Mouse Anti-ATP7A Recombinant Antibody (CBFYM-0411) (CBMAB-M0519-FY)

ATPase Copper Transporting Alpha

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.

ATPase Copper Transporting Alpha; Copper Pump 1; ATPase, Cu++ Transporting, Alpha Polypeptide; Menkes Disease-Associated Protein; Copper-Transporting ATPase 1; MNK; Cu++-Transporting P-Type ATPase; Menkes Syndrome

ATP-driven copper (Cu+) ion pump that plays an important role in intracellular copper ion homeostasis (PubMed:10419525, PubMed:11092760, PubMed:28389643).
Within a catalytic cycle, acquires Cu+ ion from donor protein on the cytoplasmic side of the membrane and delivers it to acceptor protein on the lumenal side. The transfer of Cu+ ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state (PubMed:10419525, PubMed:19453293, PubMed:19917612, PubMed:31283225, PubMed:28389643).
Under physiological conditions, at low cytosolic copper concentration, it is localized at the trans-Golgi network (TGN) where it transfers Cu+ ions to cuproenzymes of the secretory pathway (PubMed:28389643, PubMed:11092760).
Upon elevated cytosolic copper concentrations, it relocalizes to the plasma membrane where it is responsible for the export of excess Cu+ ions (PubMed:10419525, PubMed:28389643).
May play a dual role in neuron function and survival by regulating cooper efflux and neuronal transmission at the synapse as well as by supplying Cu+ ions to enzymes such as PAM, TYR and SOD3 (PubMed:28389643) (By similarity).
In the melanosomes of pigmented cells, provides copper cofactor to TYR to form an active TYR holoenzyme for melanin biosynthesis (By similarity).

Antimicrobial humoral response Source: Reactome
Blood vessel development Source: UniProtKB
Blood vessel remodeling Source: UniProtKB
Cartilage development Source: UniProtKB
Catecholamine metabolic process Source: UniProtKB
Cellular copper ion homeostasis Source: UniProtKB
Cellular response to amino acid stimulus Source: Ensembl
Cellular response to antibiotic Source: Ensembl
Cellular response to cadmium ion Source: Ensembl
Cellular response to cobalt ion Source: Ensembl
Cellular response to copper ion Source: Ensembl
Cellular response to hypoxia Source: Ensembl
Cellular response to iron ion Source: Ensembl
Cellular response to lead ion Source: Ensembl
Cellular response to platelet-derived growth factor stimulus Source: Ensembl
Central nervous system neuron development Source: UniProtKB
Cerebellar Purkinje cell differentiation Source: UniProtKB
Collagen fibril organization Source: UniProtKB
Copper ion export Source: UniProtKB
Copper ion import Source: UniProtKB
Copper ion transport Source: UniProtKB
Detoxification of copper ion Source: UniProtKB
Dopamine metabolic process Source: UniProtKB
Elastic fiber assembly Source: UniProtKB
Elastin biosynthetic process Source: UniProtKB
Epinephrine metabolic process Source: UniProtKB
Extracellular matrix organization Source: UniProtKB
Female pregnancy Source: Ensembl
Hair follicle morphogenesis Source: UniProtKB
In utero embryonic development Source: Ensembl
Ion transmembrane transport Source: Reactome
Lactation Source: Ensembl
Liver development Source: Ensembl
Locomotory behavior Source: UniProtKB
Lung alveolus development Source: UniProtKB
Mitochondrion organization Source: UniProtKB
Negative regulation of iron ion transmembrane transport Source: Ensembl
Neuron projection morphogenesis Source: UniProtKB
Norepinephrine metabolic process Source: UniProtKB
Peptidyl-lysine modification Source: UniProtKB
Pigmentation Source: UniProtKB
Positive regulation of catalytic activity Source: UniProtKB
Positive regulation of cell size Source: Ensembl
Positive regulation of epithelial cell proliferation Source: Ensembl
Positive regulation of lamellipodium assembly Source: Ensembl
Positive regulation of melanin biosynthetic process Source: UniProtKB
Positive regulation of monophenol monooxygenase activity Source: UniProtKB
Positive regulation of oxidoreductase activity Source: UniProtKB
Positive regulation of response to wounding Source: Ensembl
Positive regulation of vascular associated smooth muscle cell migration Source: Ensembl
Pyramidal neuron development Source: UniProtKB
Regulation of cytochrome-c oxidase activity Source: Ensembl
Regulation of gene expression Source: Ensembl
Regulation of oxidative phosphorylation Source: UniProtKB
Removal of superoxide radicals Source: UniProtKB
Response to iron(III) ion Source: Ensembl
Response to manganese ion Source: Ensembl
Response to zinc ion Source: Ensembl
Serotonin metabolic process Source: UniProtKB
Skin development Source: UniProtKB
T-helper cell differentiation Source: UniProtKB
Tryptophan metabolic process Source: UniProtKB

Early endosome membrane; Cell membrane; Trans-Golgi network membrane; Melanosome membrane; Axon; Dendrite; Postsynaptic density. Cycles constitutively between the TGN and the plasma membrane (PubMed:9147644). Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels. Targeting into melanosomes is regulated by BLOC-1 complex (By similarity). In response to glutamate, translocates to neuron processes with a minor fraction at extrasynaptic sites (By similarity).
Isoform 3: Cytosol
Isoform 5: Endoplasmic reticulum

Menkes disease (MNK): An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate.
Occipital horn syndrome (OHS): An X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities include occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga.
Distal spinal muscular atrophy, X-linked, 3 (DSMAX3): A neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.

Cytoplasmic: 1-653 aa
Helical: 654-675 aa
Extracellular: 676-714 aa
Helical: 715-734 aa
Cytoplasmic: 735-741 aa
Helical: 742-762 aa
Extracellular: 763-781 aa
Helical: 782-802 aa
Cytoplasmic: 803-936 aa
Helical: 937-959 aa
Extracellular: 960-989 aa
Helical: 990-1011 aa
Cytoplasmic: 1012-1356 aa
Helical: 1357-1374 aa
Extracellular: 1375-1385 aa
Helical: 1386-1405 aa
Cytoplasmic: 1406-1500 aa