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MT000065

UniProt Annotations

Entry Information

Gene Name	ATPase, Cu++ transporting, beta polypeptide
Protein Entry	ATP7B_HUMAN
UniProt ID	P35670
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=A; IsoId=P35670-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P35670-2; Sequence=VSP_000426, VSP_000427; Name=3; IsoId=P35670-3; Sequence=VSP_016559; Name=4; IsoId=P35670-4; Sequence=VSP_016560; Note=No experimental confirmation available.;
Catalytic Activity	ATP + H(2)O + Cu(+)(Side 1) = ADP + phosphate + Cu(+)(Side 2).
Disease	Wilson disease (WD) [MIM:277900]: 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. {ECO:0000269\|PubMed:10051024, ECO:0000269\|PubMed:10194254, ECO:0000269\|PubMed:10447265, ECO:0000269\|PubMed:10453196, ECO:0000269\|PubMed:10502776, ECO:0000269\|PubMed:10502777, ECO:0000269\|PubMed:10544227, ECO:0000269\|PubMed:10721669, ECO:0000269\|PubMed:10790207, ECO:0000269\|PubMed:11043508, ECO:0000269\|PubMed:11093740, ECO:0000269\|PubMed:11180609, ECO:0000269\|PubMed:11216666, ECO:0000269\|PubMed:11243728, ECO:0000269\|PubMed:11690702, ECO:0000269\|PubMed:11954751, ECO:0000269\|PubMed:12325021, ECO:0000269\|PubMed:12376745, ECO:0000269\|PubMed:12544487, ECO:0000269\|PubMed:14639035, ECO:0000269\|PubMed:14966923, ECO:0000269\|PubMed:14986826, ECO:0000269\|PubMed:15024742, ECO:0000269\|PubMed:15557537, ECO:0000269\|PubMed:15811015, ECO:0000269\|PubMed:15845031, ECO:0000269\|PubMed:15952988, ECO:0000269\|PubMed:15967699, ECO:0000269\|PubMed:16088907, ECO:0000269\|PubMed:16207219, ECO:0000269\|PubMed:16283883, ECO:0000269\|PubMed:17718866, ECO:0000269\|PubMed:18373411, ECO:0000269\|PubMed:21682854, ECO:0000269\|PubMed:7626145, ECO:0000269\|PubMed:8298641, ECO:0000269\|PubMed:8533760, ECO:0000269\|PubMed:8782057, ECO:0000269\|PubMed:8931691, ECO:0000269\|PubMed:8938442, ECO:0000269\|PubMed:8980283, ECO:0000269\|PubMed:9222767, ECO:0000269\|PubMed:9311736, ECO:0000269\|PubMed:9452121, ECO:0000269\|PubMed:9482578, ECO:0000269\|PubMed:9554743, ECO:0000269\|PubMed:9671269, ECO:0000269\|PubMed:9772425, ECO:0000269\|PubMed:9829905, ECO:0000269\|PubMed:9887381}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	Each HMA domain can bind a copper ion, they are tightly packed and closely interact with each other. Wild-type ATP7B can usually be loaded with an average 5.5 copper atoms per molecule. {ECO:0000269\|PubMed:20032459}.
Function	Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile.
Ptm	Isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form.
Sequence Caution	Sequence=AAA16173.1; Type=Frameshift; Positions=830; Evidence={ECO:0000305}; Sequence=AAA79211.1; Type=Frameshift; Positions=456; Evidence={ECO:0000305}; Sequence=AAA79212.1; Type=Frameshift; Positions=456; Evidence={ECO:0000305};
Similarity	Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily. {ECO:0000305}.
Similarity	Contains 6 HMA domains. {ECO:0000255\|PROSITE- ProRule:PRU00280}.
Subcellular Location	Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Note=Predominantly found in the trans-Golgi network (TGN). Not redistributed to the plasma membrane in response to elevated copper levels.
Subcellular Location	Isoform 1: Golgi apparatus membrane {ECO:0000269\|PubMed:9307043}; Multi-pass membrane protein {ECO:0000269\|PubMed:9307043}.
Subcellular Location	Isoform 2: Cytoplasm {ECO:0000269\|PubMed:9307043}.
Subcellular Location	WND/140 kDa: Mitochondrion.
Subunit	Monomer. Interacts with COMMD1/MURR1. Interacts with DCTN4, in a copper-dependent manner. Interacts with ATOX1. {ECO:0000269\|PubMed:12968035, ECO:0000269\|PubMed:16554302, ECO:0000269\|PubMed:18558714}.
Tissue Specificity	Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues.
Web Resource	Name=Wilson Disease Mutation Database; URL="http://www.medicalgenetics.med.ualberta.ca/wilson/index.php";