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Protein

Copper-transporting ATPase 2

Gene

ATP7B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Copper ion transmembrane transporter involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile.4 Publications

Catalytic activityi

ATP + H2O + Cu+(Side 1) = ADP + phosphate + Cu+(Side 2).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi69Copper 12 Publications1
Metal bindingi72Copper 12 Publications1
Metal bindingi154Copper 22 Publications1
Metal bindingi157Copper 22 Publications1
Metal bindingi268Copper 32 Publications1
Metal bindingi271Copper 32 Publications1
Metal bindingi370Copper 42 Publications1
Metal bindingi373Copper 42 Publications1
Metal bindingi499Copper 52 Publications1
Metal bindingi502Copper 52 Publications1
Metal bindingi575Copper 62 Publications1
Metal bindingi578Copper 62 Publications1
Active sitei10274-aspartylphosphate intermediateBy similarity1
Metal bindingi1267MagnesiumPROSITE-ProRule annotation1
Metal bindingi1271MagnesiumPROSITE-ProRule annotation1

GO - Molecular functioni

  • ATP binding Source: UniProtKB
  • copper-exporting ATPase activity Source: UniProtKB
  • copper ion binding Source: UniProtKB
  • copper ion transmembrane transporter activity Source: UniProtKB
  • copper-transporting ATPase activity Source: UniProtKB

GO - Biological processi

  • cellular copper ion homeostasis Source: UniProtKB
  • cellular zinc ion homeostasis Source: Ensembl
  • copper ion import Source: UniProtKB
  • copper ion transport Source: UniProtKB
  • intracellular copper ion transport Source: Ensembl
  • ion transmembrane transport Source: Reactome
  • lactation Source: Ensembl
  • response to copper ion Source: UniProtKB
  • sequestering of calcium ion Source: UniProtKB

Keywordsi

Molecular functionHydrolase
Biological processCopper transport, Ion transport, Transport
LigandATP-binding, Copper, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi3.6.3.4. 2681.
ReactomeiR-HSA-936837. Ion transport by P-type ATPases.

Protein family/group databases

TCDBi3.A.3.5.3. the p-type atpase (p-atpase) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Copper-transporting ATPase 2 (EC:3.6.3.541 Publication)
Alternative name(s):
Copper pump 2
Wilson disease-associated protein
Cleaved into the following chain:
WND/140 kDa1 Publication
Gene namesi
Name:ATP7B
Synonyms:PWD, WC1, WND
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:870. ATP7B.

Subcellular locationi

Isoform 1 :
Isoform 2 :
WND/140 kDa :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 653CytoplasmicSequence analysisAdd BLAST653
Transmembranei654 – 675HelicalSequence analysisAdd BLAST22
Topological domaini676 – 697ExtracellularSequence analysisAdd BLAST22
Transmembranei698 – 717HelicalSequence analysisAdd BLAST20
Topological domaini718 – 724CytoplasmicSequence analysis7
Transmembranei725 – 745HelicalSequence analysisAdd BLAST21
Topological domaini746 – 764ExtracellularSequence analysisAdd BLAST19
Transmembranei765 – 785HelicalSequence analysisAdd BLAST21
Topological domaini786 – 919CytoplasmicSequence analysisAdd BLAST134
Transmembranei920 – 942HelicalSequence analysisAdd BLAST23
Topological domaini943 – 972ExtracellularSequence analysisAdd BLAST30
Transmembranei973 – 994HelicalSequence analysisAdd BLAST22
Topological domaini995 – 1322CytoplasmicSequence analysisAdd BLAST328
Transmembranei1323 – 1340HelicalSequence analysisAdd BLAST18
Topological domaini1341 – 1351ExtracellularSequence analysisAdd BLAST11
Transmembranei1352 – 1371HelicalSequence analysisAdd BLAST20
Topological domaini1372 – 1465CytoplasmicSequence analysisAdd BLAST94

GO - Cellular componenti

  • Golgi apparatus Source: HPA
  • Golgi membrane Source: Reactome
  • integral component of plasma membrane Source: UniProtKB
  • late endosome Source: UniProtKB
  • membrane Source: UniProtKB
  • mitochondrion Source: UniProtKB-SubCell
  • trans-Golgi network membrane Source: UniProtKB

Keywords - Cellular componenti

Cytoplasm, Endosome, Golgi apparatus, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Wilson disease (WD)78 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:277900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02301141N → S in WD; does not affect interaction with COMMD1. 2 PublicationsCorresponds to variant dbSNP:rs201738967Ensembl.1
Natural variantiVAR_07672944Y → N in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_00070385G → V in WD; decreased copper transport activity; decreased ATPase activity; increased interaction with COMMD1; decreased localization to trans-Golgi network; increased degradation. 4 PublicationsCorresponds to variant dbSNP:rs786204643Ensembl.1
Natural variantiVAR_076730108C → R in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_076693136R → W in WD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs557577836Ensembl.1
Natural variantiVAR_076694148R → W in WD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs373762572Ensembl.1
Natural variantiVAR_076731157C → F in WD. 1 PublicationCorresponds to variant dbSNP:rs551275663Ensembl.1
Natural variantiVAR_076810170G → V in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_076695382S → C in WD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs774102085Ensembl.1
Natural variantiVAR_044454486A → S in WD; does not affect interaction with COMMD1. 2 Publications1
Natural variantiVAR_000710492L → S in WD; decreased copper transport activity; decreased ATPase activity; does not affect interaction with COMMD1. 3 Publications1
Natural variantiVAR_044455532Y → H in WD; no effect on copper transport activity; does not affect interaction with COMMD1. 3 Publications1
Natural variantiVAR_058925536V → A in WD; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs138427376Ensembl.1
Natural variantiVAR_076970539P → L in WD. 1 PublicationCorresponds to variant dbSNP:rs572122562Ensembl.1
Natural variantiVAR_076696541E → K in WD; unknown pathological significance; does not affect interaction with COMMD1. 2 PublicationsCorresponds to variant dbSNP:rs187046823Ensembl.1
Natural variantiVAR_067335549L → P in WD. 1 Publication1
Natural variantiVAR_044456591G → D in WD; increased interaction with COMMD1; decreased localization to trans-Glogi network. 2 PublicationsCorresponds to variant dbSNP:rs797045402Ensembl.1
Natural variantiVAR_076794591G → S in WD. 1 Publication1
Natural variantiVAR_076697597V → I in WD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760501309Ensembl.1
Natural variantiVAR_044457604A → P in WD; increased interaction with COMMD1. 2 Publications1
Natural variantiVAR_076732606V → G in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_010009608 – 609FD → Y in WD. 1 Publication2
Natural variantiVAR_076698614G → C in WD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376565432Ensembl.1
Natural variantiVAR_009004616R → Q in WD; does not affect interaction with COMMD1. 3 PublicationsCorresponds to variant dbSNP:rs752850609Ensembl.1
Natural variantiVAR_023012616R → W in WD; decreased copper transport activity; increased ATPase activity; does not affect interaction with COMMD1. 3 PublicationsCorresponds to variant dbSNP:rs374172791Ensembl.1
Natural variantiVAR_000712626G → A in WD; no effect on protein abundance; no effect on protein localization; may have an effect on copper transport activity; no effect on ATPase activity; does not affect interaction with COMMD1. 6 PublicationsCorresponds to variant dbSNP:rs587783299Ensembl.1
Natural variantiVAR_044458639H → Y in WD; unknown pathological significance; no effect on protein abundance; no effect on protein localization; no effect on copper transport activity. 2 PublicationsCorresponds to variant dbSNP:rs200728096Ensembl.1
Natural variantiVAR_023013641L → S in WD; unknown pathological significance; no effect on protein abundance; no effect on protein localization; no effect on copper transport activity; does not affect interaction with COMMD1. 5 PublicationsCorresponds to variant dbSNP:rs186924074Ensembl.1
Natural variantiVAR_000713642D → H in WD; no effect on protein abundance; no effect on protein localization; no effect on copper transport activity; does not affect interaction with COMMD1. 4 PublicationsCorresponds to variant dbSNP:rs72552285Ensembl.1
Natural variantiVAR_000714645M → R in WD; no effect on protein abundance; no effect on protein localization; no effect on copper transport activity; increased ATPase activity; does not affect interaction with COMMD1. 7 PublicationsCorresponds to variant dbSNP:rs121907998Ensembl.1
Natural variantiVAR_044459653S → Y in WD; no effect on protein abundance; altered copper-induced relocalization; no effect on copper transport activity. 2 Publications1
Natural variantiVAR_058926657S → R in WD. 1 PublicationCorresponds to variant dbSNP:rs372436901Ensembl.1
Natural variantiVAR_000715665M → I in WD; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs72552259Ensembl.1
Natural variantiVAR_009005670 – 671Missing in WD. 1 Publication2
Natural variantiVAR_023014690P → L in WD. 1 Publication1
Natural variantiVAR_000716691G → R in WD. 2 PublicationsCorresponds to variant dbSNP:rs121908001Ensembl.1
Natural variantiVAR_023015693S → C in WD. 1 Publication1
Natural variantiVAR_044460703C → Y in WD. 2 PublicationsCorresponds to variant dbSNP:rs767218895Ensembl.1
Natural variantiVAR_000717708L → P in WD. 1 PublicationCorresponds to variant dbSNP:rs121908000Ensembl.1
Natural variantiVAR_010010710G → A in WD. 2 Publications1
Natural variantiVAR_000718710G → R in WD. 1
Natural variantiVAR_000719710G → S in WD; decreased copper transport activity; no effect on ATPase activity. 6 PublicationsCorresponds to variant dbSNP:rs137853285Ensembl.1
Natural variantiVAR_044461710G → V in WD. 1 Publication1
Natural variantiVAR_000720711G → E in WD. 1
Natural variantiVAR_009006711G → R in WD. 1 Publication1
Natural variantiVAR_009007711G → W in WD. 1
Natural variantiVAR_000721713Y → C in WD. Corresponds to variant dbSNP:rs756883878Ensembl.1
Natural variantiVAR_023016721S → P in WD. 1 PublicationCorresponds to variant dbSNP:rs765667658Ensembl.1
Natural variantiVAR_076733729M → V in WD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs773447981Ensembl.1
Natural variantiVAR_076699731V → A in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_076734732L → H in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_076735732L → P in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_023017737T → R in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_010011741Y → C in WD. 1 PublicationCorresponds to variant dbSNP:rs770533110Ensembl.1
Natural variantiVAR_009008744S → P in WD. 1 Publication1
Natural variantiVAR_076700745L → P in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_000723747I → F in WD. 1 Publication1
Natural variantiVAR_044462756A → G in WD. 2 Publications1
Natural variantiVAR_023018760P → L in WD; decreased copper transport activity; increased ATPase activity. 3 PublicationsCorresponds to variant dbSNP:rs766907687Ensembl.1
Natural variantiVAR_023019765D → G in WD. 1 Publication1
Natural variantiVAR_076811765D → H in WD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs28942075Ensembl.1
Natural variantiVAR_000724765D → N in WD; decreased copper transport activity; increased ATPase activity; decreased localization to TGN and reduced capacity to redistribute to cytoplasmic vesicles under high-copper levels. 8 PublicationsCorresponds to variant dbSNP:rs28942075Ensembl.1
Natural variantiVAR_044463766T → M in WD. 1 PublicationCorresponds to variant dbSNP:rs121907997Ensembl.1
Natural variantiVAR_044464766T → R in WD. 1 PublicationCorresponds to variant dbSNP:rs121907997Ensembl.1
Natural variantiVAR_023020768P → H in WD. 1 Publication1
Natural variantiVAR_023021769M → I in WD. 1 Publication1
Natural variantiVAR_009009769M → R in WD. Corresponds to variant dbSNP:rs772595172Ensembl.1
Natural variantiVAR_000725769M → V in WD; possible decreased copper transport activity; increased ATPase activity. 6 PublicationsCorresponds to variant dbSNP:rs193922103Ensembl.1
Natural variantiVAR_044465776L → P in WD. 1 Publication1
Natural variantiVAR_000726776L → V in WD; unknown pathological significance; no effect on copper transport activity; decreased localization to TGN and reduced capacity to redistribute to cytoplasmic vesicles under high-copper levels. 2 Publications1
Natural variantiVAR_000727778R → G in WD. 7 PublicationsCorresponds to variant dbSNP:rs137853284Ensembl.1
Natural variantiVAR_000728778R → L in WD; most common mutation; decreased copper transport activity; extensively localized throughout the cell in the distribution pattern of the endoplasmic reticulum. 17 PublicationsCorresponds to variant dbSNP:rs28942074Ensembl.1
Natural variantiVAR_000729778R → Q in WD; decreased copper transport activity. 6 PublicationsCorresponds to variant dbSNP:rs28942074Ensembl.1
Natural variantiVAR_000730778R → W in WD. 7 PublicationsCorresponds to variant dbSNP:rs137853284Ensembl.1
Natural variantiVAR_076971779W → G in WD. 2 PublicationsCorresponds to variant dbSNP:rs751798708Ensembl.1
Natural variantiVAR_075336788T → I in WD; decreased copper ion transmembrane transporter activity. 2 PublicationsCorresponds to variant dbSNP:rs541408630Ensembl.1
Natural variantiVAR_000731795L → F in WD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs751710854Ensembl.1
Natural variantiVAR_009010795L → R in WD. 1
Natural variantiVAR_076972816R → S in WD. 1 Publication1
Natural variantiVAR_076765827R → P in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_076736827R → W in WD; yeast complementation assays show that the variant does not rescue iron-uptake deficiency of yeast mutant ccc2. 1 PublicationCorresponds to variant dbSNP:rs539585071Ensembl.1
Natural variantiVAR_076812836G → E in WD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs773809011Ensembl.1
Natural variantiVAR_000733840P → L in WD; decreased copper transport activity; increased ATPase activity. 2 PublicationsCorresponds to variant dbSNP:rs768671894Ensembl.1
Natural variantiVAR_000734857I → T in WD; decreased copper transport activity; increased ATPase activity. 2 Publications1
Natural variantiVAR_076766858T → A in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_044466861A → T in WD. 1 Publication1
Natural variantiVAR_000736869G → R in WD. 2 PublicationsCorresponds to variant dbSNP:rs191312027Ensembl.1
Natural variantiVAR_009011869G → V in WD. 1
Natural variantiVAR_076737874A → P in WD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376355660Ensembl.1
Natural variantiVAR_000737874A → V in WD; decreased copper transport activity; increased ATPase activity; decreased localization to the TGN. 15 PublicationsCorresponds to variant dbSNP:rs121907994Ensembl.1
Natural variantiVAR_044467875G → V in WD; requires 2 nucleotide substitutions. 1
Natural variantiVAR_023023890V → M in WD. 3 PublicationsCorresponds to variant dbSNP:rs786204718Ensembl.1
Natural variantiVAR_076738891G → D in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_010012891G → V in WD. 1
Natural variantiVAR_023024898Q → R in WD. 1 Publication1
Natural variantiVAR_076739899 – 907Missing in WD; unknown pathological significance. 2 Publications9
Natural variantiVAR_076767899I → F in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_023025918D → E in WD. 1 Publication1
Natural variantiVAR_000738918D → N in WD. 1 PublicationCorresponds to variant dbSNP:rs540935874Ensembl.1
Natural variantiVAR_000739919R → G in WD. 9 PublicationsCorresponds to variant dbSNP:rs121907993Ensembl.1
Natural variantiVAR_000740919R → W in WD. 4 PublicationsCorresponds to variant dbSNP:rs121907993Ensembl.1
Natural variantiVAR_000741921S → N in WD. 1 Publication1
Natural variantiVAR_076740921S → R in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_000742933T → P in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_000743935T → M in WD. 5 PublicationsCorresponds to variant dbSNP:rs750019452Ensembl.1
Natural variantiVAR_076701936L → V in WD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs367855110Ensembl.1
Natural variantiVAR_076813939W → C in WD. 1 Publication1
Natural variantiVAR_044468943G → C in WD. 1 Publication1
Natural variantiVAR_000744943G → D in WD. 4 PublicationsCorresponds to variant dbSNP:rs779323689Ensembl.1
Natural variantiVAR_000745943G → S in WD; no effect on copper transport activity; normally localized to TGN network but unable to redistribute to cytoplasmic vesicles in response to copper. 5 PublicationsCorresponds to variant dbSNP:rs28942076Ensembl.1
Natural variantiVAR_023026949V → G in WD. 2 Publications1
Natural variantiVAR_010013967I → F in WD. 1 PublicationCorresponds to variant dbSNP:rs60003608Ensembl.1
Natural variantiVAR_000747969R → Q in WD; decreased copper transport activity; increased ATPase activity; no effect on localization. 10 PublicationsCorresponds to variant dbSNP:rs121907996Ensembl.1
Natural variantiVAR_076768969R → W in WD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs774028495Ensembl.1
Natural variantiVAR_058927971A → V in WD. 1 PublicationCorresponds to variant dbSNP:rs770340441Ensembl.1
Natural variantiVAR_058928974T → M in WD. 1 PublicationCorresponds to variant dbSNP:rs201061621Ensembl.1
Natural variantiVAR_023027975S → Y in WD. 2 PublicationsCorresponds to variant dbSNP:rs778163447Ensembl.1
Natural variantiVAR_000748977T → M in WD; loss of copper transport activity. 9 PublicationsCorresponds to variant dbSNP:rs72552255Ensembl.1
Natural variantiVAR_076742980C → Y in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_077616982A → T in WD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750407121Ensembl.1
Natural variantiVAR_076769982A → V in WD; unknown pathological significance. 1 Publication1
Natural variantiVAR_009012985C → Y in WD. 1 Publication1
Natural variantiVAR_076743987L → P in WD; unknown pathological significance. 1 Publication1