3fjo: Difference between revisions

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<StructureSection load='3fjo' size='340' side='right'caption='[[3fjo]], [[Resolution|resolution]] 2.50&Aring;' scene=''>
<StructureSection load='3fjo' size='340' side='right'caption='[[3fjo]], [[Resolution|resolution]] 2.50&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[3fjo]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3FJO OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3FJO FirstGlance]. <br>
<table><tr><td colspan='2'>[[3fjo]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens] and [https://en.wikipedia.org/wiki/Saccharomyces_cerevisiae Saccharomyces cerevisiae]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3FJO OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3FJO FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=FAD:FLAVIN-ADENINE+DINUCLEOTIDE'>FAD</scene>, <scene name='pdbligand=FMN:FLAVIN+MONONUCLEOTIDE'>FMN</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]] 2.5&#8491;</td></tr>
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[1amo|1amo]], [[2bf4|2bf4]]</div></td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=FAD:FLAVIN-ADENINE+DINUCLEOTIDE'>FAD</scene>, <scene name='pdbligand=FMN:FLAVIN+MONONUCLEOTIDE'>FMN</scene></td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">NCP1, POR ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[https://en.wikipedia.org/wiki/NADPH--hemoprotein_reductase NADPH--hemoprotein reductase], with EC number [https://www.brenda-enzymes.info/php/result_flat.php4?ecno=1.6.2.4 1.6.2.4] </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=3fjo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3fjo OCA], [https://pdbe.org/3fjo PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3fjo RCSB], [https://www.ebi.ac.uk/pdbsum/3fjo PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3fjo 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=3fjo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3fjo OCA], [https://pdbe.org/3fjo PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3fjo RCSB], [https://www.ebi.ac.uk/pdbsum/3fjo PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3fjo ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/NCPR_HUMAN NCPR_HUMAN] Defects in POR are the cause of Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1) [MIM:[https://omim.org/entry/201750 201750]. A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures.<ref>PMID:15264278</ref> <ref>PMID:15483095</ref> <ref>PMID:14758361</ref>  Defects in POR are the cause of disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:[https://omim.org/entry/613571 613571]. A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome.<ref>PMID:14758361</ref> <ref>PMID:15220035</ref>
== Function ==
== Function ==
[[https://www.uniprot.org/uniprot/NCPR_YEAST NCPR_YEAST]] This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5. Involved in ergosterol biosynthesis. Has NADPH-dependent ferrireductase activity on the plasma membrane.<ref>PMID:1730736</ref> <ref>PMID:9368374</ref> <ref>PMID:9468503</ref> <ref>PMID:11485306</ref>
[https://www.uniprot.org/uniprot/NCPR_YEAST NCPR_YEAST] This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5. Involved in ergosterol biosynthesis. Has NADPH-dependent ferrireductase activity on the plasma membrane.<ref>PMID:1730736</ref> <ref>PMID:9368374</ref> <ref>PMID:9468503</ref> <ref>PMID:11485306</ref> [https://www.uniprot.org/uniprot/NCPR_HUMAN NCPR_HUMAN] This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5.
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: NADPH--hemoprotein reductase]]
[[Category: Saccharomyces cerevisiae]]
[[Category: Aigrain, L]]
[[Category: Aigrain L]]
[[Category: Morera, S]]
[[Category: Morera S]]
[[Category: Truan, G]]
[[Category: Truan G]]
[[Category: Congenital adrenal hyperplasia]]
[[Category: Disease mutation]]
[[Category: Endoplasmic reticulum]]
[[Category: Flavoprotein]]
[[Category: Fmn and fad domains of cpr]]
[[Category: Membrane]]
[[Category: Nadp]]
[[Category: Oxidoreductase]]
[[Category: Phosphoprotein]]
[[Category: Transmembrane]]

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