2p39: Difference between revisions

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<StructureSection load='2p39' size='340' side='right'caption='[[2p39]], [[Resolution|resolution]] 1.50&Aring;' scene=''>
<StructureSection load='2p39' size='340' side='right'caption='[[2p39]], [[Resolution|resolution]] 1.50&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2p39]] 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=2P39 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2P39 FirstGlance]. <br>
<table><tr><td colspan='2'>[[2p39]] 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=2P39 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2P39 FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=GU4:2,3,4,6-TETRA-O-SULFONATO-ALPHA-D-GLUCOPYRANOSE'>GU4</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]] 1.5&#8491;</td></tr>
<tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=YYJ:'>YYJ</scene></td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=GU4:2,3,4,6-TETRA-O-SULFONATO-ALPHA-D-GLUCOPYRANOSE'>GU4</scene>, <scene name='pdbligand=PRD_900013:sucrose+octasulfate'>PRD_900013</scene>, <scene name='pdbligand=YYJ:1,3,4,6-tetra-O-sulfo-beta-D-fructofuranose'>YYJ</scene></td></tr>
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[2p23|2p23]]</div></td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">FGF23, HYPF ([https://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'>[https://proteopedia.org/fgij/fg.htm?mol=2p39 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2p39 OCA], [https://pdbe.org/2p39 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2p39 RCSB], [https://www.ebi.ac.uk/pdbsum/2p39 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2p39 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=2p39 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2p39 OCA], [https://pdbe.org/2p39 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2p39 RCSB], [https://www.ebi.ac.uk/pdbsum/2p39 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2p39 ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[https://www.uniprot.org/uniprot/FGF23_HUMAN FGF23_HUMAN]] Defects in FGF23 are the cause of autosomal dominant hypophosphataemic rickets (ADHR) [MIM:[https://omim.org/entry/193100 193100]]. ADHR is characterized by low serum phosphorus concentrations, rickets, osteomalacia, leg deformities, short stature, bone pain and dental abscesses.<ref>PMID:11062477</ref> <ref>PMID:11409890</ref> <ref>PMID:16638743</ref>  Defects in FGF23 are a cause of hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:[https://omim.org/entry/211900 211900]]. HFTC is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues.<ref>PMID:15590700</ref>
[https://www.uniprot.org/uniprot/FGF23_HUMAN FGF23_HUMAN] Defects in FGF23 are the cause of autosomal dominant hypophosphataemic rickets (ADHR) [MIM:[https://omim.org/entry/193100 193100]. ADHR is characterized by low serum phosphorus concentrations, rickets, osteomalacia, leg deformities, short stature, bone pain and dental abscesses.<ref>PMID:11062477</ref> <ref>PMID:11409890</ref> <ref>PMID:16638743</ref>  Defects in FGF23 are a cause of hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:[https://omim.org/entry/211900 211900]. HFTC is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues.<ref>PMID:15590700</ref>  
== Function ==
== Function ==
[[https://www.uniprot.org/uniprot/FGF23_HUMAN FGF23_HUMAN]] Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization.<ref>PMID:11062477</ref> <ref>PMID:11409890</ref> <ref>PMID:15040831</ref> <ref>PMID:16597617</ref> <ref>PMID:18282132</ref>
[https://www.uniprot.org/uniprot/FGF23_HUMAN FGF23_HUMAN] Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization.<ref>PMID:11062477</ref> <ref>PMID:11409890</ref> <ref>PMID:15040831</ref> <ref>PMID:16597617</ref> <ref>PMID:18282132</ref>  
== 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: Mohammadi, M]]
[[Category: Mohammadi M]]
[[Category: Atypical beta-trefoil fold]]
[[Category: Signaling protein]]