ATP7A Gene Summary [Human]
This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
Details
| Type | Protein Coding |
| Official Symbol | ATP7A |
| Official Name | ATPase copper transporting alpha [Source:HGNC Symbol;Acc:HGNC:869] |
| Ensembl ID | ENSG00000165240 |
| Bio databases IDs | |
| Aliases | ATPase copper transporting alpha, copper pump 1, copper-transporting ATPase 1 |
| Synonyms | ATPase copper transporting alpha, ATPase, copper transporting, alpha polypeptide, ATPase copper transporting α, ATPase, copper transporting, α polypeptide, Copper Transporting ATPase, DSMAX, HMNX, MK, MNK, OHS, SMAX3 |
| 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 ATP7A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- magnesium-translocating P-type ATPase
- ATP binding
- mercuric transport protein periplasmic component
- heavy metal translocating P-type ATPase
- E1-E2 ATPase
- copper-(or silver)-translocating P-type ATPase
- superoxide dismutase copper chaperone
- nucleotide-binding domain
- copper ion binding
- H+/K+-exchanging ATPase
- chaperone binding
- haloacid dehalogenase-like hydrolase
- cation-transporting ATPase
- Heavy-metal-associated domain
- heavy metal-(Cd/Co/Hg/Pb/Zn)-translocating P-type ATPase
- enzyme binding
- protein binding
- GMXCXXC motif
- ATPase, P-type (transporting), HAD superfamily, subfamily IC
- copper ion transporter
- copper ion binding protein
- P-type ATPase
- cytosolic tail 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
- epithelial neoplasia
- hereditary disorder
- Menkes kinky hair syndrome
- biliary tract cancer
- X-linked cutis laxa
- liver cancer
- epithelial cancer
- metastasis
- cholangiocarcinoma cancer
- mild Menkes disease
role in cell
- proliferation
- expression in
- survival
- degradation in
- apoptosis
- assembly
- quantity
- differentiation
- migration
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Golgi region
- perinuclear region
- cellular membrane
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- apical membrane
- basolateral membrane
- Golgi membrane
- trans Golgi network
- endosomal membrane
- neurites
- early endosomes
- late endosomes
- cytoplasmic vesicles
- melanosomes
- secretory granules
- brush border
- microvilli
- cell membrane leading edge
- perikaryon
- axons
- dendrites
- phagosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATP7A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- norepinephrine metabolic process
- dopamine metabolic process
- copper ion export
- regulation of oxidative phosphorylation
- central nervous system neuron development
- skin development
- tryptophan metabolic process
- epinephrine metabolic process
- lung alveolus development
- cellular copper ion homeostasis
- in utero embryonic development
- pigmentation
- cellular response to hypoxia
- positive regulation of epithelial cell proliferation
- positive regulation of lamellipodium assembly
- detoxification of copper ion
- serotonin metabolic process
- cerebellar Purkinje cell differentiation
- cellular response to platelet-derived growth factor stimulus
- pyramidal neuron development
- cellular response to lead ion
- elastic fiber assembly
- positive regulation of catalytic activity
- removal of superoxide radicals
- hair follicle morphogenesis
- copper ion import
- cartilage development
- response to manganese ion
- response to iron(III) ion
- response to zinc ion
- neuron projection morphogenesis
- lactation
- catecholamine metabolic process
- cellular response to copper ion
- cellular response to iron ion
- copper ion homeostasis
- positive regulation of melanin biosynthetic process
- cellular response to amino acid stimulus
- locomotory behavior
- elastin biosynthetic process
- blood vessel development
- positive regulation of cell size
- liver development
- cellular response to cadmium ion
- cellular response to cobalt ion
- cellular response to antibiotic
- negative regulation of iron ion transmembrane transport
- female pregnancy
- mitochondrion organization
- copper ion transport
- T-helper cell differentiation
- blood vessel remodeling
- positive regulation of monophenol monooxygenase activity
- extracellular matrix organization
- collagen fibril organization
- peptidyl-lysine modification
Cellular Component
Where in the cell the gene product is active
- melanosome membrane
- postsynaptic density
- late endosome
- Golgi apparatus
- neuronal cell body
- perikaryon
- neuron projection
- dendrite
- trans-Golgi network
- microvillus
- cytosol
- axon
- trans-Golgi network membrane
- cell leading edge
- secretory granule
- trans-Golgi network transport vesicle
- endoplasmic reticulum
- plasma membrane
- early endosome membrane
- brush border membrane
- perinuclear region of cytoplasm
- membrane
- phagocytic vesicle membrane
- basolateral plasma membrane
- apical plasma 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
- chaperone binding
- small GTPase binding
- copper ion transmembrane transporter activity
- copper-dependent protein binding
- superoxide dismutase copper chaperone activity