecked>
    <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
    <text>to colour the structure by Evolutionary Conservation</text>
  </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/main_output.php?pdb_ID=2cqy ConSurf].
<div style="clear:both"></div>
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Propionyl-CoA carboxylase]]
[[Category: Large Structures]]
[[Category: Single protein]]
[[Category: Hayashi F]]
[[Category: Hayashi, F.]]
[[Category: Suetake T]]
[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
[[Category: Yokoyama S]]
[[Category: Suetake, T.]]
[[Category: Yokoyama, S.]]
[[Category: B domain]]
[[Category: National project on protein structural and functional analyse]]
[[Category: Nppsfa]]
[[Category: Pcca]]
[[Category: Riken structural genomics/proteomics initiative]]
[[Category: Rsgi]]
[[Category: Structural genomic]]
 
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sun Sep 28 21:06:46 2008''

Latest revision as of 14:29, 22 May 2024

Solution structure of B domain from human propionyl-CoA carboxylase alpha subunitSolution structure of B domain from human propionyl-CoA carboxylase alpha subunit

Structural highlights

2cqy is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:Solution NMR
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT, TOPSAN

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

  1. ↑ 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
  2. ↑ 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
  3. ↑ 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
  4. ↑ 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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