1jei
From Proteopedia
(New page: 200px<br /> <applet load="1jei" size="450" color="white" frame="true" align="right" spinBox="true" caption="1jei" /> '''LEM DOMAIN OF HUMAN INNER NUCLEAR MEMBRANE ...) |
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'''LEM DOMAIN OF HUMAN INNER NUCLEAR MEMBRANE PROTEIN EMERIN'''<br /> | '''LEM DOMAIN OF HUMAN INNER NUCLEAR MEMBRANE PROTEIN EMERIN'''<br /> | ||
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==About this Structure== | ==About this Structure== | ||
- | 1JEI is a [http://en.wikipedia.org/wiki/Single_protein Single protein] structure of sequence from [http://en.wikipedia.org/wiki/ ]. Full crystallographic information is available from [http:// | + | 1JEI is a [http://en.wikipedia.org/wiki/Single_protein Single protein] structure of sequence from [http://en.wikipedia.org/wiki/ ]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1JEI OCA]. |
==Reference== | ==Reference== | ||
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[[Category: emerin nucleus membrane domain dystrophy]] | [[Category: emerin nucleus membrane domain dystrophy]] | ||
- | ''Page seeded by [http:// | + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Fri Feb 15 16:06:57 2008'' |
Revision as of 14:06, 15 February 2008
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LEM DOMAIN OF HUMAN INNER NUCLEAR MEMBRANE PROTEIN EMERIN
Contents |
Overview
Like Duchenne and Becker muscular dystrophies, Emery-Dreifuss muscular, dystrophy (EDMD) is characterized by myopathic and cardiomyopathic, abnormalities. EDMD has the particularity of being linked to mutations in, nuclear proteins. The X-linked form of EDMD is caused by mutations in the, emerin gene, whereas autosomal dominant EDMD is caused by mutations in the, lamin A/C gene. Emerin colocalizes with lamin A/C in interphase cells, and, binds in vitro to lamin A/C. Recent work suggests that lamin A/C might, serve as a receptor for emerin. We have undertaken a structural analysis, of emerin, and in particular of its N-terminal domain, which is comprised, in the emerin segment critical for binding to lamin A/C. We show that, region 2-54 of emerin adopts the LEM fold. This fold was originally, described in the two N-terminal domains of another inner nuclear membrane, protein called lamina-associated protein 2 (LAP2). The existence of a, conserved solvent-exposed surface on the LEM domains of LAP2 and emerin is, discussed, as well as the nature of a possible common target.
Disease
Known diseases associated with this structure: Emery-Dreifuss muscular dystrophy OMIM:[300384]
About this Structure
1JEI is a Single protein structure of sequence from [1]. Full crystallographic information is available from OCA.
Reference
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy., Wolff N, Gilquin B, Courchay K, Callebaut I, Worman HJ, Zinn-Justin S, FEBS Lett. 2001 Jul 20;501(2-3):171-6. PMID:11470279
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