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2djn
From Proteopedia
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{{STRUCTURE_2djn| PDB=2djn | SCENE= }} | {{STRUCTURE_2djn| PDB=2djn | SCENE= }} | ||
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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=== | ||
| + | ==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> | ||
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| + | ==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> | ||
==About this Structure== | ==About this Structure== | ||
[[2djn]] is a 1 chain structure with sequence from [http://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]. | [[2djn]] is a 1 chain structure with sequence from [http://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]. | ||
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| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Inoue, M.]] | [[Category: Inoue, M.]] | ||
Revision as of 02:31, 25 March 2013
Contents |
The solution structure of the homeobox domain of human Homeobox protein DLX-5
Disease
[DLX5_HUMAN] Defects in DLX5 are the cause of split-hand/foot malformation type 1, with sensorineural hearing loss (SHFM1D) [MIM: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.[1]
Function
[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.[2]
About this Structure
2djn is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
Reference
- ↑ Shamseldin HE, Faden MA, Alashram W, Alkuraya FS. Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. J Med Genet. 2012 Jan;49(1):16-20. doi: 10.1136/jmedgenet-2011-100556. Epub 2011 , Nov 25. PMID:22121204 doi:10.1136/jmedgenet-2011-100556
- ↑ Xu J, Testa JR. DLX5 (distal-less homeobox 5) promotes tumor cell proliferation by transcriptionally regulating MYC. J Biol Chem. 2009 Jul 31;284(31):20593-601. doi: 10.1074/jbc.M109.021477. Epub, 2009 Jun 4. PMID:19497851 doi:10.1074/jbc.M109.021477
Categories: Homo sapiens | Inoue, M. | Kigawa, T. | Koshiba, S. | Ohnishi, S. | RSGI, RIKEN Structural Genomics/Proteomics Initiative. | Saito, K. | Sasagawa, A. | Tochio, N. | Yokoyama, S. | Dlx5 | Homeobox | National project on protein structural and functional analyse | Nppsfa | Riken structural genomics/proteomics initiative | Rsgi | Structural genomic | Transcription
