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| | ==Crystal structure of human SMAD1-MAN1 complex.== | | ==Crystal structure of human SMAD1-MAN1 complex.== |
| - | <StructureSection load='5zok' size='340' side='right' caption='[[5zok]], [[Resolution|resolution]] 2.85Å' scene=''> | + | <StructureSection load='5zok' size='340' side='right'caption='[[5zok]], [[Resolution|resolution]] 2.85Å' scene=''> |
| | == Structural highlights == | | == Structural highlights == |
| - | <table><tr><td colspan='2'>[[5zok]] is a 4 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5ZOK OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5ZOK FirstGlance]. <br> | + | <table><tr><td colspan='2'>[[5zok]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5ZOK OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=5ZOK FirstGlance]. <br> |
| - | </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=5zok FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5zok OCA], [http://pdbe.org/5zok PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5zok RCSB], [http://www.ebi.ac.uk/pdbsum/5zok PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5zok ProSAT]</span></td></tr> | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.85Å</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=5zok FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5zok OCA], [https://pdbe.org/5zok PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=5zok RCSB], [https://www.ebi.ac.uk/pdbsum/5zok PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=5zok ProSAT]</span></td></tr> |
| | </table> | | </table> |
| | == Disease == | | == Disease == |
| - | [[http://www.uniprot.org/uniprot/SMAD1_HUMAN SMAD1_HUMAN]] Defects in SMAD1 may be a cause of primary pulmonary hypertension (PPH1) [MIM:[http://omim.org/entry/178600 178600]]. A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial PPH1 is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.<ref>PMID:21898662</ref> [[http://www.uniprot.org/uniprot/MAN1_HUMAN MAN1_HUMAN]] Isolated osteopoikilosis;Buschke-Ollendorff syndrome;12q14 microdeletion syndrome;Melorheostosis with osteopoikilosis. The disease is caused by mutations affecting the gene represented in this entry. | + | [https://www.uniprot.org/uniprot/MAN1_HUMAN MAN1_HUMAN] Isolated osteopoikilosis;Buschke-Ollendorff syndrome;12q14 microdeletion syndrome;Melorheostosis with osteopoikilosis. The disease is caused by mutations affecting the gene represented in this entry. |
| | == Function == | | == Function == |
| - | [[http://www.uniprot.org/uniprot/SMAD1_HUMAN SMAD1_HUMAN]] Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1.<ref>PMID:12097147</ref> [[http://www.uniprot.org/uniprot/MAN1_HUMAN MAN1_HUMAN]] Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.<ref>PMID:15601644</ref> <ref>PMID:15647271</ref> | + | [https://www.uniprot.org/uniprot/MAN1_HUMAN MAN1_HUMAN] Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.<ref>PMID:15601644</ref> <ref>PMID:15647271</ref> |
| | == References == | | == References == |
| | <references/> | | <references/> |
| | __TOC__ | | __TOC__ |
| | </StructureSection> | | </StructureSection> |
| - | [[Category: Ito, T]] | + | [[Category: Homo sapiens]] |
| - | [[Category: Miyazono, K]] | + | [[Category: Large Structures]] |
| - | [[Category: Tanokura, M]] | + | [[Category: Ito T]] |
| - | [[Category: Complex]] | + | [[Category: Miyazono K]] |
| - | [[Category: Dna binding protein]] | + | [[Category: Tanokura M]] |
| - | [[Category: Tgf-beta signaling]]
| + | |
| - | [[Category: Transcription]]
| + | |
| Structural highlights
Disease
MAN1_HUMAN Isolated osteopoikilosis;Buschke-Ollendorff syndrome;12q14 microdeletion syndrome;Melorheostosis with osteopoikilosis. The disease is caused by mutations affecting the gene represented in this entry.
Function
MAN1_HUMAN Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.[1] [2]
References
- ↑ Lin F, Morrison JM, Wu W, Worman HJ. MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. Hum Mol Genet. 2005 Feb 1;14(3):437-45. doi: 10.1093/hmg/ddi040. Epub 2004 Dec, 15. PMID:15601644 doi:http://dx.doi.org/10.1093/hmg/ddi040
- ↑ Pan D, Estevez-Salmeron LD, Stroschein SL, Zhu X, He J, Zhou S, Luo K. The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-{beta} superfamily of cytokines. J Biol Chem. 2005 Apr 22;280(16):15992-6001. doi: 10.1074/jbc.M411234200. Epub, 2005 Jan 12. PMID:15647271 doi:http://dx.doi.org/10.1074/jbc.M411234200
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