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{{STRUCTURE_3cyu|  PDB=3cyu  |  SCENE=  }}
===Human Carbonic Anhydrase II complexed with Cryptophane biosensor and xenon===
{{ABSTRACT_PUBMED_18461940}}


==Disease==
==Human Carbonic Anhydrase II complexed with Cryptophane biosensor and xenon==
[[http://www.uniprot.org/uniprot/CAH2_HUMAN CAH2_HUMAN]] Defects in CA2 are the cause of osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:[http://omim.org/entry/259730 259730]]; also known as osteopetrosis with renal tubular acidosis, carbonic anhydrase II deficiency syndrome, Guibaud-Vainsel syndrome or marble brain disease. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Autosomal recessive osteopetrosis is usually associated with normal or elevated amount of non-functional osteoclasts. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with mental retardation.<ref>PMID:1928091</ref> <ref>PMID:1542674</ref> <ref>PMID:8834238</ref> <ref>PMID:9143915</ref> <ref>PMID:15300855</ref>
<StructureSection load='3cyu' size='340' side='right'caption='[[3cyu]], [[Resolution|resolution]] 1.70&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[3cyu]] 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=3CYU OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3CYU FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.7&#8491;</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=0CR:MOMO-2-[4-(2-(4-(METHOXY)-1H-1,2,3-TRIAZOL-1-YL)ETHYL)BENZENESULFONAMIDE]-7,12-BIS-[3-(4-(METHOXY)-1H-1,2,3-TRIAZOL-1-YL)PROPANOIC+ACID]-CRYPTOPHANE-A'>0CR</scene>, <scene name='pdbligand=1CR:POPO-2-[4-(2-(4-(METHOXY)-1H-1,2,3-TRIAZOL-1-YL)ETHYL)BENZENESULFONAMIDE]-7,12-BIS-[3-(4-(METHOXY)-1H-1,2,3-TRIAZOL-1-YL)PROPANOIC+ACID]-CRYPTOPHANE-A'>1CR</scene>, <scene name='pdbligand=XE:XENON'>XE</scene>, <scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></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=3cyu FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3cyu OCA], [https://pdbe.org/3cyu PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3cyu RCSB], [https://www.ebi.ac.uk/pdbsum/3cyu PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3cyu ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/CAH2_HUMAN CAH2_HUMAN] Defects in CA2 are the cause of osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:[https://omim.org/entry/259730 259730]; also known as osteopetrosis with renal tubular acidosis, carbonic anhydrase II deficiency syndrome, Guibaud-Vainsel syndrome or marble brain disease. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Autosomal recessive osteopetrosis is usually associated with normal or elevated amount of non-functional osteoclasts. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with mental retardation.<ref>PMID:1928091</ref> <ref>PMID:1542674</ref> <ref>PMID:8834238</ref> <ref>PMID:9143915</ref> <ref>PMID:15300855</ref>  
== Function ==
[https://www.uniprot.org/uniprot/CAH2_HUMAN CAH2_HUMAN] Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye.<ref>PMID:10550681</ref> <ref>PMID:11831900</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/cy/3cyu_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=3cyu ConSurf].
<div style="clear:both"></div>
<div style="background-color:#fffaf0;">
== Publication Abstract from PubMed ==
Cryptophanes represent an exciting class of xenon-encapsulating molecules that can be exploited as probes for nuclear magnetic resonance imaging. The 1.70 A resolution crystal structure of a cryptophane-derivatized benezenesulfonamide complexed with human carbonic anhydrase II shows how an encapsulated xenon atom can be directed to a specific biological target. The crystal structure confirms binding measurements indicating that the cryptophane cage does not strongly interact with the surface of the protein, which may enhance the sensitivity of 129Xe NMR spectroscopic measurements in solution.


==Function==
Structure of a 129Xe-cryptophane biosensor complexed with human carbonic anhydrase II.,Aaron JA, Chambers JM, Jude KM, Di Costanzo L, Dmochowski IJ, Christianson DW J Am Chem Soc. 2008 Jun 4;130(22):6942-3. Epub 2008 May 8. PMID:18461940<ref>PMID:18461940</ref>
[[http://www.uniprot.org/uniprot/CAH2_HUMAN CAH2_HUMAN]] Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye.<ref>PMID:10550681</ref> <ref>PMID:11831900</ref>


==About this Structure==
From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
[[3cyu]] 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=3CYU OCA].
</div>
<div class="pdbe-citations 3cyu" style="background-color:#fffaf0;"></div>


==See Also==
==See Also==
*[[Carbonic anhydrase|Carbonic anhydrase]]
*[[Carbonic anhydrase 3D structures|Carbonic anhydrase 3D structures]]
 
== References ==
==Reference==
<references/>
<ref group="xtra">PMID:018461940</ref><references group="xtra"/><references/>
__TOC__
[[Category: Carbonate dehydratase]]
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Aaron, J A.]]
[[Category: Large Structures]]
[[Category: Christianson, D W.]]
[[Category: Aaron JA]]
[[Category: Costanzo, L Di.]]
[[Category: Christianson DW]]
[[Category: Jude, K M.]]
[[Category: Di Costanzo L]]
[[Category: Biosensor]]
[[Category: Jude KM]]
[[Category: Cryptophane]]
[[Category: Disease mutation]]
[[Category: Lyase]]
[[Category: Metal-binding]]
[[Category: Sulfonamide]]
[[Category: Xenon]]
[[Category: Zinc metalloenzyme]]

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