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]

Description

ATPase copper transporting alpha

Tissue specificity

Low tissue specificity

Subcell location

Golgi apparatus

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Transporters

Chromosome

X (77910656 - 78050395)

Ensembl ID

ENSG00000165240  (ver. 103.38)

Orthologs

Mouse Atp7a: ENSMUSG00000033792

UniProt

Q04656

neXtProt

NX_Q04656

Human splice variants
Mouse splice variants

Protein structure