1yjt
From Proteopedia
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|PDB= 1yjt |SIZE=350|CAPTION= <scene name='initialview01'>1yjt</scene> | |PDB= 1yjt |SIZE=350|CAPTION= <scene name='initialview01'>1yjt</scene> | ||
|SITE= | |SITE= | ||
| - | |LIGAND= <scene name='pdbligand=CU1:COPPER (I) ION'>CU1</scene> | + | |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] | + | |ACTIVITY= <span class='plainlinks'>[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] </span> |
|GENE= ATP7A ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens]) | |GENE= ATP7A ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens]) | ||
| + | |DOMAIN= | ||
| + | |RELATEDENTRY=[[1yjr|1YJR]], [[1yju|1YJU]], [[1yjv|1YJV]] | ||
| + | |RESOURCES=<span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1yjt FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1yjt OCA], [http://www.ebi.ac.uk/pdbsum/1yjt PDBsum], [http://www.rcsb.org/pdb/explore.do?structureId=1yjt RCSB]</span> | ||
}} | }} | ||
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==Disease== | ==Disease== | ||
| - | Known | + | Known disease associated with this structure: Cutis laxa, neonatal OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011 300011]], Menkes disease OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011 300011]], Occipital horn syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011 300011]] |
==About this Structure== | ==About this Structure== | ||
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[[Category: Rosato, A.]] | [[Category: Rosato, A.]] | ||
[[Category: Wang, S.]] | [[Category: Wang, S.]] | ||
| - | [[Category: CU1]] | ||
[[Category: copper(i)]] | [[Category: copper(i)]] | ||
[[Category: metal homeostasis]] | [[Category: metal homeostasis]] | ||
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[[Category: protein-protein interaction]] | [[Category: protein-protein interaction]] | ||
| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on | + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Mon Mar 31 01:10:04 2008'' |
Revision as of 22:10, 30 March 2008
| |||||||
| Ligands: | |||||||
| Gene: | ATP7A (Homo sapiens) | ||||||
| Activity: | Copper-exporting ATPase, with EC number 3.6.3.4 | ||||||
| Related: | 1YJR, 1YJU, 1YJV
| ||||||
| Resources: | FirstGlance, OCA, PDBsum, RCSB | ||||||
| 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 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
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