3k7j

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==Crystal structure of the D100E mutant of the Indian Hedgehog N-terminal signalling domain==
==Crystal structure of the D100E mutant of the Indian Hedgehog N-terminal signalling domain==
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<StructureSection load='3k7j' size='340' side='right' caption='[[3k7j]], [[Resolution|resolution]] 1.90&Aring;' scene=''>
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<StructureSection load='3k7j' size='340' side='right'caption='[[3k7j]], [[Resolution|resolution]] 1.90&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>[[3k7j]] is a 1 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=3K7J OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3K7J FirstGlance]. <br>
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<table><tr><td colspan='2'>[[3k7j]] 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=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='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><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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</td></tr><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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<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[3k7g|3k7g]], [[3k7h|3k7h]], [[3k7i|3k7i]]</td></tr>
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<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[3k7g|3k7g]], [[3k7h|3k7h]], [[3k7i|3k7i]]</div></td></tr>
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<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">IHH ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">IHH ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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<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=3k7j FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3k7j OCA], [http://pdbe.org/3k7j PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=3k7j RCSB], [http://www.ebi.ac.uk/pdbsum/3k7j PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=3k7j ProSAT]</span></td></tr>
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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>
</table>
</table>
== Disease ==
== Disease ==
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[[http://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:[http://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:[http://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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[[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>
== Function ==
== Function ==
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[[http://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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[[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).
== References ==
== References ==
<references/>
<references/>
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</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Human]]
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[[Category: Large Structures]]
[[Category: He, Y X]]
[[Category: He, Y X]]
[[Category: Kang, Y]]
[[Category: Kang, Y]]

Revision as of 13:34, 4 May 2022

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

PDB ID 3k7j

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