ATPase, Cu++ transporting, alpha polypeptide
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]
Gene aliases
DSMAX,
MK,
SMAX3
Chromosome
X
Map location
Xq21.1
Gene type
protein-coding
Gene Ontology (GO) terms enrichment
Database references
Statistics for ATP7A
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Sequence variants for ATP7A
List of cell lines/tissues that have ATP7A sequence variants
List of pathways where ATP7A is involved
| Pathway name | Pathway source |
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Protein-Protein Interaction Network for ATP7A
Network key
Number of sequence variations per gene
Protein identification for ATP7A
Browse by protein identification methods
| Identification method | Quantitative data available |
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