1yjt
From Proteopedia
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| - | [[Image:1yjt.gif|left|200px]]< | + | [[Image:1yjt.gif|left|200px]] |
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| - | '''Solution structure of the Cu(I) form of the sixth soluble domain A69P mutant of Menkes protein''' | + | {{Structure |
| + | |PDB= 1yjt |SIZE=350|CAPTION= <scene name='initialview01'>1yjt</scene> | ||
| + | |SITE= | ||
| + | |LIGAND= <scene name='pdbligand=CU1:COPPER (I) ION'>CU1</scene> | ||
| + | |ACTIVITY= [http://en.wikipedia.org/wiki/Copper-exporting_ATPase Copper-exporting ATPase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.6.3.4 3.6.3.4] | ||
| + | |GENE= ATP7A ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens]) | ||
| + | }} | ||
| + | |||
| + | '''Solution structure of the Cu(I) form of the sixth soluble domain A69P mutant of Menkes protein''' | ||
| + | |||
==Overview== | ==Overview== | ||
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==About this Structure== | ==About this Structure== | ||
| - | 1YJT is a [ | + | 1YJT 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=1YJT OCA]. |
==Reference== | ==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:[http:// | + | 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:[http://www.ncbi.nlm.nih.gov/pubmed/16083905 16083905] |
[[Category: Copper-exporting ATPase]] | [[Category: Copper-exporting ATPase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
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[[Category: protein-protein interaction]] | [[Category: protein-protein interaction]] | ||
| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu | + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Mar 20 15:23:48 2008'' |
Revision as of 13:23, 20 March 2008
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| Ligands: | |||||||
| Gene: | ATP7A (Homo sapiens) | ||||||
| Activity: | Copper-exporting ATPase, with EC number 3.6.3.4 | ||||||
| Coordinates: | save as pdb, mmCIF, xml | ||||||
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 diseases associated with this structure: Analgesia from kappa-opioid receptor agonist, female-specific , OMIM:[155555], Cutis laxa, neonatal OMIM:[300011], Melanoma susceptibility to OMIM:[155555], Menkes disease OMIM:[300011], Occipital horn syndrome OMIM:[300011], Oculocutaneous albinism, type II, modifier of OMIM:[155555], Skin/hair/eye pigmentation 2, blond hair/fair skin OMIM:[155555], Skin/hair/eye pigmentation 2, red hair/fair skin OMIM:[155555], UV-induced skin damage OMIM:[155555]
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
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