ATP7A Antibody – Goat Polyclonal

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]

ATP7A: a multi-pass membrane protein and cation transporting ATPase. A copper-transporter that may supply copper to copper-requiring proteins within the secretory pathway when localized in the trans-Golgi network. Cycles between the trans-Golgi network (TGN) and the plasma membrane. Predominantly found in the TGN and relocalizes to the plasma membrane in response to elevated extracellular copper levels where it functions in the efflux of copper from cells. Defects in ATP7A are the cause of Menkes syndrome (MD) and occipital horn syndrome (OHS). Six alternatively spliced isoforms have been described. The longest isoform has 6 transmembrane regions. Isoform 3, lacking all 6 transmembrane regions and 5 heavy-metal-associated (HMA) domains, is probably cytosolic. Isoform 6 lacks all transmembrane regions and 5 heavy-metal-associated (HMA) domains, but has a putative nuclear localization signal attached at the N-terminus.

Protein type: Apoptosis; Cell development/differentiation; Chaperone; EC 3.6.3.54; Hydrolase; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel; Vesicle

Chromosomal Location of Human Ortholog: Xq21.1

Cellular Component: basolateral plasma membrane; cell soma; Golgi apparatus; integral to plasma membrane; late endosome; membrane; neuron projection; perinuclear region of cytoplasm; plasma membrane; trans-Golgi network; trans-Golgi network transport vesicle

Molecular Function: ATP binding; copper ion binding; copper ion transmembrane transporter activity; copper-dependent protein binding; copper-exporting ATPase activity; protein binding; superoxide dismutase copper chaperone activity

Biological Process: alveolus development; blood vessel development; blood vessel remodeling; cartilage development; catecholamine metabolic process; cellular copper ion homeostasis; central nervous system neuron development; cerebellar Purkinje cell differentiation; collagen fibril organization; copper ion export; copper ion import; copper ion transport; detoxification of copper ion; dopamine metabolic process; elastic fiber assembly; elastin biosynthetic process; epinephrine metabolic process; extracellular matrix organization and biogenesis; hair follicle morphogenesis; locomotory behavior; mitochondrion organization and biogenesis; negative regulation of catalytic activity; neurite morphogenesis; norepinephrine metabolic process; peptidyl-lysine modification; pigmentation; positive regulation of catalytic activity; positive regulation of oxidoreductase activity; pyramidal neuron development; regulation of oxidative phosphorylation; removal of superoxide radicals; serotonin metabolic process; skin development; T-helper cell differentiation; tryptophan metabolic process

Disease: Menkes Disease; Occipital Horn Syndrome; Spinal Muscular Atrophy, Distal, X-linked 3