Entity Details

Primary name ATP7B
Entity type gene
Source Source Link

Details

PrimaryID540
RefseqGeneNG_008806
SymbolATP7B
NameATPase copper transporting beta
Chromosome13
Location13q14.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1993-11-30
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsATP7B_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0005375 copper ion transmembrane transporter activity
GO:0005507 copper ion binding
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0005770 late endosome
GO:0005794 Golgi apparatus
GO:0005887 integral component of plasma membrane
GO:0006825 copper ion transport
GO:0006878 cellular copper ion homeostasis
GO:0015677 copper ion import
GO:0016020 membrane
GO:0032588 trans-Golgi network membrane
GO:0034220 ion transmembrane transport
GO:0043682 P-type divalent copper transporter activity
GO:0046688 response to copper ion
GO:0051208 sequestering of calcium ion
GO:0060003 copper ion export
GO:0140581 P-type monovalent copper transporter activity
GO:1990961 xenobiotic detoxification by transmembrane export across the plasma membrane

Diseases

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Disease IDSourceNameDescription
277900 OMIMWilson disease (WD)An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis. The disease is caused by variants affecting the gene represented in this entry.