ATP7A information

ATP7A
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1AW0, 1KVI, 1KVJ, 1Q8L, 1S6O, 1S6U, 1Y3J, 1Y3K, 1YJR, 1YJT, 1YJU, 1YJV, 2G9O, 2GA7, 2K1R, 2KIJ, 2KMV, 2KMX, 3CJK
Identifiers
Aliases	ATP7A, DSMAX, MK, MNK, SMAX3, ATPase copper transporting alpha
External IDs	OMIM: 300011; MGI: 99400; HomoloGene: 35; GeneCards: ATP7A; OMA:ATP7A - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	78,050,395 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	105,168,532 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; trabecular bone; ; skin of thigh; ; germinal epithelium; ; corpus epididymis; ; tibia; ; Achilles tendon; ; parietal pleura; ; visceral pleura; ; skin of hip;
	Top expressed in
	Epithelium of choroid plexus; ; Rostral migratory stream; ; internal carotid artery; ; choroid plexus of fourth ventricle; ; external carotid artery; ; retinal pigment epithelium; ; vas deferens; ; left lung lobe; ; efferent ductule; ; iris;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; copper ion binding; metal ion binding; hydrolase activity; ATPase-coupled cation transmembrane transporter activity; copper ion transmembrane transporter activity; ATP binding; superoxide dismutase copper chaperone activity; copper-dependent protein binding; protein binding; chaperone binding; P-type divalent copper transporter activity; cuprous ion binding;
Cellular component	trans-Golgi network transport vesicle; cytoplasm; integral component of membrane; trans-Golgi network; Golgi apparatus; cytosol; neuron projection; membrane; neuronal cell body; endoplasmic reticulum; perinuclear region of cytoplasm; brush border membrane; basolateral plasma membrane; secretory granule; plasma membrane; nucleus; late endosome; microvillus; apical plasma membrane; phagocytic vesicle membrane; cell leading edge; perikaryon; membrane raft;
Biological process	norepinephrine metabolic process; response to iron(III) ion; removal of superoxide radicals; detoxification of copper ion; copper ion import; neuron projection morphogenesis; pyramidal neuron development; extracellular matrix organization; collagen fibril organization; dopamine metabolic process; T-helper cell differentiation; skin development; tryptophan metabolic process; response to zinc ion; regulation of oxidative phosphorylation; locomotory behavior; cartilage development; response to copper ion; positive regulation of oxidoreductase activity; pigmentation; serotonin metabolic process; ion transport; blood vessel development; mitochondrion organization; cerebellar Purkinje cell differentiation; elastic fiber assembly; central nervous system neuron development; cation transport; in utero embryonic development; ion transmembrane transport; lung alveolus development; blood vessel remodeling; peptidyl-lysine modification; catecholamine metabolic process; metal ion transport; hair follicle morphogenesis; plasma membrane copper ion transport; lactation; positive regulation of catalytic activity; epinephrine metabolic process; elastin biosynthetic process; cellular copper ion homeostasis; copper ion transport; negative regulation of catalytic activity; liver development; response to manganese ion; response to lead ion; regulation of gene expression; positive regulation of lamellipodium assembly; antimicrobial humoral response; negative regulation of iron ion transmembrane transport; cellular response to platelet-derived growth factor stimulus; positive regulation of cell size; positive regulation of epithelial cell proliferation; cellular response to amino acid stimulus; cellular response to antibiotic; cellular response to cadmium ion; cellular response to cobalt ion; cellular response to copper ion; cellular response to iron ion; cellular response to lead ion; cellular response to hypoxia; positive regulation of response to wounding; positive regulation of vascular associated smooth muscle cell migration; regulation of cytochrome-c oxidase activity; copper ion export; transport;
	Sources:Amigo / QuickGO
Orthologs
	538
	11977
	ENSG00000165240
	ENSMUSG00000033792
	Q04656
	Q64430
	NM_000052; NM_001282224
	NM_001109757; NM_009726
	NP_000043; NP_001269153
	NP_001103227; NP_033856
	Wikidata
View/Edit Human	View/Edit Mouse

ATP7A, also known as Menkes' protein (MNK), is a copper-transporting P-type ATPase which uses the energy arising from ATP hydrolysis to transport Cu(I) across cell membranes. The ATP7A protein is a transmembrane protein and is expressed in the intestine and all tissues except liver. In the intestine, ATP7A regulates Cu(I) absorption in the human body by transporting Cu(I) from the small intestine into the blood. In other tissues, ATP7A shuttles between the Golgi apparatus and the cell membrane to maintain proper Cu(I) concentrations (since there is no free Cu(I) in the cell, Cu(I) ions are all tightly bound) in the cell and provides certain enzymes with Cu(I) (e.g. peptidyl-α-monooxygenase, tyrosinase, and lysyl oxidase). The X-linked, inherited, lethal genetic disorder of the ATP7A gene causes Menkes disease, a copper deficiency resulting in early childhood death.^[5]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165240 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000033792 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Tümer Z, Møller LB, Horn N (1999). "Mutation Spectrum of ATP7A, the Gene Defective in Menkes Disease". Copper Transport and Its Disorders. Advances in Experimental Medicine and Biology. Vol. 448. pp. 83–95. doi:10.1007/978-1-4615-4859-1_7. ISBN 978-1-4613-7204-2. PMID 10079817.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000165240 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000033792 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10079817-5] Tümer Z, Møller LB, Horn N (1999). "Mutation Spectrum of ATP7A, the Gene Defective in Menkes Disease". Copper Transport and Its Disorders. Advances in Experimental Medicine and Biology. Vol. 448. pp. 83–95. doi:10.1007/978-1-4615-4859-1_7. ISBN 978-1-4613-7204-2. PMID 10079817.

ATP7A information

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