Rabbit anti-Human ATP7A Polyclonal Antibody

Uniprot Id

Q04656

Target Species

Human

Target Name

ATP7A

Target Full Name

Copper-transporting ATPase 1

Target Function

ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis. 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. 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. Upon elevated cytosolic copper concentrations, it relocalizes to the plasma membrane where it is responsible for the export of excess Cu(+) ions. 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. In the melanosomes of pigmented cells, provides copper cofactor to TYR to form an active TYR holoenzyme for melanin biosynthesis.

Target Involvement

Menkes disease (MNKD); Occipital horn syndrome (OHS); Distal spinal muscular atrophy, X-linked, 3 (DSMAX3)

Target Subcellular Location

Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Melanosome membrane; Multi-pass membrane protein. Early endosome membrane; Multi-pass membrane protein. Cell projection, axon. Cell projection, dendrite. Cell junction, synapse, postsynaptic density.; [Isoform 3]: Cytoplasm, cytosol.; [Isoform 5]: Endoplasmic reticulum.

Target Protein Families

Cation transport ATPase (P-type) (TC 3.A.3) family, Type IB subfamily

Target Tissue Specificity

Widely expressed including in heart, brain, lung, muscle, kidney, pancreas, and to a lesser extent placenta. Expressed in fibroblasts, aortic smooth muscle cells, aortic endothelial cells and umbilical vein endothelial cells (at protein level).; [Isoform

Target Synonyms

MK; MNK; DSMAX; SMAX3; ATP7A

Target Background

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.