ATP7B Gene Summary [Human]
This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
Details
| Type | Processed Transcript |
| Official Symbol | ATP7B |
| Official Name | ATPase copper transporting beta [Source:HGNC Symbol;Acc:HGNC:870] |
| Ensembl ID | ENSG00000123191 |
| Bio databases IDs | |
| Aliases | ATPase copper transporting beta, Wilson disease, copper pump 2, copper-transporting ATPase 2 |
| Synonyms | Atp7a, ATPase copper transporting beta, ATPase, copper transporting, beta polypeptide, ATPase copper transporting β, ATPase, copper transporting, β polypeptide, Hts, PINA, PWD, tx, WC1, WD, WND |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ATP7B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATP-binding domain
- ATP binding
- heavy metal translocating P-type ATPase
- E1-E2 ATPase
- copper-(or silver)-translocating P-type ATPase
- nucleotide-binding domain
- metal binding domain
- copper ion binding
- zinc ion binding
- cytoplasmic domain
- copper binding domain
- haloacid dehalogenase-like hydrolase
- cation-transporting ATPase
- Heavy-metal-associated domain
- heavy metal-(Cd/Co/Hg/Pb/Zn)-translocating P-type ATPase
- protein binding
- P-type ATPase of unknown pump specificity (type V)
- GMXCXXC motif
- ATPase, P-type (transporting), HAD superfamily, subfamily IC
- copper ion transporter
- copper ion binding protein
- P-type ATPase
- transmembrane domain
- Haloacid Dehalogenase-like Hydrolases
- HMA
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Wilson disease
- hereditary disorder
- obesity
- liver cirrhosis
- lung adenocarcinoma
- lung adenocarcinoma formation
- growth failure
- hereditary spastic ataxia
- sensory neuropathy
- hypoglycemia
role in cell
- binding in
- cell death
- survival
- production in
- phosphorylation in
- cell viability
- response by
- homeostasis in
- interaction in
- retention in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum fraction
- Golgi-enriched fraction
- intracellular space
- apical compartment
- perinuclear region
- cellular membrane
- Plasma Membrane
- vesicles
- Golgi Apparatus
- Mitochondria
- intercellular junctions
- cytosol
- apical membrane
- basolateral membrane
- Golgi membrane
- trans Golgi network
- late endosomes
- perinuclear vesicles
- cytoplasmic vesicles
- tight junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATP7B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- copper ion transport
- cellular copper ion homeostasis
- copper ion export
- ion transmembrane transport
- intracellular copper ion transport
- response to copper ion
- cellular zinc ion homeostasis
- sequestering of calcium ion
- lactation
- establishment of localization in cell
- copper ion import
Cellular Component
Where in the cell the gene product is active
- trans-Golgi network
- perinuclear region of cytoplasm
- mitochondrion
- membrane
- late endosome
- cytoplasmic vesicle
- Golgi membrane
- Golgi apparatus
- basolateral plasma membrane
- plasma membrane
- trans-Golgi network membrane
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding
- copper ion binding
- copper-transporting ATPase activity
- copper ion transmembrane transporter activity