Gene

ATP7A

Species
Homo sapiens
Symbol
ATP7A
Name
ATPase copper transporting alpha
Synonyms
  • ATPase, Cu++ transporting, alpha polypeptide
  • ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)
Biotype
protein coding gene
Automated Description
Enables several functions, including ATP binding activity; P-type monovalent copper transporter activity; and copper-dependent protein binding activity. Involved in several processes, including copper ion export; positive regulation of melanin biosynthetic process; and positive regulation of tyrosinase activity. Located in several cellular components, including basolateral plasma membrane; cytoplasmic vesicle; and trans-Golgi network. Implicated in Menkes disease; X-linked distal spinal muscular atrophy 3; cutis laxa; and occipital horn syndrome.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR43520
No data available
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

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None
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    Disease Associations

    Cases where the expected disease association was NOT found
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            77.92M77.94M77.96M77.98M78.00M78.02M78.04M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            ATP7A molecule type
            Interactor gene
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              Genetic Interactions

              ATP7A role
              ATP7A genetic perturbation
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