NP_000043.4
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
11,522 Da
NCBI Official Full Name
copper-transporting ATPase 1 isoform 1
NCBI Official Synonym Full Names
ATPase, Cu++ transporting, alpha polypeptide
NCBI Protein Information
copper-transporting ATPase 1; copper pump 1; Cu++-transporting P-type ATPase; Menkes disease-associated protein
UniProt Protein Name
Copper-transporting ATPase 1
UniProt Synonym Protein Names
Copper pump 1; Menkes disease-associated protein
UniProt Synonym Gene Names
UniProt Entry Name
ATP7A_HUMAN
NCBI Summary for ATP7A
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]
UniProt Comments for ATP7A
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: Membrane protein, multi-pass; EC 3.6.3.54; Transporter; Chaperone; Membrane protein, integral; Apoptosis; Cell development/differentiation; Hydrolase; Transporter, ion channel; Vesicle
Chromosomal Location of Human Ortholog: Xq21.1
Cellular Component: Golgi apparatus; neuron projection; basolateral plasma membrane; brush border membrane; endoplasmic reticulum; integral to membrane; trans-Golgi network; cytosol; secretory granule; trans-Golgi network transport vesicle; cell soma; membrane; perinuclear region of cytoplasm; late endosome; plasma membrane
Molecular Function: copper ion transmembrane transporter activity; protein binding; copper ion binding; copper-exporting ATPase activity; superoxide dismutase copper chaperone activity; copper-dependent protein binding; ATP binding
Biological Process: skin development; positive regulation of catalytic activity; extracellular matrix organization and biogenesis; collagen fibril organization; catecholamine metabolic process; dopamine metabolic process; norepinephrine biosynthetic process; tryptophan metabolic process; plasma membrane copper ion transport; negative regulation of neuron apoptosis; central nervous system neuron development; positive regulation of oxidoreductase activity; mitochondrion organization and biogenesis; release of cytochrome c from mitochondria; response to iron(III) ion; dendrite morphogenesis; detoxification of copper ion; ATP metabolic process; elastic fiber assembly; response to reactive oxygen species; regulation of gene expression; response to zinc ion; regulation of oxidative phosphorylation; cerebellar Purkinje cell differentiation; copper ion import; alveolus development; lactation; removal of superoxide radicals; pyramidal neuron development; locomotory behavior; norepinephrine metabolic process; peptidyl-lysine modification; epinephrine metabolic process; transmembrane transport; serotonin metabolic process; blood vessel development; negative regulation of metalloenzyme activity; hair follicle morphogenesis; cellular copper ion homeostasis; T-helper cell differentiation; in utero embryonic development; tyrosine metabolic process; positive regulation of metalloenzyme activity; copper ion transport; elastin biosynthetic process; pigmentation; cartilage development; blood vessel remodeling; copper ion export; neurite morphogenesis
Disease: Occipital Horn Syndrome; Menkes Disease; Spinal Muscular Atrophy, Distal, X-linked 3
Research Articles on ATP7A
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Products associated with ATP7A elisa kit
Pathways associated with ATP7A elisa kit
Diseases associated with ATP7A elisa kit
Organs/Tissues associated with ATP7A elisa kit
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