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==Human carbonic anhydrase II in complex with bicarbonate==
==Human carbonic anhydrase II in complex with bicarbonate==
<StructureSection load='2vvb' size='340' side='right' caption='[[2vvb]], [[Resolution|resolution]] 1.66&Aring;' scene=''>
<StructureSection load='2vvb' size='340' side='right'caption='[[2vvb]], [[Resolution|resolution]] 1.66&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2vvb]] 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=2VVB OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2VVB FirstGlance]. <br>
<table><tr><td colspan='2'>[[2vvb]] 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=2VVB OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2VVB FirstGlance]. <br>
</td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=BCT:BICARBONATE+ION'>BCT</scene>, <scene name='pdbligand=CO2:CARBON+DIOXIDE'>CO2</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene>, <scene name='pdbligand=ZN:ZINC+ION'>ZN</scene><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]] 1.66&#8491;</td></tr>
<tr><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1okl|1okl]], [[1i9q|1i9q]], [[1zfq|1zfq]], [[1if7|1if7]], [[1cam|1cam]], [[1t9n|1t9n]], [[1cnw|1cnw]], [[1okn|1okn]], [[1f2w|1f2w]], [[1g52|1g52]], [[2h4n|2h4n]], [[1bnm|1bnm]], [[1bnq|1bnq]], [[1cnh|1cnh]], [[1xev|1xev]], [[1ugc|1ugc]], [[1ugg|1ugg]], [[1if9|1if9]], [[1g53|1g53]], [[1fqm|1fqm]], [[1ca2|1ca2]], [[1fql|1fql]], [[1cal|1cal]], [[1i9n|1i9n]], [[1g4o|1g4o]], [[2cba|2cba]], [[1ydc|1ydc]], [[1lzv|1lzv]], [[1ccs|1ccs]], [[1bnv|1bnv]], [[1fqr|1fqr]], [[1rzb|1rzb]], [[1a42|1a42]], [[1th9|1th9]], [[1zsb|1zsb]], [[1cnb|1cnb]], [[1i8z|1i8z]], [[1hed|1hed]], [[1g48|1g48]], [[1lg5|1lg5]], [[1bv3|1bv3]], [[1g0f|1g0f]], [[1ugd|1ugd]], [[1tg3|1tg3]], [[1cvc|1cvc]], [[1yo0|1yo0]], [[1i90|1i90]], [[1hva|1hva]], [[1fsn|1fsn]], [[1ugb|1ugb]], [[1rze|1rze]], [[1z9y|1z9y]], [[2fmz|2fmz]], [[1cnk|1cnk]], [[1bn1|1bn1]], [[1teq|1teq]], [[1rza|1rza]], [[1ccu|1ccu]], [[1i9l|1i9l]], [[2cbc|2cbc]], [[1cvb|1cvb]], [[1g46|1g46]], [[1cao|1cao]], [[1fsq|1fsq]], [[6ca2|6ca2]], [[5ca2|5ca2]], [[1caj|1caj]], [[1g1d|1g1d]], [[2fou|2fou]], [[1cvf|1cvf]], [[1lgd|1lgd]], [[1if6|1if6]], [[1bn4|1bn4]], [[1teu|1teu]], [[1cra|1cra]], [[1ze8|1ze8]], [[1if4|1if4]], [[1hea|1hea]], [[1hca|1hca]], [[1cah|1cah]], [[1g4j|1g4j]], [[1raz|1raz]], [[1kwq|1kwq]], [[1cim|1cim]], [[1cvh|1cvh]], [[1cin|1cin]], [[1if8|1if8]], [[1i9m|1i9m]], [[1zfk|1zfk]], [[1zsa|1zsa]], [[1fqn|1fqn]], [[1lg6|1lg6]], [[1cnc|1cnc]], [[1uga|1uga]], [[1bnn|1bnn]], [[2foq|2foq]], [[1tb0|1tb0]], [[1cai|1cai]], [[2ax2|2ax2]], [[1dcb|1dcb]], [[1cnx|1cnx]], [[4cac|4cac]], [[5cac|5cac]], [[2hd6|2hd6]], [[1ttm|1ttm]], [[1cak|1cak]], [[1i9o|1i9o]], [[1cni|1cni]], [[1can|1can]], [[2eu3|2eu3]], [[1yda|1yda]], [[1yo2|1yo2]], [[1eou|1eou]], [[1mua|1mua]], [[2ca2|2ca2]], [[1cct|1cct]], [[2abe|2abe]], [[1oq5|1oq5]], [[1ugf|1ugf]], [[1rzc|1rzc]], [[1thk|1thk]], [[2cbe|2cbe]], [[1kwr|1kwr]], [[1zgf|1zgf]], [[1cay|1cay]], [[1cng|1cng]], [[1moo|1moo]], [[2ez7|2ez7]], [[1hec|1hec]], [[9ca2|9ca2]], [[8ca2|8ca2]], [[1fr7|1fr7]], [[1zh9|1zh9]], [[1ydd|1ydd]], [[1bic|1bic]], [[1lug|1lug]], [[1caz|1caz]], [[7ca2|7ca2]], [[1cvd|1cvd]], [[1fr4|1fr4]], [[4ca2|4ca2]], [[2geh|2geh]], [[1cil|1cil]], [[1g45|1g45]], [[1ydb|1ydb]], [[2cbb|2cbb]], [[1fsr|1fsr]], [[1dca|1dca]], [[1avn|1avn]], [[12ca|12ca]], [[1i9p|1i9p]], [[1bcd|1bcd]], [[1am6|1am6]], [[1i91|1i91]], [[1cve|1cve]], [[1g3z|1g3z]], [[1heb|1heb]], [[2cbd|2cbd]], [[1zsc|1zsc]], [[3ca2|3ca2]], [[1bnu|1bnu]], [[1zge|1zge]], [[1bnw|1bnw]], [[2fov|2fov]], [[1te3|1te3]], [[1bnt|1bnt]], [[1if5|1if5]], [[1yo1|1yo1]], [[1g54|1g54]], [[1rzd|1rzd]], [[1uge|1uge]], [[2fmg|2fmg]], [[1g0e|1g0e]], [[1ray|1ray]], [[1cva|1cva]], [[1ca3|1ca3]], [[2eu2|2eu2]], [[1tg9|1tg9]], [[1tbt|1tbt]], [[1xeg|1xeg]], [[1bn3|1bn3]], [[1cny|1cny]], [[1okm|1okm]], [[1cnj|1cnj]], [[1h9n|1h9n]], [[2aw1|2aw1]], [[1h4n|1h4n]], [[2fos|2fos]], [[1h9q|1h9q]], [[2vva|2vva]]</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=BCT:BICARBONATE+ION'>BCT</scene>, <scene name='pdbligand=CO2:CARBON+DIOXIDE'>CO2</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene>, <scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr>
<tr><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Carbonate_dehydratase Carbonate dehydratase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.2.1.1 4.2.1.1] </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=2vvb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2vvb OCA], [https://pdbe.org/2vvb PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2vvb RCSB], [https://www.ebi.ac.uk/pdbsum/2vvb PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2vvb ProSAT]</span></td></tr>
<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2vvb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2vvb OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2vvb RCSB], [http://www.ebi.ac.uk/pdbsum/2vvb PDBsum]</span></td></tr>
</table>
<table>
== Disease ==
== Disease ==
[[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>
[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 ==
== Function ==
[[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>
[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 ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
Check<jmol>
Check<jmol>
   <jmolCheckbox>
   <jmolCheckbox>
     <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/vv/2vvb_consurf.spt"</scriptWhenChecked>
     <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/vv/2vvb_consurf.spt"</scriptWhenChecked>
     <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
     <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
     <text>to colour the structure by Evolutionary Conservation</text>
     <text>to colour the structure by Evolutionary Conservation</text>
   </jmolCheckbox>
   </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/chain_selection.php?pdb_ID=2ata ConSurf].
</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=2vvb ConSurf].
<div style="clear:both"></div>
<div style="clear:both"></div>
<div style="background-color:#fffaf0;">
<div style="background-color:#fffaf0;">
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From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
</div>
</div>
<div class="pdbe-citations 2vvb" style="background-color:#fffaf0;"></div>


==See Also==
==See Also==
*[[Carbonic anhydrase|Carbonic anhydrase]]
*[[Carbonic anhydrase 3D structures|Carbonic anhydrase 3D structures]]
== References ==
== References ==
<references/>
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Carbonate dehydratase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Djinovic-Carugo, K.]]
[[Category: Large Structures]]
[[Category: Polentarutti, M.]]
[[Category: Djinovic-Carugo K]]
[[Category: Sjoeblom, B.]]
[[Category: Polentarutti M]]
[[Category: Bicarbonate]]
[[Category: Sjoeblom B]]
[[Category: Carbonic anhydrase]]
[[Category: Disease mutation]]
[[Category: Lyase]]
[[Category: Metal-binding]]
[[Category: Substrate binding]]

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