ATP7A transports cytosolic Cu2+ to extracellular region

Stable Identifier
R-HSA-936802
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Synonyms
Copper export from cells by copper-transporting ATPase1
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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
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
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
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
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
copper transmembrane transporter activity, phosphorylative mechanism of ATP7A:PDZD11 [plasma membrane]
Physical Entity
Activity
Orthologous Events
Authored
Reviewed
Created