InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATP7B

Summary

InnateDB Protein

IDBP-228389.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATP7B

Protein Name

ATPase, Cu++ transporting, beta polypeptide

Synonyms

PWD; WC1; WD; WND;

Species

Homo sapiens

Ensembl Protein

ENSP00000383217

InnateDB Gene

IDBG-34798 (ATP7B)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

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.Isoform 1: Golgi apparatus membrane {ECO:0000269PubMed:9307043}; Multi-pass membrane protein {ECO:0000269PubMed:9307043}.Isoform 2: Cytoplasm {ECO:0000269PubMed:9307043}.WND/140 kDa: Mitochondrion.

Disease Associations

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:0000269PubMed:10051024, ECO:0000269PubMed:10194254, ECO:0000269PubMed:10447265, ECO:0000269PubMed:10453196, ECO:0000269PubMed:10502776, ECO:0000269PubMed:10502777, ECO:0000269PubMed:10544227, ECO:0000269PubMed:10721669, ECO:0000269PubMed:10790207, ECO:0000269PubMed:11043508, ECO:0000269PubMed:11093740, ECO:0000269PubMed:11180609, ECO:0000269PubMed:11216666, ECO:0000269PubMed:11243728, ECO:0000269PubMed:11690702, ECO:0000269PubMed:11954751, ECO:0000269PubMed:12325021, ECO:0000269PubMed:12376745, ECO:0000269PubMed:12544487, ECO:0000269PubMed:14639035, ECO:0000269PubMed:14966923, ECO:0000269PubMed:14986826, ECO:0000269PubMed:15024742, ECO:0000269PubMed:15557537, ECO:0000269PubMed:15811015, ECO:0000269PubMed:15845031, ECO:0000269PubMed:15952988, ECO:0000269PubMed:15967699, ECO:0000269PubMed:16088907, ECO:0000269PubMed:16207219, ECO:0000269PubMed:16283883, ECO:0000269PubMed:17718866, ECO:0000269PubMed:18373411, ECO:0000269PubMed:21682854, ECO:0000269PubMed:7626145, ECO:0000269PubMed:8298641, ECO:0000269PubMed:8533760, ECO:0000269PubMed:8782057, ECO:0000269PubMed:8931691, ECO:0000269PubMed:8938442, ECO:0000269PubMed:8980283, ECO:0000269PubMed:9222767, ECO:0000269PubMed:9311736, ECO:0000269PubMed:9452121, ECO:0000269PubMed:9482578, ECO:0000269PubMed:9554743, ECO:0000269PubMed:9671269, ECO:0000269PubMed:9772425, ECO:0000269PubMed:9829905, ECO:0000269PubMed:9887381}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	14 [view]
Protein-Protein	13 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0004008	copper-exporting ATPase activity
GO:0005507	copper ion binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0019829	cation-transporting ATPase activity
GO:0046872	metal ion binding

Biological Process

GO:0006812	cation transport
GO:0006825	copper ion transport
GO:0006878	cellular copper ion homeostasis
GO:0008152	metabolic process
GO:0015677	copper ion import
GO:0030001	metal ion transport
GO:0034220	ion transmembrane transport
GO:0046688	response to copper ion
GO:0051208	sequestering of calcium ion
GO:0055085	transmembrane transport

Cellular Component

GO:0000139	Golgi membrane
GO:0005739	mitochondrion
GO:0005770	late endosome
GO:0005802	trans-Golgi network
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0016323	basolateral plasma membrane
GO:0048471	perinuclear region of cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR001757 Cation-transporting P-type ATPase
IPR006121 Heavy metal-associated domain, HMA
IPR006122 Heavy metal-associated domain, copper ion-binding
IPR008250 P-type ATPase, A domain
IPR023214 HAD-like domain
IPR027256 Cation-transporting P-type ATPase, subfamily IB

PFAM

PF00403
PF00122
PF00702
PF08282
PF13419

PRINTS

PR00119
PR00120
PR00941

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P35670