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==Crystal structure of CYP2R1 in complex with vitamin D2==
==Crystal structure of CYP2R1 in complex with vitamin D2==
<StructureSection load='3czh' size='340' side='right' caption='[[3czh]], [[Resolution|resolution]] 2.30&Aring;' scene=''>
<StructureSection load='3czh' size='340' side='right'caption='[[3czh]], [[Resolution|resolution]] 2.30&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[3czh]] is a 2 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=3CZH OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3CZH FirstGlance]. <br>
<table><tr><td colspan='2'>[[3czh]] is a 2 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=3CZH OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3CZH FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=BCD:BETA-CYCLODEXTRIN'>BCD</scene>, <scene name='pdbligand=D2V:(3S,5Z,7E,22E)-9,10-SECOERGOSTA-5,7,10,22-TETRAEN-3-OL'>D2V</scene>, <scene name='pdbligand=HEM:PROTOPORPHYRIN+IX+CONTAINING+FE'>HEM</scene>, <scene name='pdbligand=UNX:UNKNOWN+ATOM+OR+ION'>UNX</scene></td></tr>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.3&#8491;</td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CYP2R1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=D2V:(3S,5Z,7E,22E)-9,10-SECOERGOSTA-5,7,10,22-TETRAEN-3-OL'>D2V</scene>, <scene name='pdbligand=GLC:ALPHA-D-GLUCOSE'>GLC</scene>, <scene name='pdbligand=HEM:PROTOPORPHYRIN+IX+CONTAINING+FE'>HEM</scene>, <scene name='pdbligand=PRD_900012:beta-cyclodextrin'>PRD_900012</scene></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=3czh FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3czh OCA], [http://pdbe.org/3czh PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=3czh RCSB], [http://www.ebi.ac.uk/pdbsum/3czh PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=3czh ProSAT]</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=3czh FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3czh OCA], [https://pdbe.org/3czh PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3czh RCSB], [https://www.ebi.ac.uk/pdbsum/3czh PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3czh ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/CP2R1_HUMAN CP2R1_HUMAN]] Defects in CYP2R1 are the cause of rickets vitamin D-dependent type 1B (VDDR1B) [MIM:[http://omim.org/entry/600081 600081]]; also known as pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency. A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activityand low levels of 25-hydroxyvitamin D.<ref>PMID:15128933</ref>
[https://www.uniprot.org/uniprot/CP2R1_HUMAN CP2R1_HUMAN] Defects in CYP2R1 are the cause of rickets vitamin D-dependent type 1B (VDDR1B) [MIM:[https://omim.org/entry/600081 600081]; also known as pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency. A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activityand low levels of 25-hydroxyvitamin D.<ref>PMID:15128933</ref>  
== Function ==
== Function ==
[[http://www.uniprot.org/uniprot/CP2R1_HUMAN CP2R1_HUMAN]] Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).<ref>PMID:12867411</ref> <ref>PMID:15465040</ref> <ref>PMID:18511070</ref>
[https://www.uniprot.org/uniprot/CP2R1_HUMAN CP2R1_HUMAN] Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).<ref>PMID:12867411</ref> <ref>PMID:15465040</ref> <ref>PMID:18511070</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/cz/3czh_consurf.spt"</scriptWhenChecked>
     <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/cz/3czh_consurf.spt"</scriptWhenChecked>
     <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
     <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview03.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/main_output.php?pdb_ID=3czh 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=3czh ConSurf].
<div style="clear:both"></div>
<div style="clear:both"></div>
==See Also==
*[[Cytochrome P450 3D structures|Cytochrome P450 3D structures]]
== References ==
== References ==
<references/>
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Arrowsmith, C H]]
[[Category: Large Structures]]
[[Category: Bochkarev, A]]
[[Category: Arrowsmith CH]]
[[Category: Bountra, C]]
[[Category: Bochkarev A]]
[[Category: Edwards, A M]]
[[Category: Bountra C]]
[[Category: Gilep, A A]]
[[Category: Edwards AM]]
[[Category: Loppnau, P]]
[[Category: Gilep AA]]
[[Category: Park, H]]
[[Category: Loppnau P]]
[[Category: Structural genomic]]
[[Category: Park H]]
[[Category: Strushkevich, N V]]
[[Category: Strushkevich NV]]
[[Category: Tempel, W]]
[[Category: Tempel W]]
[[Category: Wilkstrom, M]]
[[Category: Wilkstrom M]]
[[Category: Cytochrome p450]]
[[Category: Disease mutation]]
[[Category: Drug metabolism]]
[[Category: Endoplasmic reticulum]]
[[Category: Heme]]
[[Category: Iron]]
[[Category: Membrane]]
[[Category: Metal-binding]]
[[Category: Microsome]]
[[Category: Monooxygenase]]
[[Category: Oxidoreductase]]
[[Category: Sgc]]
[[Category: Vitamin d]]
[[Category: Vitamin s 25-hydroxylase]]