Symbol
Name
ID
|
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Synonyms
|
Atp7a, Wilson protein, WND
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Genetic Map
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Sequence Map
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Mammalian
homology
|
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Sequences
|
All sequences(12)
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Alleles
and
phenotypes
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All alleles(3) :
Targeted, knock-out(1)
Spontaneous(2)
| Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice. |
Associated Human Diseases (1)
Alleles Annotated to Human Diseases (3)
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Polymorphisms
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RFLP(1)
SNPs within 2kb(5 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
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Expression
|
Literature Summary: (1 records)
cDNA source data(3)
External Resources:
Allen Brain Atlas
GEO
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Molecular
reagents
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All nucleic(5)
cDNA(5)
Microarray probesets(3)
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Other database
links
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Protein
domains
|
| InterPro ID |
Description |
| IPR001757 |
ATPase, P-type, K/Mg/Cd/Cu/Zn/Na/Ca/Na/H-transporter |
| IPR001877 |
ATPase 1, copper-transporting |
| IPR005834 |
Haloacid dehalogenase-like hydrolase |
| IPR006121 |
Heavy metal transport/detoxification protein |
| IPR006122 |
Copper ion-binding |
| IPR006403 |
ATPase, P type, cation/copper-transporter |
| IPR006416 |
ATPase, P-type, heavy metal translocating |
| IPR008250 |
ATPase, P-type, ATPase-associated domain |
| IPR017969 |
Heavy-metal-associated, conserved site |
| IPR018303 |
ATPase, P-type phosphorylation site |
Graphical View
of Protein Domain Structure
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References
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(Earliest)
J:64103
Rauch H,
"tx - toxic milk"
Mouse News Lett 1977;56():48
(Latest)
J:148616
Leonhardt K et al.,
"Functional interactions of Cu-ATPase ATP7B with cisplatin and the role of ATP7B in the resistance of cells to the drug."
J Biol Chem 2009 Mar 20;284(12):7793-802
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All references(39)
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Other
accession IDs
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MGD-MRK-15308, MGD-MRK-24180
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