1YJV
Solution structure of the Cu(I) form of the sixth soluble domain of Menkes protein
Summary for 1YJV
| Entry DOI | 10.2210/pdb1yjv/pdb |
| Related | 1YJR 1YJT 1YJU |
| NMR Information | BMRB: 6480 |
| Descriptor | Copper-transporting ATPase 1, COPPER (I) ION (2 entities in total) |
| Functional Keywords | metallochaperone, protein-protein interaction, copper(i), metal homeostasis, hydrolase |
| Biological source | Homo sapiens (human) |
| Cellular location | Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Isoform 3: Cytoplasm, cytosol (Probable). Isoform 5: Endoplasmic reticulum: Q04656 |
| Total number of polymer chains | 1 |
| Total formula weight | 8255.14 |
| Authors | Banci, L.,Bertini, I.,Cantini, F.,Migliardi, M.,Rosato, A.,Wang, S. (deposition date: 2005-01-15, release date: 2006-01-03, Last modification date: 2024-05-29) |
| Primary citation | Banci, L.,Bertini, I.,Cantini, F.,Migliardi, M.,Rosato, A.,Wang, S. An atomic-level investigation of the disease-causing A629P mutant of the Menkes protein, ATP7A J.Mol.Biol., 352:409-417, 2005 Cited by PubMed Abstract: 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. PubMed: 16083905DOI: 10.1016/j.jmb.2005.07.034 PDB entries with the same primary citation |
| Experimental method | SOLUTION NMR |
Structure validation
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