3k7j

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[[Image:3k7j.jpg|left|200px]]
 
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==Crystal structure of the D100E mutant of the Indian Hedgehog N-terminal signalling domain==
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The line below this paragraph, containing "STRUCTURE_3k7j", creates the "Structure Box" on the page.
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<StructureSection load='3k7j' size='340' side='right'caption='[[3k7j]], [[Resolution|resolution]] 1.90&Aring;' scene=''>
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== Structural highlights ==
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or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
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<table><tr><td colspan='2'>[[3k7j]] 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=3K7J OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3K7J FirstGlance]. <br>
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.9&#8491;</td></tr>
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CO3:CARBONATE+ION'>CO3</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene>, <scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr>
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{{STRUCTURE_3k7j| PDB=3k7j | SCENE= }}
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3k7j FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3k7j OCA], [https://pdbe.org/3k7j PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3k7j RCSB], [https://www.ebi.ac.uk/pdbsum/3k7j PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3k7j ProSAT]</span></td></tr>
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</table>
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===Crystal structure of the D100E mutant of the Indian Hedgehog N-terminal signalling domain===
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== Disease ==
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[https://www.uniprot.org/uniprot/IHH_HUMAN IHH_HUMAN] Brachydactyly type A1;Acrocapitofemoral dysplasia. Defects in IHH are the cause of brachydactyly type A1 (BDA1) [MIM:[https://omim.org/entry/112500 112500]. BDA1 is an autosomal dominant disorder characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short.<ref>PMID:11455389</ref> <ref>PMID:12384778</ref> Defects in IHH are a cause of acrocapitofemoral dysplasia (ACFD) [MIM:[https://omim.org/entry/607778 607778]. ACFD is a disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses were also present to a variable extent at the shoulders, knees, and ankles.<ref>PMID:12632327</ref>
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== Function ==
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==About this Structure==
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[https://www.uniprot.org/uniprot/IHH_HUMAN IHH_HUMAN] Intercellular signal essential for a variety of patterning events during development. Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. Implicated in endochondral ossification: may regulate the balance between growth and ossification of the developing bones. Induces the expression of parathyroid hormone-related protein (PTHRP) (By similarity).
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[[3k7j]] 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=3K7J OCA].
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: He, Y X.]]
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[[Category: Large Structures]]
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[[Category: Kang, Y.]]
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[[Category: He Y-X]]
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[[Category: Ma, G.]]
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[[Category: Kang Y]]
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[[Category: Yu, J.]]
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[[Category: Ma G]]
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[[Category: Zhang, W J.]]
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[[Category: Yu J]]
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[[Category: Zhou, C Z.]]
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[[Category: Zhang WJ]]
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[[Category: Zhou C-Z]]

Current revision

Crystal structure of the D100E mutant of the Indian Hedgehog N-terminal signalling domain

PDB ID 3k7j

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