ID/Version |
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Sequence description from provider |
RecName: Full=Copper-transporting ATPase 1; EC=7.2.2.8 {ECO:0000250|UniProtKB:Q04656};AltName: Full=Copper pump 1;AltName: Full=Menkes disease-associated protein homolog; | ||||||||||||||
Provider | SWISS-PROT | ||||||||||||||
Sequence |
Polypeptide
1491
aa
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Annotated genes and markers |
Follow the symbol links to get more information on the GO terms,
expression assays, orthologs, phenotypic alleles, and other information
for the genes or markers below.
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Sequence references in MGI |
J:17492
Levinson B, et al., The mottled gene is the mouse homologue of the Menkes disease gene [see comments]. Nat Genet. 1994 Apr;6(4):369-73
J:17493 Mercer JF, et al., Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice [see comments]. Nat Genet. 1994 Apr;6(4):374-8 J:41388 Grimes A, et al., Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease. Hum Mol Genet. 1997 Jul;6(7):1037-42 J:46349 Ohta Y, et al., Occurrence of two missense mutations in Cu-ATpase of the macular mouse, a menkes disease model. Biochem Mol Biol Int. 1997 NOV;43(4):913-918 J:81409 Steveson TC, et al., Menkes protein contributes to the function of peptidylglycine alpha-amidating monooxygenase. Endocrinology. 2003 Jan;144(1):188-200 J:97021 Schlief ML, et al., NMDA receptor activation mediates copper homeostasis in hippocampal neurons. J Neurosci. 2005 Jan 5;25(1):239-46 J:105736 Qin Z, et al., Essential role for the Menkes ATPase in activation of extracellular superoxide dismutase: implication for vascular oxidative stress. FASEB J. 2006 Feb;20(2):334-6 J:139015 Setty SR, et al., Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes. Nature. 2008 Aug 28;454(7208):1142-6 J:143718 Trost M, et al., The phagosomal proteome in interferon-gamma-activated macrophages. Immunity. 2009 Jan;30(1):143-54 J:221066 Hodgkinson VL, et al., X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron. J Pathol. 2015 Jun;236(2):241-50 J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89 J:302464 Zhu S, et al., Multiple di-leucines in the ATP7A copper transporter are required for retrograde trafficking to the trans-Golgi network. Metallomics. 2016 Sep 1;8(9):993-1001 |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 05/14/2024 MGI 6.23 |
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