Reactome | ATP7A transports cytosolic Cu1+ to extracellular region

ATP7A transports cytosolic Cu1+ to extracellular region

Stable Identifier

R-HSA-936802

Type

Reaction [transition]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

Copper export from cells by copper-transporting ATPase1

ReviewStatus

5/5

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ATP7A transports cytosolic Cu1+ to extracellular region

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The human gene ATP7A (MNK) encodes the copper-transporting ATPase 1 (ATP7A, ATPase1, Menkes protein) which is expressed in most tissues except the liver (Vulpe et al, 1993; Chelly et al, 1993). Normally, ATP7A resides on the trans-Golgi membrane (Dierick et al, 1997). When cells are exposed to excessive copper levels, it is rapidly relocalized to the plasma membrane where it functions in copper efflux (Petris and Mercer, 1999). Defects in ATP7A are the cause of Menkes disease (MNKD), an X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency (Ambrosini and Mercer, 1999).

Literature References

PubMed ID	Title	Journal	Year
10401004	Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease Ambrosini, L, Mercer, JF	Hum Mol Genet	1999
9147644	Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network Dierick, HA, Adam, AN, Escara-Wilke, JF, Glover, TW	Hum Mol Genet	1997
8490646	Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein Chelly, J, Tümer, Z, Tønnesen, T, Petterson, A, Ishikawa-Brush, Y, Tommerup, N, Horn, N, Monaco, AP	Nat Genet	1993
10484781	The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal Petris, MJ, Mercer, JF	Hum Mol Genet	1999
8490659	Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase Vulpe, C, Levinson, B, Whitney, S, Packman, S, Gitschier, J	Nat Genet	1993