Rabbit Copper-transporting ATPase 1 (ATP7A) ELISA Kit | ATP7A elisa kit

Rabbit Copper-transporting ATPase 1 (ATP7A) ELISA Kit

Cat. Num. AAA7223621

• Gene Names: ATP7A; MK; MNK; DSMAX; SMAX3
• Reactivity: Rabbit
• Synonyms: Copper-transporting ATPase 1 (ATP7A); Rabbit Copper-transporting ATPase 1 (ATP7A) ELISA Kit; ATP7A elisa kit

• Reactivity: Rabbit

• Samples: Serum, plasma, Cell Culture Supernatants, body fluid and tissue homogenate
• Preparation and Storage: Store all reagents at 2-8 degree C.

Product Categories/Family for ATP7A elisa kit

Signal Transduction

NCBI and Uniprot Product Information

• NCBI GI #: 532691750
• NCBI GeneID: 538
• NCBI Accession #: NP_000043.4
• NCBI GenBank Nucleotide #: NM_000052.6
• 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 Official Symbol: ATP7A
• NCBI Official Synonym Symbols: MK; MNK; DSMAX; SMAX3
• 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 Gene Name: ATP7A
• UniProt Synonym Gene Names: MC1; MNK
• UniProt Entry Name: ATP7A_HUMAN

NCBI Description

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 Description

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; Hydrolase; Transporter, ion channel; Cell development/differentiation; EC 3.6.3.54; Vesicle; Apoptosis; Membrane protein, integral; Chaperone; Transporter

Chromosomal Location of Human Ortholog: Xq21.1

Cellular Component: Golgi apparatus; neuron projection; basolateral plasma membrane; endoplasmic reticulum; brush border membrane; 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: positive regulation of catalytic activity; skin development; extracellular matrix organization and biogenesis; collagen fibril organization; catecholamine metabolic process; dopamine metabolic process; norepinephrine biosynthetic process; plasma membrane copper ion transport; tryptophan metabolic process; 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; response to zinc ion; regulation of gene expression; 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; cellular copper ion homeostasis; hair follicle morphogenesis; in utero embryonic development; T-helper cell differentiation; 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