ATP7A

Summary

Gene Symbol: ATP7A
Description: ATPase copper transporting alpha
Alias: DSMAX, MNK, SMAX3, copper-transporting ATPase 1, ATPase, Cu++ transporting, alpha polypeptide, Cu++-transporting P-type ATPase, Menkes disease-associated protein, copper pump 1
Species: human
Products:     ATP7A

Top Publications

  1. Poulsen L, Horn N, Heilstrup H, Lund C, Tumer Z, Møller L. X-linked recessive Menkes disease: identification of partial gene deletions in affected males. Clin Genet. 2002;62:449-57 pubmed
    Menkes disease is an X-linked recessive lethal disorder of copper metabolism, caused by defects in the ATP7A gene. Partial gene deletions comprise about 15% of the mutations causing Menkes disease...
  2. Steinberg F, Gallon M, Winfield M, Thomas E, Bell A, Heesom K, et al. A global analysis of SNX27-retromer assembly and cargo specificity reveals a function in glucose and metal ion transport. Nat Cell Biol. 2013;15:461-71 pubmed publisher
    ..many of which interact with SNX27, including the glucose transporter GLUT1, the Menkes disease copper transporter ATP7A, various zinc and amino acid transporters, and numerous signalling receptors, require SNX27-retromer to prevent ..
  3. Cobbold C, Coventry J, Ponnambalam S, Monaco A. The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway. Hum Mol Genet. 2003;12:1523-33 pubmed
    The Menkes disease gene encodes a P-type transmembrane ATPase (ATP7A) that translocates cytosolic copper ions across intracellular membranes of compartments along the secretory pathway...
  4. Materia S, Cater M, Klomp L, Mercer J, La Fontaine S. Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B. J Biol Chem. 2012;287:2485-99 pubmed publisher
    b>ATP7A and ATP7B are copper-transporting P(1B)-type ATPases (Cu-ATPases) that are critical for regulating intracellular copper homeostasis...
  5. Skjørringe T, Tumer Z, Møller L. Splice site mutations in the ATP7A gene. PLoS ONE. 2011;6:e18599 pubmed publisher
    Menkes disease (MD) is caused by mutations in the ATP7A gene. We describe 33 novel splice site mutations detected in patients with MD or the milder phenotypic form, Occipital Horn Syndrome...
  6. Kaler S. ATP7A-related copper transport diseases-emerging concepts and future trends. Nat Rev Neurol. 2011;7:15-29 pubmed publisher
    This Review summarizes recent advances in understanding copper-transporting ATPase 1 (ATP7A), and examines the neurological phenotypes associated with dysfunction of this protein...
  7. Singleton W, McInnes K, Cater M, Winnall W, McKirdy R, Yu Y, et al. Role of glutaredoxin1 and glutathione in regulating the activity of the copper-transporting P-type ATPases, ATP7A and ATP7B. J Biol Chem. 2010;285:27111-21 pubmed publisher
    The copper-transporting P-type ATPases (Cu-ATPases), ATP7A and ATP7B, are essential for the regulation of intracellular copper homeostasis...
  8. Kim B, Smith K, Meagher C, Petris M. A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation. J Biol Chem. 2002;277:44079-84 pubmed
    ..disease, an X-linked copper deficiency disorder caused by mutations in the copper transporting P-type ATPase, MNK. MNK is located in the trans-Golgi network where it transports copper to secreted cuproenzymes...
  9. Francis M, Jones E, Levy E, Ponnambalam S, Chelly J, Monaco A. A Golgi localization signal identified in the Menkes recombinant protein. Hum Mol Genet. 1998;7:1245-52 pubmed
    ..The gene responsible for the phenotype has been identified as a copper transporting ATPase ( ATP7A ). Recently, the protein encoded by the ATP7A gene has been localized to the Golgi complex...

More Information

Publications76

  1. De Bie P, Muller P, Wijmenga C, Klomp L. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet. 2007;44:673-88 pubmed
    ..Central regulators of cellular copper metabolism are the copper-transporting P-type ATPases ATP7A and ATP7B...
  2. Nyasae L, Bustos R, Braiterman L, Eipper B, Hubbard A. Dynamics of endogenous ATP7A (Menkes protein) in intestinal epithelial cells: copper-dependent redistribution between two intracellular sites. Am J Physiol Gastrointest Liver Physiol. 2007;292:G1181-94 pubmed
    We report for the first time on the copper-dependent behavior of endogenous ATP7A in two types of polarized intestinal epithelia, rat enterocytes in vivo and filter-grown Caco-2 cells, an accepted in vitro model of human small intestine...
  3. Reddy M, Majumdar S, Harris E. Evidence for a Menkes-like protein with a nuclear targeting sequence. Biochem J. 2000;350 Pt 3:855-63 pubmed
    ..of the present study codes for a 103-residue protein containing the first heavy-metal-binding domain (Hmb1) of ATP7A, the Cu-ATPase associated with Menkes disease...
  4. Hamza I, Schaefer M, Klomp L, Gitlin J. Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis. Proc Natl Acad Sci U S A. 1999;96:13363-8 pubmed
    ..Taken together, these data provide a mechanism for the function of HAH1 as a copper chaperone in mammalian cells and demonstrate that this protein is essential for copper homeostasis. ..
  5. La Fontaine S, Mercer J. Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis. Arch Biochem Biophys. 2007;463:149-67 pubmed
    ..The copper-transporting P-type ATPases, ATP7A and ATP7B are key molecules required for the regulation and maintenance of mammalian copper homeostasis...
  6. Tumer Z, Birk Møller L, Horn N. Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. Hum Mutat. 2003;22:457-64 pubmed
    ..MD results from mutations in the ATP7A gene, which encodes a membrane-bound copper transporting P-type ATPase located in the trans-Golgi network...
  7. Lane C, Petris M, Benmerah A, Greenough M, Camakaris J. Studies on endocytic mechanisms of the Menkes copper-translocating P-type ATPase (ATP7A; MNK). Endocytosis of the Menkes protein. Biometals. 2004;17:87-98 pubmed
    The human X-linked recessive copper deficiency disorder, Menkes disease, is caused by mutations in the ATP7A (MNK) gene, which encodes a transmembrane copper-transporting P-type ATPase (MNK)...
  8. Møller L, Bukrinsky J, Mølgaard A, Paulsen M, Lund C, Tumer Z, et al. Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. Hum Mutat. 2005;26:84-93 pubmed
    b>ATP7A encodes a copper-translocating ATPase that belongs to the large family of P-type ATPases. Eight conserved regions define the core of the P-type ATPase superfamily...
  9. Paulsen M, Lund C, Akram Z, Winther J, Horn N, Møller L. Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites. Am J Hum Genet. 2006;79:214-29 pubmed
    Menkes disease (MD) is an X-linked recessive disorder of copper metabolism. It is caused by mutations in the ATP7A gene encoding a copper-translocating P-type ATPase, which contains six N-terminal copper-binding sites (CBS1-CBS6)...
  10. Donsante A, Tang J, Godwin S, Holmes C, Goldstein D, Bassuk A, et al. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. J Med Genet. 2007;44:492-7 pubmed
    ..We report two unrelated families featuring affected members with unusually disparate clinical and biochemical phenotypes and explore the underlying molecular mechanisms...
  11. Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J. Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet. 1994;55:883-9 pubmed
    Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection...
  12. Kennerson M, Nicholson G, Kaler S, Kowalski B, Mercer J, Tang J, et al. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet. 2010;86:343-52 pubmed publisher
    ..1-q21 in two large unrelated families. The region of genetic linkage included ATP7A, which encodes a copper-transporting P-type ATPase mutated in patients with Menkes disease, a severe infantile-..
  13. Yi L, Donsante A, Kennerson M, Mercer J, Garbern J, Kaler S. Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy. Hum Mol Genet. 2012;21:1794-807 pubmed publisher
    b>ATP7A is a P-type ATPase that regulates cellular copper homeostasis by activity at the trans-Golgi network (TGN) and plasma membrane (PM), with the location normally governed by intracellular copper concentration...
  14. Yi L, KALER S. ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A. Ann N Y Acad Sci. 2014;1314:49-54 pubmed publisher
    Diverse mutations in the gene encoding the copper transporter ATP7A lead to X-linked recessive Menkes disease or occipital horn syndrome...
  15. Poulsen L, Horn N, Møller L. X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion. Clin Genet. 2002;62:440-8 pubmed
    X-linked recessive Menkes disease is a lethal disorder of copper metabolism, caused by defects in the ATP7A gene. About 15% of the mutations causing Menkes disease are partial gene deletions...
  16. Gu Y, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, et al. ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. Am J Med Genet. 2001;99:217-22 pubmed
    ..males with Menkes disease and 2 Japanese males with occipital horn syndrome were studied for mutations in the ATP7A gene...
  17. Petris M, Strausak D, Mercer J. The Menkes copper transporter is required for the activation of tyrosinase. Hum Mol Genet. 2000;9:2845-51 pubmed
    Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A (MNK) gene...
  18. Tumer Z, Lund C, Tolshave J, Vural B, Tønnesen T, Horn N. Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am J Hum Genet. 1997;60:63-71 pubmed
    ..patients affected with the classical severe form of Menkes disease was investigated for point mutations in the ATP7A gene (previously designated as the "MNK" gene)...
  19. Ambrosini L, Mercer J. Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. Hum Mol Genet. 1999;8:1547-55 pubmed
    ..The Menkes gene product (MNK) is a P-type ATPase and is considered to be the main copper efflux protein in most cells...
  20. Petris M, Mercer J, Culvenor J, Lockhart P, Gleeson P, Camakaris J. Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking. EMBO J. 1996;15:6084-95 pubmed
    The Menkes P-type ATPase (MNK), encoded by the Menkes gene (MNK; ATP7A), is a transmembrane copper-translocating pump which is defective in the human disorder of copper metabolism, Menkes disease...
  21. Kaler S, Gallo L, Proud V, Percy A, Mark Y, Segal N, et al. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet. 1994;8:195-202 pubmed
    We have found mutations in the Menkes disease gene (MNK) which impair, but do not abolish, correct mRNA splicing in patients with less severe clinical phenotypes...
  22. Kaler S, Buist N, Holmes C, Goldstein D, Miller R, Gahl W. Early copper therapy in classic Menkes disease patients with a novel splicing mutation. Ann Neurol. 1995;38:921-8 pubmed
  23. Tumer Z. An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. Hum Mutat. 2013;34:417-29 pubmed publisher
    ..MD occurs because of mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions...
  24. Yamaguchi Y, Heiny M, Suzuki M, Gitlin J. Biochemical characterization and intracellular localization of the Menkes disease protein. Proc Natl Acad Sci U S A. 1996;93:14030-5 pubmed
  25. Ronce N, Moizard M, Robb L, Toutain A, Villard L, Moraine C. A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. Am J Hum Genet. 1997;61:233-8 pubmed
  26. Qi M, Byers P. Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome. Hum Mol Genet. 1998;7:465-9 pubmed
    The ATP7A gene encodes a copper-transporting ATPase. Mutations in this gene result in two clinically distinct X-linked inherited disorders: Menkes disease and occipital horn syndrome (OHS)...
  27. Setty S, Tenza D, Sviderskaya E, Bennett D, Raposo G, Marks M. Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes. Nature. 2008;454:1142-6 pubmed publisher
    ..onto secreted and endomembrane cuproproteins by translocation from the cytosol into membrane-bound organelles by ATP7A or ATP7B transporters, the genes for which are mutated in the copper imbalance syndromes Menkes disease and Wilson ..
  28. Petris M, Camakaris J, Greenough M, Lafontaine S, Mercer J. A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network. Hum Mol Genet. 1998;7:2063-71 pubmed
    The human X-linked recessive disorder of copper metabolism, Menkes disease, is caused by a defect in the MNK ( ATP7A ) gene which encodes a transmembrane copper-transporting P-type ATPase (MNK)...
  29. Ogawa A, Yamamoto S, Takayanagi M, Kogo T, Kanazawa M, Kohno Y. Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. J Hum Genet. 1999;44:206-9 pubmed
    ..is an X-linked recessive disorder of the copper membrane transport system caused by mutations to the Menkes (MNK) gene...
  30. Kim B, Smith K, Petris M. A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase. J Med Genet. 2003;40:290-5 pubmed
  31. Tang J, Robertson S, Lem K, Godwin S, Kaler S. Functional copper transport explains neurologic sparing in occipital horn syndrome. Genet Med. 2006;8:711-8 pubmed
    ..Both phenotypes are caused by mutations in ATP7A, which encodes a copper-transporting adenosine triphosphatase, although defects causing occipital horn syndrome ..
  32. Tumer Z, Møller L, Horn N. Mutation spectrum of ATP7A, the gene defective in Menkes disease. Adv Exp Med Biol. 1999;448:83-95 pubmed
    ..The mutations will be compared briefly with those described in the animal model mottled mouse, and in Wilson disease, the autosomal recessive disorder of copper metabolism...
  33. Holloway Z, Velayos Baeza A, Howell G, Levecque C, Ponnambalam S, Sztul E, et al. Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent steps. Mol Biol Cell. 2013;24:1735-48, S1-8 pubmed publisher
    The transporter ATP7A mediates systemic copper absorption and provides cuproenzymes in the trans-Golgi network (TGN) with copper. To regulate metal homeostasis, ATP7A constitutively cycles between the TGN and plasma membrane (PM)...
  34. Cobbold C, Ponnambalam S, Francis M, Monaco A. Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase. Hum Mol Genet. 2002;11:2855-66 pubmed
    The Menkes disease protein (ATP7A or MNK) is a P-type transmembrane ATPase that regulates translocation of cytosolic copper ions across intracellular membranes of compartments along the secretory pathway...
  35. Møller L, Tumer Z, Lund C, Petersen C, Cole T, Hanusch R, et al. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am J Hum Genet. 2000;66:1211-20 pubmed
    More than 150 point mutations have now been identified in the ATP7A gene. Most of these mutations lead to the classic form of Menkes disease (MD), and a few lead to the milder occipital horn syndrome (OHS)...
  36. Gourdon P, Liu X, Skjørringe T, Morth J, Møller L, Pedersen B, et al. Crystal structure of a copper-transporting PIB-type ATPase. Nature. 2011;475:59-64 pubmed publisher
    ..The structure also provides a framework to analyse missense mutations in the human ATP7A and ATP7B proteins associated with Menkes' and Wilson's diseases.
  37. Ashino T, Sudhahar V, Urao N, Oshikawa J, Chen G, Wang H, et al. Unexpected role of the copper transporter ATP7A in PDGF-induced vascular smooth muscle cell migration. Circ Res. 2010;107:787-99 pubmed publisher
    ..copper is regulated not only by the copper importer CTR1 (copper transporter 1) but also by the copper exporter ATP7A (Menkes ATPase), whose function is achieved through copper-dependent translocation from trans-Golgi network (TGN)...
  38. Petris M, Mercer J. The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal. Hum Mol Genet. 1999;8:2107-15 pubmed
    Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A ( MNK ) gene which encodes a copper transporting P-type ATPase (MNK)...
  39. Yao J, Qin Z. Counteract of bone marrow of blotchy mice against the increases of plasma copper levels induced by high-fat diets in LDLR-/- mice. J Trace Elem Med Biol. 2015;31:11-7 pubmed publisher
    ..blotchy mouse (blotchy marrow) reflects the function of transmembrane domain and relevant intramembrane sites of ATP7A in myeloid cells...
  40. Levinson B, Conant R, Schnur R, Das S, Packman S, Gitschier J. A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. Hum Mol Genet. 1996;5:1737-42 pubmed
    ..X-linked connective tissue disorder, has recently been shown to result from mutations in the Menkes disease gene (MNK), which encodes a copper-transporting ATPase...
  41. Materia S, Cater M, Klomp L, Mercer J, La Fontaine S. Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B. J Biol Chem. 2011;286:10073-83 pubmed publisher
    The copper-transporting P(1B)-type ATPases (Cu-ATPases) ATP7A and ATP7B are key regulators of physiological copper levels...
  42. Kim E, Lee E, Lee H, Choi H, Ji K, Kim S, et al. Axl signaling induces development of natural killer cells in vitro and in vivo. Protoplasma. 2017;254:1091-1101 pubmed publisher
    ..to investigate whether Axl is required for the regulation of NK cell development, the expression of mature NK (mNK) cell-specific receptors and NK cell-associated genes was analyzed in the differentiated HSCs-derived NK cells in ..
  43. Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, et al. Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon. Eur J Hum Genet. 2014;22:517-21 pubmed publisher
    Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene. Whereas most of the patients exhibit a severe classical form, about 9% of the patients exhibit a milder form of Menkes disease...
  44. Mercer S, Burke R. Evidence for a role for the putative Drosophila hGRX1 orthologue in copper homeostasis. Biometals. 2016;29:705-13 pubmed publisher
    ..redox activity of the metalated sites of copper chaperones such as ATOX1 and SOD1, and the copper efflux proteins ATP7A and ATP7B...
  45. 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. 2005;352:409-17 pubmed
    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...
  46. Teo T, Yang Y, Yu M, Basnet S, Gillam T, Hou J, et al. An integrated approach for discovery of highly potent and selective Mnk inhibitors: Screening, synthesis and SAR analysis. Eur J Med Chem. 2015;103:539-50 pubmed publisher
    ..for oncogenesis but is dispensable for normal development, the discovery of potent and selective pharmacological Mnk inhibitors provides pharmacological target validation and offers a new strategy for cancer treatment...
  47. Tian S, Wang X, Proud C. Oncogenic MNK signalling regulates the metastasis suppressor NDRG1. Oncotarget. 2017;8:46121-46135 pubmed publisher
    ..Here we show that NDRG1 is also regulated by the oncogenic MAP kinase-interacting kinase (MNK) pathway, a target for cancer therapy...
  48. Aldenhoven M, Klomp L, van Hasselt P, de Koning T, Visser G. [From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect]. Ned Tijdschr Geneeskd. 2007;151:2266-70 pubmed
    ..neurological deterioration, failure to thrive, peculiar hair and death in childhood, secondary to mutations in the ATP7A gene. The ATP7A gene encodes for a copper transporting P-type ATPase (ATP7A), which is ubiquitously expressed...
  49. Cheng J, Luo Z, Chen G, Wei C, Zhuo M. Identification of eight copper (Cu) uptake related genes from yellow catfish Pelteobagrus fulvidraco, and their tissue expression and transcriptional responses to dietborne Cu exposure. J Trace Elem Med Biol. 2017;44:256-265 pubmed publisher
    ..transporter genes (ctr1 and ctr2), three copper chaperone genes (atox1, ccs and cox17), two Cu-ATPase genes (atp7a and atp7b) and divalent metal ion transporter 1 (dmt1), were cloned and characterized in yellow catfish P...
  50. Siddiqui N, Sonenberg N. Signalling to eIF4E in cancer. Biochem Soc Trans. 2015;43:763-72 pubmed publisher
    ..PKB)/mTOR (mechanistic/mammalian target of rapamycin) and Ras (rat sarcoma)/MAPK (mitogen-activated protein kinase)/Mnk (MAPK-interacting kinases)...
  51. Hatori Y, Yan Y, Schmidt K, Furukawa E, Hasan N, Yang N, et al. Neuronal differentiation is associated with a redox-regulated increase of copper flow to the secretory pathway. Nat Commun. 2016;7:10640 pubmed publisher
    ..Concomitantly, expression of Atox1 and its partner, a copper transporter ATP7A, is upregulated...
  52. Ke B, Llanos R, Wright M, Deal Y, Mercer J. Alteration of copper physiology in mice overexpressing the human Menkes protein ATP7A. Am J Physiol Regul Integr Comp Physiol. 2006;290:R1460-7 pubmed
    The Menkes protein (ATP7A) is defective in the Cu deficiency disorder Menkes disease and is an important contributor to the maintenance of physiological Cu homeostasis...
  53. Bonnemaison M, Duffy M, Mains R, Vogt S, Eipper B, Ralle M. Copper, zinc and calcium: imaging and quantification in anterior pituitary secretory granules. Metallomics. 2016;8:1012-22 pubmed publisher
    ..b>Atp7a, which transports copper into the lumen of the secretory pathway, was enriched in endosomes and Golgi, not in ..
  54. Chun H, Catterton T, Kim H, Lee J, Kim B. Organ-specific regulation of ATP7A abundance is coordinated with systemic copper homeostasis. Sci Rep. 2017;7:12001 pubmed publisher
    ..While the Cu transporter ATP7A plays a major role in both intestinal Cu mobilization to the periphery and prevention of Cu over-accumulation, it ..
  55. Wang Q, DING Y, Wang J, Huang Q, Zhao C, Liu Y, et al. [Clinical and ATP7A gene analysis of three infants with Menkes disease and prenatal diagnosis for a fetus at risk]. Zhongguo Dang Dai Er Ke Za Zhi. 2014;16:624-8 pubmed
    ..is a rare X-linked recessive disorder characterized by multi-systemic disorder of copper deficiency caused by ATP7A gene mutation...
  56. Dolgova N, Nokhrin S, Yu C, George G, Dmitriev O. Copper chaperone Atox1 interacts with the metal-binding domain of Wilson's disease protein in cisplatin detoxification. Biochem J. 2013;454:147-56 pubmed publisher
    Human copper transporters ATP7B (Wilson's disease protein) and ATP7A (Menkes' disease protein) have been implicated in tumour resistance to cisplatin, a widely used anticancer drug...
  57. Leary S, Cobine P, Nishimura T, Verdijk R, de Krijger R, de Coo R, et al. COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux. Mol Biol Cell. 2013;24:683-91 pubmed publisher
    ..The copper deficiency in SCO patient fibroblasts is rescued by knockdown of ATP7A, a trans-Golgi, copper-transporting ATPase that traffics to the plasma membrane during copper overload to promote ..
  58. Li Z, Qiu M, Zeng Z, Luo H, Wu W, Wang F, et al. Copper-transporting P-type adenosine triphosphatase (ATP7A) is associated with platinum-resistance in non-small cell lung cancer (NSCLC). J Transl Med. 2012;10:21 pubmed publisher
    Copper export protein ATP7A is important for maintaining copper homeostasis. Recent studies have shown that copper transporters are also involved in the transport of platinum...
  59. Mogensen M, Skjørringe T, Kodama H, Silver K, Horn N, Møller L. Exon duplications in the ATP7A gene: frequency and transcriptional behaviour. Orphanet J Rare Dis. 2011;6:73 pubmed publisher
    ..disease (MD) is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene...
  60. Vonk W, de Bie P, Wichers C, van den Berghe P, van der Plaats R, Berger R, et al. The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression. Cell Mol Life Sci. 2012;69:149-63 pubmed publisher
    ..A diversity of mutations in the gene encoding of the Golgi-resident copper-transporting P(1B)-type ATPase ATP7A underlies MD...
  61. Barry A, Otoikhian A, Bhatt S, Shinde U, Tsivkovskii R, Blackburn N, et al. The lumenal loop Met672-Pro707 of copper-transporting ATPase ATP7A binds metals and facilitates copper release from the intramembrane sites. J Biol Chem. 2011;286:26585-94 pubmed publisher
    The copper-transporting ATPase ATP7A has an essential role in human physiology...
  62. Desilva T, Veglia G, Opella S. Solution structures of the reduced and Cu(I) bound forms of the first metal binding sequence of ATP7A associated with Menkes disease. Proteins. 2005;61:1038-49 pubmed
  63. Bell J, Eckerdt F, Dhruv H, Finlay D, Peng S, Kim S, et al. Differential Response of Glioma Stem Cells to Arsenic Trioxide Therapy Is Regulated by MNK1 and mRNA Translation. Mol Cancer Res. 2018;16:32-46 pubmed publisher
    ..Additionally, it was determined that MNK inhibition sensitized MES GSCs to ATO in neurosphere and apoptosis assays...
  64. Kamiya T, Takeuchi K, Fukudome S, Hara H, Adachi T. Copper chaperone antioxidant-1, Atox-1, is involved in the induction of SOD3 in THP-1 cells. Biometals. 2018;31:61-68 pubmed publisher
    ..A treatment with 12-O-tetradecanoylphorbol-13-acetate (TPA) induced the expression of the Cu transport protein ATP7A in THP-1 cells...
  65. Banci L, Bertini I, Cantini F, Inagaki S, Migliardi M, Rosato A. The binding mode of ATP revealed by the solution structure of the N-domain of human ATP7A. J Biol Chem. 2010;285:2537-44 pubmed publisher
    We report the solution NMR structures of the N-domain of the Menkes protein (ATP7A) in the ATP-free and ATP-bound forms. The structures consist of a twisted antiparallel six-stranded beta-sheet flanked by two pairs of alpha-helices...
  66. Bohlken A, Cheung B, Bell J, Koach J, Smith S, Sekyere E, et al. ATP7A is a novel target of retinoic acid receptor beta2 in neuroblastoma cells. Br J Cancer. 2009;100:96-105 pubmed publisher
    ..b>ATP7A, the copper efflux pump, is a retinoid-responsive gene, was upregulated by ectopic overexpression of RARbeta(2)...
  67. Cox D, Moore S. Copper transporting P-type ATPases and human disease. J Bioenerg Biomembr. 2002;34:333-8 pubmed
    Copper transporting P-type ATPases, designated ATP7A and ATP7B, play an essential role in mammalian copper balance. Impaired intestinal transport of copper, resulting from mutations in the ATP7A gene, lead to Menkes disease in humans...