4rdu

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==Crystal structure of a distal-less homeobox protein 5 (Dlx5) from Homo sapiens at 1.85 A resolution==
==Crystal structure of a distal-less homeobox protein 5 (Dlx5) from Homo sapiens at 1.85 A resolution==
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<StructureSection load='4rdu' size='340' side='right' caption='[[4rdu]], [[Resolution|resolution]] 1.85&Aring;' scene=''>
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<StructureSection load='4rdu' size='340' side='right'caption='[[4rdu]], [[Resolution|resolution]] 1.85&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>[[4rdu]] is a 6 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=4RDU OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4RDU FirstGlance]. <br>
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<table><tr><td colspan='2'>[[4rdu]] is a 6 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens] and [https://en.wikipedia.org/wiki/Synthetic_construct Synthetic construct]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4RDU OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4RDU FirstGlance]. <br>
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</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">BC006226, DLX5 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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</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=4rdu FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4rdu OCA], [https://pdbe.org/4rdu PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4rdu RCSB], [https://www.ebi.ac.uk/pdbsum/4rdu PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4rdu ProSAT]</span></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=4rdu FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4rdu OCA], [http://pdbe.org/4rdu PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4rdu RCSB], [http://www.ebi.ac.uk/pdbsum/4rdu PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4rdu ProSAT]</span></td></tr>
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</table>
</table>
== Disease ==
== Disease ==
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[[http://www.uniprot.org/uniprot/DLX5_HUMAN DLX5_HUMAN]] Defects in DLX5 are the cause of split-hand/foot malformation type 1, with sensorineural hearing loss (SHFM1D) [MIM:[http://omim.org/entry/220600 220600]]. A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.<ref>PMID:22121204</ref>
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[https://www.uniprot.org/uniprot/DLX5_HUMAN DLX5_HUMAN] Defects in DLX5 are the cause of split-hand/foot malformation type 1, with sensorineural hearing loss (SHFM1D) [MIM:[https://omim.org/entry/220600 220600]. A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.<ref>PMID:22121204</ref>
== Function ==
== Function ==
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[[http://www.uniprot.org/uniprot/DLX5_HUMAN DLX5_HUMAN]] Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3' consensus sequence for DNA-binding.<ref>PMID:19497851</ref>
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[https://www.uniprot.org/uniprot/DLX5_HUMAN DLX5_HUMAN] Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3' consensus sequence for DNA-binding.<ref>PMID:19497851</ref>
== References ==
== References ==
<references/>
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
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[[Category: Human]]
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[[Category: Homo sapiens]]
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[[Category: Structural genomic]]
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[[Category: Large Structures]]
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[[Category: STEMCELL, Partnership for Stem Cell Biology]]
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[[Category: Synthetic construct]]
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[[Category: Jcsg]]
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[[Category: Partnership for stem cell biology]]
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[[Category: Pf00046 family]]
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[[Category: PSI, Protein structure initiative]]
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[[Category: Psi-biology]]
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[[Category: Stemcell]]
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[[Category: Transcription]]
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[[Category: Transcription-dna complex]]
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Revision as of 12:00, 1 February 2023

Crystal structure of a distal-less homeobox protein 5 (Dlx5) from Homo sapiens at 1.85 A resolution

PDB ID 4rdu

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