1yjv

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[[Image:1yjv.gif|left|200px]]
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{{Seed}}
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[[Image:1yjv.png|left|200px]]
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{{STRUCTURE_1yjv| PDB=1yjv | SCENE= }}
{{STRUCTURE_1yjv| PDB=1yjv | SCENE= }}
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'''Solution structure of the Cu(I) form of the sixth soluble domain of Menkes protein'''
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===Solution structure of the Cu(I) form of the sixth soluble domain of Menkes protein===
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==Overview==
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Menkes disease is a fatal disease that can be induced by various mutations in the ATP7A gene, leading to unpaired uptake of dietary copper. The ATP7A gene encodes a copper(I)-translocating ATPase. Here the disease-causing A629P mutation, which occurs in the last of the six copper(I)-binding soluble domains of the ATPase (hereafter MNK6), was investigated. To understand why this apparently minor amino acid replacement is pathogenic, the solution structures and dynamics on various time-scales of wild-type and A629P-MNK6 were determined both in the apo- and copper(I)-loaded forms. The interaction in vitro with the physiological ATP7A copper(I)-donor (HAH1) was additionally studied. The A629P mutation makes the protein beta-sheet more solvent accessible, possibly resulting in an enhanced susceptibility of ATP7A to proteolytic cleavage and/or in reduced capability of copper(I)-translocation. A small reduction of the affinity for copper(I) is also observed. Both effects could concur to pathogenicity.
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The line below this paragraph, {{ABSTRACT_PUBMED_16083905}}, adds the Publication Abstract to the page
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(as it appears on PubMed at http://www.pubmed.gov), where 16083905 is the PubMed ID number.
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{{ABSTRACT_PUBMED_16083905}}
==Disease==
==Disease==
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==About this Structure==
==About this Structure==
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1YJV is a [[Single protein]] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1YJV OCA].
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1YJV is a [[Single protein]] structure of 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=1YJV OCA].
==Reference==
==Reference==
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[[Category: Metallochaperone]]
[[Category: Metallochaperone]]
[[Category: Protein-protein interaction]]
[[Category: Protein-protein interaction]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sat May 3 16:24:50 2008''
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sun Jul 27 19:09:27 2008''

Revision as of 16:09, 27 July 2008

Image:1yjv.png

Template:STRUCTURE 1yjv

Contents

Solution structure of the Cu(I) form of the sixth soluble domain of Menkes protein

Template:ABSTRACT PUBMED 16083905

Disease

Known disease associated with this structure: Cutis laxa, neonatal OMIM:[300011], Menkes disease OMIM:[300011], Occipital horn syndrome OMIM:[300011]

About this Structure

1YJV is a Single protein structure of sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

An atomic-level investigation of the disease-causing A629P mutant of the Menkes protein, ATP7A., Banci L, Bertini I, Cantini F, Migliardi M, Rosato A, Wang S, J Mol Biol. 2005 Sep 16;352(2):409-17. PMID:16083905

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