2djn
From Proteopedia
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==The solution structure of the homeobox domain of human Homeobox protein DLX-5== | ==The solution structure of the homeobox domain of human Homeobox protein DLX-5== | ||
| - | <StructureSection load='2djn' size='340' side='right'caption='[[2djn | + | <StructureSection load='2djn' size='340' side='right'caption='[[2djn]]' scene=''> |
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[2djn]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/ | + | <table><tr><td colspan='2'>[[2djn]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2DJN OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2DJN FirstGlance]. <br> |
| - | </td></tr><tr id=' | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</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=2djn FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2djn OCA], [https://pdbe.org/2djn PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2djn RCSB], [https://www.ebi.ac.uk/pdbsum/2djn PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2djn ProSAT], [https://www.topsan.org/Proteins/RSGI/2djn TOPSAN]</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=2djn FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2djn OCA], [https://pdbe.org/2djn PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2djn RCSB], [https://www.ebi.ac.uk/pdbsum/2djn PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2djn ProSAT], [https://www.topsan.org/Proteins/RSGI/2djn TOPSAN]</span></td></tr> | ||
</table> | </table> | ||
== Disease == | == Disease == | ||
| - | + | [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 == | ||
| - | + | [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> | |
== 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: | + | [[Category: Homo sapiens]] |
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
| - | [[Category: Inoue | + | [[Category: Inoue M]] |
| - | [[Category: Kigawa | + | [[Category: Kigawa T]] |
| - | [[Category: Koshiba | + | [[Category: Koshiba S]] |
| - | [[Category: Ohnishi | + | [[Category: Ohnishi S]] |
| - | + | [[Category: Saito K]] | |
| - | [[Category: Saito | + | [[Category: Sasagawa A]] |
| - | [[Category: Sasagawa | + | [[Category: Tochio N]] |
| - | [[Category: Tochio | + | [[Category: Yokoyama S]] |
| - | [[Category: Yokoyama | + | |
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Current revision
The solution structure of the homeobox domain of human Homeobox protein DLX-5
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Categories: Homo sapiens | Large Structures | Inoue M | Kigawa T | Koshiba S | Ohnishi S | Saito K | Sasagawa A | Tochio N | Yokoyama S
