2p1f: Difference between revisions

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{{STRUCTURE_2p1f|  PDB=2p1f  |  SCENE=  }}
==Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)==
===Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)===
<StructureSection load='2p1f' size='340' side='right' caption='[[2p1f]], [[Resolution|resolution]] 1.76&Aring;' scene=''>
 
== Structural highlights ==
==Disease==
<table><tr><td colspan='2'>[[2p1f]] 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=2P1F OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2P1F FirstGlance]. <br>
[[http://www.uniprot.org/uniprot/PYR5_HUMAN PYR5_HUMAN]] Defects in UMPS are the cause of orotic aciduria type 1 (ORAC1) [MIM:[http://omim.org/entry/258900 258900]]. A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies.<ref>PMID:9042911</ref>  
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=NA:SODIUM+ION'>NA</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
 
<tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=CSX:S-OXY+CYSTEINE'>CSX</scene></td></tr>
==About this Structure==
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2eaw|2eaw]]</td></tr>
[[2p1f]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2P1F OCA].  
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">UMPS ([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'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2p1f FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2p1f OCA], [http://pdbe.org/2p1f PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2p1f RCSB], [http://www.ebi.ac.uk/pdbsum/2p1f PDBsum]</span></td></tr>
</table>
== Disease ==
[[http://www.uniprot.org/uniprot/UMPS_HUMAN UMPS_HUMAN]] Defects in UMPS are the cause of orotic aciduria type 1 (ORAC1) [MIM:[http://omim.org/entry/258900 258900]]. A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies.<ref>PMID:9042911</ref>
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
Check<jmol>
  <jmolCheckbox>
    <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/p1/2p1f_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=2p1f ConSurf].
<div style="clear:both"></div>


==See Also==
==See Also==
*[[Uridine 5'-monophosphate synthase|Uridine 5'-monophosphate synthase]]
*[[Uridine 5'-monophosphate synthase|Uridine 5'-monophosphate synthase]]
 
== References ==
==Reference==
<references/>
<references group="xtra"/><references/>
__TOC__
[[Category: Homo sapiens]]
</StructureSection>
[[Category: Liu, Y.]]
[[Category: Human]]
[[Category: Pai, E F.]]
[[Category: Liu, Y]]
[[Category: Tang, H L.]]
[[Category: Pai, E F]]
[[Category: Tang, H L]]
[[Category: C-terminal domain]]
[[Category: C-terminal domain]]
[[Category: Human]]
[[Category: Hydrolase]]
[[Category: Hydrolase]]
[[Category: Orotidine 5'-monophosphate decarboxylase]]
[[Category: Orotidine 5'-monophosphate decarboxylase]]
[[Category: Ump synthase]]
[[Category: Ump synthase]]

Latest revision as of 14:51, 9 February 2016

Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)

Structural highlights

2p1f is a 1 chain structure with sequence from Human. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:, ,
NonStd Res:
Gene:UMPS (HUMAN)
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum

Disease

[UMPS_HUMAN] Defects in UMPS are the cause of orotic aciduria type 1 (ORAC1) [MIM:258900]. A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies.[1]

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

See Also

References

  1. ↑ Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y. Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. Am J Hum Genet. 1997 Mar;60(3):525-39. PMID:9042911

2p1f, resolution 1.76Å

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