1yjt
From Proteopedia
| Line 1: | Line 1: | ||
[[Image:1yjt.gif|left|200px]] | [[Image:1yjt.gif|left|200px]] | ||
| - | + | <!-- | |
| - | + | The line below this paragraph, containing "STRUCTURE_1yjt", creates the "Structure Box" on the page. | |
| - | + | You may change the PDB parameter (which sets the PDB file loaded into the applet) | |
| - | + | or the SCENE parameter (which sets the initial scene displayed when the page is loaded), | |
| - | + | or leave the SCENE parameter empty for the default display. | |
| - | + | --> | |
| - | + | {{STRUCTURE_1yjt| PDB=1yjt | SCENE= }} | |
| - | + | ||
| - | + | ||
| - | }} | + | |
'''Solution structure of the Cu(I) form of the sixth soluble domain A69P mutant of Menkes protein''' | '''Solution structure of the Cu(I) form of the sixth soluble domain A69P mutant of Menkes protein''' | ||
| Line 35: | Line 32: | ||
[[Category: Rosato, A.]] | [[Category: Rosato, A.]] | ||
[[Category: Wang, S.]] | [[Category: Wang, S.]] | ||
| - | [[Category: | + | [[Category: Metal homeostasis]] |
| - | + | [[Category: Metallochaperone]] | |
| - | [[Category: | + | [[Category: Protein-protein interaction]] |
| - | [[Category: | + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sat May 3 16:24:46 2008'' |
| - | + | ||
| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on | + | |
Revision as of 13:24, 3 May 2008
Solution structure of the Cu(I) form of the sixth soluble domain A69P mutant of Menkes protein
Contents |
Overview
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.
Disease
Known disease associated with this structure: Cutis laxa, neonatal OMIM:[300011], Menkes disease OMIM:[300011], Occipital horn syndrome OMIM:[300011]
About this Structure
1YJT is a Single protein structure of sequence from Homo sapiens. Full crystallographic 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 Page seeded by OCA on Sat May 3 16:24:46 2008
