1mjs: Difference between revisions
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{{STRUCTURE_1mjs| PDB=1mjs | SCENE= }} | {{STRUCTURE_1mjs| PDB=1mjs | SCENE= }} | ||
===MH2 domain of transcriptional factor SMAD3=== | |||
{{ABSTRACT_PUBMED_12154125}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/SMAD3_HUMAN SMAD3_HUMAN]] Defects in SMAD3 may be a cause of colorectal cancer (CRC) [MIM:[http://omim.org/entry/114500 114500]]. Defects in SMAD3 are the cause of Loeys-Dietz syndrome 3 (LDS3) [MIM:[http://omim.org/entry/613795 613795]]. An aortic aneurysm syndrome with widespread systemic involvement. The disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Patients with LDS3 also manifest early-onset osteoarthritis. They lack craniosynostosis and mental retardation. Note=SMAD3 mutations have been reported to be also associated with thoracic aortic aneurysms and dissection (TAAD) (PubMed:21778426). This phenotype is distinguised from LDS3 by having aneurysms restricted to thoracic aorta. As individuals carrying these mutations also exhibit aneurysms of other arteries, including abdominal aorta, iliac, and/or intracranial arteries (PubMed:21778426), they have been classified as LDS3 by the OMIM resource.<ref>PMID:21778426</ref><ref>PMID:21217753</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/SMAD3_HUMAN SMAD3_HUMAN]] Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures (By similarity). Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.<ref>PMID:9732876</ref><ref>PMID:9892009</ref><ref>PMID:10995748</ref><ref>PMID:15241418</ref><ref>PMID:15588252</ref><ref>PMID:16156666</ref><ref>PMID:16751101</ref><ref>PMID:17327236</ref><ref>PMID:16862174</ref><ref>PMID:19289081</ref><ref>PMID:19218245</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:012154125</ref><references group="xtra"/> | <ref group="xtra">PMID:012154125</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Correia, J J.]] | [[Category: Correia, J J.]] | ||