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Gene Ontology Classifications
Symbol
Name
ID
Atp7a
ATPase, Cu++ transporting, alpha polypeptide
MGI:99400

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 Thursday, July 24, 2014.) 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
References
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  22. Iwane S et al. (1989) Golgi study on the homozygote (Ml/Ml) of macular mutant mouse. Brain Dev, 11:154-60. (PubMed:2473662)
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  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.
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  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)
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  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)
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  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)
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  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)
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  44. Phillips RJS. (1961) "Dappled", a new allele at the mottled locus in the house mouse. Genet Res, 2:290-295.
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  47. Rasberry C et al. (1993) Three new mottled mutations - Mo<10H>, Mo<11H>, and Mo<12H> Mouse Genome, 91:851-53.
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  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)
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  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)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  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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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory