Atp7a Gene Summary [Mouse]
Enables P-type divalent copper transporter activity and superoxide dismutase copper chaperone activity. Involved in copper ion export and intracellular copper ion homeostasis. Acts upstream of or within several processes, including catecholamine metabolic process; erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process; and neuron differentiation. Located in several cellular components, including cytoplasmic vesicle membrane; neuronal cell body; and trans-Golgi network membrane. Is expressed in several structures, including genitourinary system; gut mucosa; liver; nervous system; and spleen. Used to study Menkes disease; X-linked distal spinal muscular atrophy 3; aortic aneurysm; and osteoarthritis. Human ortholog(s) of this gene implicated in Menkes disease; X-linked distal spinal muscular atrophy 3; cutis laxa; and occipital horn syndrome. Orthologous to human ATP7A (ATPase copper transporting alpha). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Atp7a |
| Official Name | ATPase, Cu++ transporting, alpha polypeptide [Source:MGI Symbol;Acc:MGI:99400] |
| Ensembl ID | ENSMUSG00000033792 |
| Bio databases IDs | |
| Aliases | ATPase, Cu++ transporting, alpha polypeptide |
| 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 | Mouse, Mus musculus |
| 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 mouse 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
phenotypes
- abnormal coat/ hair morphology
- abnormal coat/hair pigmentation
- abnormal vocalization
- abnormal Ammon gyrus morphology
- abnormal Purkinje cell morphology
- abnormal aorta elastic fiber morphology
- abnormal aorta morphology
- abnormal aortic weight
- abnormal autopod morphology
- abnormal awl hair morphology
- abnormal breathing pattern
- abnormal cartilage morphology
- abnormal cell morphology
- abnormal cell physiology
- abnormal cerebellar granule layer morphology
- abnormal cerebral cortex morphology
- abnormal coat appearance
- abnormal copper homeostasis
- abnormal copper level
- abnormal cutaneous collagen fibril morphology
- abnormal enzyme/coenzyme activity
- abnormal gait
- abnormal hair shaft melanin granule morphology
- abnormal hair shaft morphology
- abnormal hair texture
- abnormal hindlimb morphology
- abnormal ion homeostasis
- abnormal large intestine morphology
- abnormal limb bone morphology
- abnormal liver copper level
- abnormal mitochondrial physiology
- abnormal motor capabilities/coordination/movement
- abnormal noradrenaline level
- abnormal pH regulation
- abnormal pectoral girdle bone morphology
- abnormal pelvic girdle bone morphology
- abnormal postnatal growth
- abnormal pulmonary alveolus morphology
- abnormal pulmonary interalveolar septum morphology
- abnormal renal tubule morphology
- abnormal respiratory system physiology
- abnormal rib morphology
- abnormal skeletal muscle fiber morphology
- abnormal skeleton morphology
- abnormal skin condition
- abnormal survival
- abnormal vertebrae morphology
- abnormal vibrissa morphology
- abnormal visceral yolk sac morphology
- abnormal vitelline vascular remodeling
- abnormal vitelline vasculature morphology
- abnormal zigzag hair morphology
- absent coat pigmentation
- absent vibrissae
- aneurysm
- aorta dilation
- aortic aneurysm
- ascending aorta dilation
- ataxia
- cachexia
- calcified tendon
- clubfoot
- coarse hair
- curly vibrissae
- decreased aorta elastin content
- decreased body size
- decreased brain copper level
- decreased brainstem copper level
- decreased circulating ceruloplasmin level
- decreased circulating copper level
- decreased creatine kinase activity
- decreased creatine level
- decreased kidney weight
- decreased litter size
- decreased liver copper level
- decreased noradrenaline level
- decreased renal glomerulus number
- decreased skin tensile strength
- decreased spleen weight
- decreased susceptibility to prion infection
- dilated pulmonary alveolar ducts
- dilated respiratory conducting tubes
- diluted coat color
- embryonic lethality during organogenesis complete penetrance
- enlarged lung
- female infertility
- hemoperitoneum
- hemorrhage
- hemothorax
- hindlimb paralysis
- hunched posture
- hypoactivity
- impaired balance
- impaired coordination
- impaired limb coordination
- increased brain apoptosis
- increased brain copper level
- increased intestine copper level
- increased kidney copper level
- increased lung compliance
- increased neuron apoptosis
- increased skeletal muscle fiber diameter
- increased total lung capacity
- irregular coat pigmentation
- kinked vibrissae
- lethality throughout fetal growth and development
- lethality throughout fetal growth and development incomplete penetrance
- lethargy
- male infertility
- mosaic coat color
- mottled coat
- osteoarthritis
- oxidative stress
- pale yolk sac
- paresis
- perinatal lethality complete penetrance
- perinatal lethality incomplete penetrance
- postnatal growth retardation
- postnatal lethality
- postnatal lethality complete penetrance
- postnatal lethality incomplete penetrance
- premature death
- prenatal lethality
- prenatal lethality complete penetrance
- prenatal lethality incomplete penetrance
- preweaning lethality complete penetrance
- preweaning lethality incomplete penetrance
- priapism
- tonic seizures
- tremors
- variable depigmentation
- variegated coat color
- waved hair
- wavy vibrissae
- weight loss
- wide ribs
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 mouse 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