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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

Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile.3 Publications

Catalytic activityi

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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi69 – 691Copper 12 Publications
Metal bindingi72 – 721Copper 12 Publications
Metal bindingi154 – 1541Copper 22 Publications
Metal bindingi157 – 1571Copper 22 Publications
Metal bindingi268 – 2681Copper 32 Publications
Metal bindingi271 – 2711Copper 32 Publications
Metal bindingi370 – 3701Copper 42 Publications
Metal bindingi373 – 3731Copper 42 Publications
Metal bindingi499 – 4991Copper 52 Publications
Metal bindingi502 – 5021Copper 52 Publications
Metal bindingi575 – 5751Copper 62 Publications
Metal bindingi578 – 5781Copper 62 Publications
Active sitei1027 – 102714-aspartylphosphate intermediateBy similarity
Metal bindingi1267 – 12671MagnesiumPROSITE-ProRule annotation
Metal bindingi1271 – 12711MagnesiumPROSITE-ProRule annotation

GO - Molecular functioni

  • ATP binding Source: UniProtKB
  • copper-exporting ATPase activity Source: UniProtKB
  • copper ion binding Source: UniProtKB
  • copper-transporting ATPase activity Source: UniProtKB
  • zinc ion binding Source: Ensembl

GO - Biological processi

  • cellular copper ion homeostasis Source: UniProtKB
  • cellular zinc ion homeostasis Source: Ensembl
  • circadian rhythm 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 cAMP Source: Ensembl
  • response to copper ion Source: UniProtKB
  • response to zinc ion Source: Ensembl
  • sequestering of calcium ion Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Copper transport, Ion transport, Transport

Keywords - Ligandi

ATP-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 :
  • Cytoplasm 1 Publication
WND/140 kDa :

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 653653CytoplasmicSequence analysisAdd
BLAST
Transmembranei654 – 67522HelicalSequence analysisAdd
BLAST
Topological domaini676 – 69722ExtracellularSequence analysisAdd
BLAST
Transmembranei698 – 71720HelicalSequence analysisAdd
BLAST
Topological domaini718 – 7247CytoplasmicSequence analysis
Transmembranei725 – 74521HelicalSequence analysisAdd
BLAST
Topological domaini746 – 76419ExtracellularSequence analysisAdd
BLAST
Transmembranei765 – 78521HelicalSequence analysisAdd
BLAST
Topological domaini786 – 919134CytoplasmicSequence analysisAdd
BLAST
Transmembranei920 – 94223HelicalSequence analysisAdd
BLAST
Topological domaini943 – 97230ExtracellularSequence analysisAdd
BLAST
Transmembranei973 – 99422HelicalSequence analysisAdd
BLAST
Topological domaini995 – 1322328CytoplasmicSequence analysisAdd
BLAST
Transmembranei1323 – 134018HelicalSequence analysisAdd
BLAST
Topological domaini1341 – 135111ExtracellularSequence analysisAdd
BLAST
Transmembranei1352 – 137120HelicalSequence analysisAdd
BLAST
Topological domaini1372 – 146594CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • bicellular tight junction Source: Ensembl
  • 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
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Golgi apparatus, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Wilson disease (WD)54 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411N → S in WD. 1 Publication
VAR_023011
Natural varianti85 – 851G → V in WD; decreased copper transport activity; decreased ATPase activity. 3 Publications
VAR_000703
Natural varianti486 – 4861A → S in WD. 1 Publication
VAR_044454
Natural varianti492 – 4921L → S in WD; decreased copper transport activity; decreased ATPase activity. 2 Publications
VAR_000710
Natural varianti532 – 5321Y → H in WD; no effect on copper transport activity. 2 Publications
VAR_044455
Natural varianti536 – 5361V → A in WD. 1 Publication
Corresponds to variant rs138427376 [ dbSNP | Ensembl ].
VAR_058925
Natural varianti549 – 5491L → P in WD. 1 Publication
VAR_067335
Natural varianti591 – 5911G → D in WD. 1 Publication
VAR_044456
Natural varianti604 – 6041A → P in WD. 1 Publication
VAR_044457
Natural varianti608 – 6092FD → Y in WD. 1 Publication
VAR_010009
Natural varianti616 – 6161R → Q in WD. 2 Publications
VAR_009004
Natural varianti616 – 6161R → W in WD; decreased copper transport activity; increased ATPase activity. 2 Publications
VAR_023012
Natural varianti626 – 6261G → 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. 5 Publications
VAR_000712
Natural varianti639 – 6391H → Y in WD; unknown pathological significance; no effect on protein abundance; no effect on protein localization; no effect on copper transport activity. 2 Publications
VAR_044458
Natural varianti641 – 6411L → S in WD; unknown pathological significance; no effect on protein abundance; no effect on protein localization; no effect on copper transport activity. 3 Publications
Corresponds to variant rs186924074 [ dbSNP | Ensembl ].
VAR_023013
Natural varianti642 – 6421D → H in WD; no effect on protein abundance; no effect on protein localization; no effect on copper transport activity. 4 Publications
VAR_000713
Natural varianti645 – 6451M → R in WD; no effect on protein abundance; no effect on protein localization; no effect on copper transport activity; increased ATPase activity. 4 Publications
VAR_000714
Natural varianti653 – 6531S → Y in WD; no effect on protein abundance; altered copper-induced relocalization; no effect on copper transport activity. 2 Publications
VAR_044459
Natural varianti657 – 6571S → R in WD. 1 Publication
VAR_058926
Natural varianti665 – 6651M → I in WD. 1 Publication
Corresponds to variant rs72552259 [ dbSNP | Ensembl ].
VAR_000715
Natural varianti670 – 6712Missing in WD. 1 Publication
VAR_009005
Natural varianti690 – 6901P → L in WD. 1 Publication
VAR_023014
Natural varianti691 – 6911G → R in WD. 2 Publications
VAR_000716
Natural varianti693 – 6931S → C in WD. 1 Publication
VAR_023015
Natural varianti703 – 7031C → Y in WD. 2 Publications
VAR_044460
Natural varianti708 – 7081L → P in WD. 1 Publication
VAR_000717
Natural varianti710 – 7101G → A in WD. 2 Publications
VAR_010010
Natural varianti710 – 7101G → R in WD.
VAR_000718
Natural varianti710 – 7101G → S in WD; decreased copper transport activity; no effect on ATPase activity. 5 Publications
VAR_000719
Natural varianti710 – 7101G → V in WD. 1 Publication
VAR_044461
Natural varianti711 – 7111G → E in WD.
VAR_000720
Natural varianti711 – 7111G → R in WD. 1 Publication
VAR_009006
Natural varianti711 – 7111G → W in WD.
VAR_009007
Natural varianti713 – 7131Y → C in WD.
VAR_000721
Natural varianti721 – 7211S → P in WD. 1 Publication
VAR_023016
Natural varianti737 – 7371T → R in WD. 1 Publication
VAR_023017
Natural varianti741 – 7411Y → C in WD. 1 Publication
VAR_010011
Natural varianti744 – 7441S → P in WD. 1 Publication
VAR_009008
Natural varianti747 – 7471I → F in WD. 1 Publication
VAR_000723
Natural varianti756 – 7561A → G in WD. 1 Publication
VAR_044462
Natural varianti760 – 7601P → L in WD; decreased copper transport activity; increased ATPase activity. 3 Publications
VAR_023018
Natural varianti765 – 7651D → G in WD. 1 Publication
VAR_023019
Natural varianti765 – 7651D → N in WD; decreased copper transport activity; increased ATPase activity. 7 Publications
Corresponds to variant rs28942075 [ dbSNP | Ensembl ].
VAR_000724
Natural varianti766 – 7661T → M in WD. 1 Publication
VAR_044463
Natural varianti766 – 7661T → R in WD. 1 Publication
VAR_044464
Natural varianti768 – 7681P → H in WD. 1 Publication
VAR_023020
Natural varianti769 – 7691M → I in WD. 1 Publication
VAR_023021
Natural varianti769 – 7691M → R in WD.
VAR_009009
Natural varianti769 – 7691M → V in WD; possible decreased copper transport activity; increased ATPase activity. 3 Publications
VAR_000725
Natural varianti776 – 7761L → P in WD. 1 Publication
VAR_044465
Natural varianti778 – 7781R → G in WD. 7 Publications
VAR_000727
Natural varianti778 – 7781R → L in WD; most common mutation; decreased copper transport activity. 11 Publications
Corresponds to variant rs28942074 [ dbSNP | Ensembl ].
VAR_000728
Natural varianti778 – 7781R → Q in WD; decreased copper transport activity. 2 Publications
VAR_000729
Natural varianti778 – 7781R → W in WD. 5 Publications
VAR_000730
Natural varianti788 – 7881T → I in WD. 1 Publication
VAR_075336
Natural varianti795 – 7951L → F in WD.
VAR_000731
Natural varianti795 – 7951L → R in WD.
VAR_009010
Natural varianti840 – 8401P → L in WD; decreased copper transport activity; increased ATPase activity. 2 Publications
VAR_000733
Natural varianti857 – 8571I → T in WD; decreased copper transport activity; increased ATPase activity. 2 Publications
VAR_000734
Natural varianti861 – 8611A → T in WD. 1 Publication
VAR_044466
Natural varianti869 – 8691G → R in WD. 1 Publication
Corresponds to variant rs191312027 [ dbSNP | Ensembl ].
VAR_000736
Natural varianti869 – 8691G → V in WD.
VAR_009011
Natural varianti874 – 8741A → V in WD; decreased copper transport activity; increased ATPase activity; decreased localization to the TGN. 11 Publications
VAR_000737
Natural varianti875 – 8751G → V in WD; requires 2 nucleotide substitutions.
VAR_044467
Natural varianti890 – 8901V → M in WD. 2 Publications
VAR_023023
Natural varianti891 – 8911G → V in WD.
VAR_010012
Natural varianti898 – 8981Q → R in WD. 1 Publication
VAR_023024
Natural varianti918 – 9181D → E in WD. 1 Publication
VAR_023025
Natural varianti918 – 9181D → N in WD. 1 Publication
VAR_000738
Natural varianti919 – 9191R → G in WD. 5 Publications
VAR_000739
Natural varianti919 – 9191R → W in WD. 2 Publications
VAR_000740
Natural varianti921 – 9211S → N in WD. 1 Publication
VAR_000741
Natural varianti933 – 9331T → P in WD. 1 Publication
VAR_000742
Natural varianti935 – 9351T → M in WD. 1 Publication
VAR_000743
Natural varianti943 – 9431G → C in WD. 1 Publication
VAR_044468
Natural varianti943 – 9431G → D in WD. 1 Publication
VAR_000744
Natural varianti943 – 9431G → S in WD; no effect on copper transport activity. 3 Publications
Corresponds to variant rs28942076 [ dbSNP | Ensembl ].
VAR_000745
Natural varianti949 – 9491V → G in WD. 2 Publications
VAR_023026
Natural varianti967 – 9671I → F in WD. 1 Publication
Corresponds to variant rs60003608 [ dbSNP | Ensembl ].
VAR_010013
Natural varianti969 – 9691R → Q in WD; decreased copper transport activity; increased ATPase activity; no effect on localization. 9 Publications
VAR_000747
Natural varianti971 – 9711A → V in WD. 1 Publication
VAR_058927
Natural varianti974 – 9741T → M in WD. 1 Publication
VAR_058928
Natural varianti975 – 9751S → Y in WD. 1 Publication
VAR_023027
Natural varianti977 – 9771T → M in WD; loss of copper transport activity. 6 Publications
VAR_000748
Natural varianti985 – 9851C → Y in WD. 1 Publication
VAR_009012
Natural varianti988 – 9881G → R in WD. 1 Publication
VAR_044469
Natural varianti991 – 9911T → M in WD. 1 Publication
Corresponds to variant rs41292782 [ dbSNP | Ensembl ].
VAR_044470
Natural varianti992 – 9921P → H in WD. 1 Publication
VAR_044471
Natural varianti992 – 9921P → L in WD; common mutation; decreased copper transport activity; no effect on ATPase activity. 6 Publications
VAR_000749
Natural varianti996 – 9961M → T in WD. 1 Publication
VAR_044472
Natural varianti998 – 9981G → D in WD. 1 Publication
VAR_067336
Natural varianti1000 – 10001G → R in WD. 1 Publication
VAR_044473
Natural varianti1003 – 10031A → T in WD. 5 Publications
Corresponds to variant rs201497300 [ dbSNP | Ensembl ].
VAR_000751
Natural varianti1003 – 10031A → V in WD. 2 Publications
VAR_009013
Natural varianti1004 – 10041Q → P in WD. 1 Publication
VAR_058929
Natural varianti1018 – 10181A → V in WD. 2 Publications
VAR_000752
Natural varianti1029 – 10291T → I in WD. 1 Publication
VAR_044474
Natural varianti1031 – 10311T → I in WD. 1 Publication
VAR_010014
Natural varianti1033 – 10331T → A in WD.
VAR_009014
Natural varianti1033 – 10331T → S in WD. 1 Publication
VAR_023028
Natural varianti1035 – 10351G → V in WD. 1 Publication
VAR_000753
Natural varianti1036 – 10361V → I in WD. 1 Publication
VAR_075337
Natural varianti1038 – 10381R → K in WD. 1 Publication
Corresponds to variant rs59959366 [ dbSNP | Ensembl ].
VAR_010015
Natural varianti1041 – 10411R → P in WD. 2 Publications
VAR_009015
Natural varianti1041 – 10411R → W in WD; unknown pathological significance; no effect on copper transport activity. 5 Publications
VAR_000754
Natural varianti1043 – 10431L → P in WD.
VAR_000755
Natural varianti1052 – 10521P → L in WD; loss of copper transport activity; no effect on ATPase activity. 1 Publication
VAR_009016
Natural varianti1061 – 10611G → E in WD. 3 Publications
VAR_009017
Natural varianti1063 – 10631A → V in WD. 3 Publications
VAR_009018
Natural varianti1064 – 10641E → A in WD. 1 Publication
VAR_000756
Natural varianti1064 – 10641E → K in WD; loss of copper transport activity; loss of ATPase activity. 4 Publications
VAR_000757
Natural varianti1065 – 10651A → P in WD.
VAR_044475
Natural varianti1068 – 10681E → G in WD; common mutation. 1 Publication
VAR_009019
Natural varianti1069 – 10691H → Q in WD; common mutation; decreased copper transport activity; loss of ATPase activity. 15 Publications
VAR_000758
Natural varianti1083 – 10831L → F in WD; decreased copper transport activity; no effect on ATPase activity; decreased localization to the TGN. 6 Publications
VAR_000759
Natural varianti1089 – 10891G → E in WD. 1 Publication
VAR_000760
Natural varianti1089 – 10891G → V in WD. 1 Publication
VAR_000761
Natural varianti1094 – 10941F → L in WD. 1 Publication
VAR_023029
Natural varianti1095 – 10951Q → P in WD. 1 Publication
VAR_009020
Natural varianti1098 – 10981P → R in WD. 1 Publication
VAR_023030
Natural varianti1099 – 10991G → S in WD. 2 Publications
VAR_023031
Natural varianti1101 – 11011G → R in WD.
VAR_000762
Natural varianti1102 – 11021I → T in WD. 3 Publications
VAR_000763
Natural varianti1104 – 11041C → F in WD. 1 Publication
VAR_009021
Natural varianti1104 – 11041C → Y in WD. 1 Publication
VAR_044476
Natural varianti1106 – 11061V → D in WD; marked impairment in copper transport. 2 Publications
VAR_010017
Natural varianti1106 – 11061V → I in WD. 1 Publication
VAR_044477
Natural varianti1111 – 11111G → D in WD. 1 Publication
Corresponds to variant rs182659444 [ dbSNP | Ensembl ].
VAR_023032
Natural varianti1142 – 11421Q → H in WD.
VAR_000766
Natural varianti1146 – 11461V → M in WD. 1 Publication
VAR_000767
Natural varianti1148 – 11481I → T in WD. 5 Publications
Corresponds to variant rs60431989 [ dbSNP | Ensembl ].
VAR_000768
Natural varianti1149 – 11491G → A in WD. 1 Publication
VAR_058930
Natural varianti1151 – 11511R → C in WD. 1 Publication
VAR_075338
Natural varianti1151 – 11511R → H in WD. 1 Publication
VAR_009022
Natural varianti1153 – 11531W → C in WD.
VAR_000769
Natural varianti1153 – 11531W → R in WD. 1 Publication
VAR_010018
Natural varianti1164 – 11641D → N in WD. 1 Publication
VAR_058931
Natural varianti1168 – 11681A → S in WD. 1 Publication
VAR_023034
Natural varianti1169 – 11691M → T in WD. 1 Publication
VAR_009023
Natural varianti1169 – 11691M → V in WD; moderate impairment in copper transport. 1 Publication
VAR_000770
Natural varianti1173 – 11731E → G in WD. 1 Publication
VAR_058932
Natural varianti1173 – 11731E → K in WD. 2 Publications
VAR_009024
Natural varianti1176 – 11761G → E in WD. 1 Publication
VAR_044478
Natural varianti1176 – 11761G → R in WD. 3 Publications
VAR_010019
Natural varianti1183 – 11831A → G in WD. 2 Publications
VAR_000771
Natural varianti1183 – 11831A → T in WD; unknown pathological significance; no effect on copper transport activity. 2 Publications
VAR_000772
Natural varianti1186 – 11861G → C in WD.
VAR_000773
Natural varianti1186 – 11861G → S in WD; unknown pathological significance; no effect on copper transport activity. 5 Publications
VAR_000774
Natural varianti1213 – 12131G → V in WD; loss of copper transport activity; no effect on ATPase activity. 2 Publications
VAR_000775
Natural varianti1216 – 12172Missing in WD. 1 Publication
VAR_000777
Natural varianti1216 – 12161V → M in WD. 3 Publications
VAR_000776
Natural varianti1217 – 12182Missing in WD. 1 Publication
VAR_044479
Natural varianti1220 – 12201T → M in WD. 1 Publication
VAR_000778
Natural varianti1221 – 12211G → E in WD. 1 Publication
VAR_044480
Natural varianti1222 – 12221D → N in WD. 1 Publication
VAR_044481
Natural varianti1222 – 12221D → V in WD; decreased copper transport activity; loss of ATPase activity. 2 Publications
VAR_010020
Natural varianti1222 – 12221D → Y in WD.
VAR_000779
Natural varianti1228 – 12281R → T in WD. 1 Publication
VAR_058933
Natural varianti1230 – 12301I → V in WD. 1 Publication
Corresponds to variant rs200911496 [ dbSNP | Ensembl ].
VAR_058934
Natural varianti1232 – 12321T → P in WD. 2 Publications
VAR_023035
Natural varianti1239 – 12391V → G in WD.
VAR_009026
Natural varianti1245 – 12451P → T in WD. 1 Publication
VAR_075340
Natural varianti1248 – 12481K → N in WD. 1 Publication