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1jei

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[[Image:1jei.jpg|left|200px]]<br /><applet load="1jei" size="350" color="white" frame="true" align="right" spinBox="true"
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[[Image:1jei.jpg|left|200px]]
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caption="1jei" />
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'''LEM DOMAIN OF HUMAN INNER NUCLEAR MEMBRANE PROTEIN EMERIN'''<br />
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{{Structure
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|PDB= 1jei |SIZE=350|CAPTION= <scene name='initialview01'>1jei</scene>
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|SITE=
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|LIGAND=
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|ACTIVITY=
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|GENE=
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}}
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'''LEM DOMAIN OF HUMAN INNER NUCLEAR MEMBRANE PROTEIN EMERIN'''
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==Overview==
==Overview==
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==About this Structure==
==About this Structure==
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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].
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1JEI is a [[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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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:[http://ispc.weizmann.ac.il//pmbin/getpm?pmid=11470279 11470279]
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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:[http://www.ncbi.nlm.nih.gov/pubmed/11470279 11470279]
[[Category: Single protein]]
[[Category: Single protein]]
[[Category: Callebaut, I.]]
[[Category: Callebaut, I.]]
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[[Category: emerin nucleus membrane domain dystrophy]]
[[Category: emerin nucleus membrane domain dystrophy]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Feb 21 13:21:45 2008''
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Mar 20 12:02:19 2008''

Revision as of 10:02, 20 March 2008


PDB ID 1jei

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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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