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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]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
<StructureSection load='2djn' size='340' side='right'caption='[[2djn]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2djn]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. 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 [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DJN FirstGlance]. <br>
<table><tr><td colspan='2'>[[2djn]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. 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='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">DLX5 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">DLX5 ([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'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2djn FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2djn OCA], [http://pdbe.org/2djn PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2djn RCSB], [http://www.ebi.ac.uk/pdbsum/2djn PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2djn ProSAT], [http://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 ==
[[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>   
[[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 ==
[[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>   
[[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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</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Human]]
[[Category: Large Structures]]
[[Category: Inoue, M]]
[[Category: Inoue, M]]
[[Category: Kigawa, T]]
[[Category: Kigawa, T]]

Revision as of 12:04, 3 February 2021

The solution structure of the homeobox domain of human Homeobox protein DLX-5

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