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Gene Ontology Classifications
ATPase, Cu++ transporting, alpha polypeptide

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Atp7a. (This text reflects annotations as of Tuesday, May 26, 2015.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of May 8, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. Andrews EJ et al. (1975) Spontaneous aortic aneurysms in blotchy mice. Am J Pathol, 78:199-210. (PubMed:1115218)
  2. Barnes N et al. (2005) The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum. J Biol Chem, 280:9640-5. (PubMed:15634671)
  3. Brophy CM et al. (1988) Age of onset, pattern of distribution, and histology of aneurysm development in a genetically predisposed mouse model. J Vasc Surg, 8:45-8. (PubMed:3385878)
  4. Camakaris J et al. (1979) Copper metabolism in mottled mouse mutants: copper concentrations in tissues during development. Biochem J, 180:597-604. (PubMed:573617)
  5. Cattanach BM et al. (1972) A comparative study of the coats of chimaeric mice and those of heterozygotes for X-linked genes. Genet Res, 19:213-28. (PubMed:4561716)
  6. Coutard M. (1999) Experimental cerebral aneurysms in the female heterozygous Blotchy mouse. Int J Exp Pathol, 80:357-67. (PubMed:10632785)
  7. Dickie MM. (1954) The tortoise shell house mouse J Hered, 45:158 & 190.
  8. Evans GW et al. (1978) Impaired copper homeostasis in neonatal male and adult female Brindled (Mobr) mice. J Nutr, 108:554-60. (PubMed:564942)
  9. Falconer DS et al. (1972) Sex-linked variegation modified by selection in brindled mice. Genet Res, 20:291-316. (PubMed:4670054)
  10. Fisk DE et al. (1976) Emphysema-like changes in the lungs of the blotchy mouse. Am Rev Respir Dis, 113:787-97. (PubMed:937819)
  11. Fraser AS et al. (1953) Mottled, a sex-modified lethal in the house mouse. J Genet, 51:217-221.
  12. Gacheru S et al. (1993) Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts. Arch Biochem Biophys, 301:325-9. (PubMed:8096378)
  13. Glasson SS et al. (1996) Blotchy mice: a model of osteoarthritis associated with a metabolic defect. Osteoarthritis Cartilage, 4:209-12. (PubMed:8895222)
  14. Grimes A et al. (1997) Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease. Hum Mol Genet, 6:1037-42. (PubMed:9215672)
  15. Hamza I et al. (2001) The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis. Proc Natl Acad Sci U S A, 98:6848-52. (PubMed:11391006)
  16. Hunt DM. (1977) Catecholamine biosynthesis and the activity of a number of copper-dependent enzymes in the copper deficient mottled mouse mutants. Comp Biochem Physiol C, 57:79-83. (PubMed:17511)
  17. Hunt DM. (1974) Primary defect in copper transport underlies mottled mutants in the mouse. Nature, 249:852-4. (PubMed:4858102)
  18. Hunt DM. (1976) A study of copper treatment and tissue copper levels in the murine congenital copper deficiency, mottled. Life Sci, 19:1913-9. (PubMed:187892)
  19. Hunt DM et al. (1972) An inherited deficiency in noradrenaline biosynthesis in the brindled mouse. J Neurochem, 19:2811-9. (PubMed:4405722)
  20. Hunt DM et al. (1972) Aromatic amino acid metabolism in brindled (Mobr) and viable-brindled (Movbr), two alleles at the mottled locus in the mouse. Biochem Genet, 6:31-40. (PubMed:4147174)
  21. Iwane S et al. (1990) Electron microscopic study on the homozygote (Ml/Ml) of the macular mutant mouse. Brain Dev, 12:509-15. (PubMed:2288383)
  22. Iwane S et al. (1989) Golgi study on the homozygote (Ml/Ml) of macular mutant mouse. Brain Dev, 11:154-60. (PubMed:2473662)
  23. Kelly EJ et al. (1996) A murine model of Menkes disease reveals a physiological function of metallothionein. Nat Genet, 13:219-22. (PubMed:8640230)
  24. Kodama H et al. (1991) Genetic expression of Menkes disease in cultured astrocytes of the macular mouse. J Inherit Metab Dis, 14:896-901. (PubMed:1779648)
  25. Koyama M et al. (1993) Copper metabolism in the macular mouse, an animal model for Menkes' kinky hair disease - Changes in the cytochrome-C oxidase activity and copper content in various organs after copper administration Biomed Res, 14:57-64.
  26. Kumode M et al. (1994) Histochemical study of mitochondrial enzymes in cerebellar cortex of macular mutant mouse, a model of Menkes kinky hair disease. Acta Neuropathol (Berl), 87:313-6. (PubMed:8009964)
  27. Kunz WS et al. (1999) Metabolic consequences of the cytochrome c oxidase deficiency in brain of copper-deficient Mo(vbr) mice. J Neurochem, 72:1580-5. (PubMed:10098864)
  28. Kuznetsov AV et al. (1996) Increase of flux control of cytochrome c oxidase in copper-deficient mottled brindled mice. J Biol Chem, 271:283-8. (PubMed:8550574)
  29. La Fontaine S et al. (1999) Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo blo) and brindled (Mo br) mouse mutants. Hum Mol Genet, 8:1069-75. (PubMed:10332039)
  30. Lyon MF. (1960) A further mutation of the mottled type in the house mouse. J Hered, 51:116-121.
  31. Mann JR et al. (1979) Copper metabolism in mottled mouse mutants: distribution of 64Cu in brindled (Mobr) mice. Biochem J, 180:613-9. (PubMed:573619)
  32. Mann JR et al. (1981) Copper metabolism in mottled mouse (Mus musculus) mutants. Studies of blotchy (Moblo) mice and a comparison with brindled (Mobr) mice. Biochem J, 196:81-8. (PubMed:7197928)
  33. Martin P et al. (1994) Heterotypic sprouting of serotonergic forebrain fibers in the brindled mottled mutant mouse. Brain Res Dev Brain Res, 77:215-25. (PubMed:8174230)
  34. Martin PM et al. (1991) The female brindled mouse as a model of Menkes' disease: the relationship of fur pattern to behavioral and neurochemical abnormalities. Dev Neurosci, 13:121-9. (PubMed:1752214)
  35. Masson W et al. (1997) Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease. J Med Genet, 34:729-32. (PubMed:9321757)
  36. Mototani Y et al. (2006) Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease. Genomics, 87:191-9. (PubMed:16338116)
  37. Moursi MM et al. (1995) Inhibition of aortic aneurysm development in blotchy mice by beta adrenergic blockade independent of altered lysyl oxidase activity. J Vasc Surg, 21:792-9. (PubMed:7769737)
  38. Murata Y et al. (1998) Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease. J Inherit Metab Dis, 21:199-202. (PubMed:9686356)
  39. Nakagawa S et al. (1993) Production of Normal-><-macular Mouse Chimeras - The Presence of Critical Tissue in the Macular Mutant Mouse, a Model of Menkes' Kinky Hair Disease Zoolog Sci, 10:653-660.
  40. Nakagawa S et al. (1993) The decreased immune responses in macular mouse, a model of Menkes' kinky hair disease. Res Commun Chem Pathol Pharmacol, 79:61-73. (PubMed:8434133)
  41. Packman S. (1987) Regulation of copper metabolism in the mottled mouse. Arch Dermatol, 123:1545-1547a. (PubMed:3674914)
  42. Packman S et al. (1984) Trace metal metabolism in cultured skin fibroblasts of the mottled mouse: response to metallothionein inducers. Pediatr Res, 18:1282-6. (PubMed:6542992)
  43. Packman S et al. (1983) Cadmium, zinc, and copper metabolism in the mottled mouse, an animal model for Menkes' kinky hair syndrome. J Inorg Biochem, 19:203-11. (PubMed:6685755)
  44. Phillips RJS. (1961) "Dappled", a new allele at the mottled locus in the house mouse. Genet Res, 2:290-295.
  45. Prins HW et al. (1979) Primary biochemical defect in copper metabolism in mice with a recessive X-linked mutation analogous to Menkes' disease in man. J Inorg Biochem, 10:19-27. (PubMed:571898)
  46. Qin Z et al. (2006) Essential role for the Menkes ATPase in activation of extracellular superoxide dismutase: implication for vascular oxidative stress. FASEB J, 20:334-6. (PubMed:16371425)
  47. Rasberry C et al. (1993) Three new mottled mutations - Mo<10H>, Mo<11H>, and Mo<12H> Mouse Genome, 91:851-53.
  48. Rossi L et al. (2001) Neurodegeneration in the animal model of Menkes' disease involves Bcl-2-linked apoptosis. Neuroscience, 103:181-8. (PubMed:11311799)
  49. Rowe DW et al. (1974) A sex-linked defect in the cross-linking of collagen and elastin associated with the mottled locus in mice. J Exp Med, 139:180-92. (PubMed:4808708)
  50. Rowe DW et al. (1977) Decreased lysyl oxidase activity in the aneurysm-prone, mottled mouse. J Biol Chem, 252:939-42. (PubMed:14140)
  51. Sayed AK et al. (1978) <64>Cu uptake by cultured fibroblasts from Mo
    /Y mice. Fed Proc, 37:746.
  52. Schlief ML et al. (2006) Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity. Proc Natl Acad Sci U S A, 103:14919-24. (PubMed:17003121)
  53. Schlief ML et al. (2005) NMDA receptor activation mediates copper homeostasis in hippocampal neurons. J Neurosci, 25:239-46. (PubMed:15634787)
  54. Schroder JH. (1975) Mottled Neuherberg (Mo), a new male- lethal coat colour mutation of the house mouse (Mus musculus) Theor Appl Genet, 46:135-42.
  55. Shiraishi N et al. (1993) Intracellular distribution of hepatic copper in macular mutant mice. An animal model of Menkes' kinky-hair disease. Biol Trace Elem Res, 37:179-86. (PubMed:7688531)
  56. Shiraishi N et al. (1993) Effect of age and sex on copper-induced toxicity in the macular mutant mouse. An animal model for Menkes' kinky-hair disease. Biol Trace Elem Res, 39:129-37. (PubMed:7509170)
  57. Starcher B et al. (1978) Abnormal cellular copper metabolism in the blotchy mouse. J Nutr, 108:1229-33. (PubMed:27591)
  58. Starcher BC et al. (1977) Lysyl oxidase deficiency in lung and fibroblasts from mice with hereditary emphysema. Biochem Biophys Res Commun, 78:706-12. (PubMed:20889)
  59. Steveson TC et al. (2003) Menkes protein contributes to the function of peptidylglycine alpha-amidating monooxygenase. Endocrinology, 144:188-200. (PubMed:12488345)
  60. Styrna J. (1977) Analysis of causes of lethality in mice with Ms (mosaic) gene Genetica Polonica, 18:61-79.
  61. Xu GQ et al. (1994) Nutritional state and catecholamine metabolism in macular mice Cong Anom, 34:353-8.
  62. Xu GQ et al. (1994) Copper distribution in fetus and placenta of the macular mutant mouse as a model of Menkes kinky hair disease. Biol Neonate, 66:302-10. (PubMed:7873696)
  63. Yoshimura N. (1994) Histochemical localization of copper in various organs of brindled mice. Pathol Int, 44:14-9. (PubMed:8025644)

Go Annotations in Tabular Form (Text View) (GO Graph)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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