Tbio ATP7A Copper-transporting ATPase 1

Protein Summary

Description

May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells. 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]

Uniprot Accession IDs

• Q04656
• B1AT72
• O00227
• O00745
• Q9BYY8

Gene Name

• ATP7A

Ensembl ID

• ENST00000341514
• ENSP00000345728
• ENSG00000165240
• ENST00000343533
• ENSP00000343026

Symbol

• MC1
• MNK
• MK
• MNK
• DSMAX
• SMAX3

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	1
molecular function	1
protein domain	0.99
disease perturbation	0.9
disease	0.87

Protein Classes

PANTHER Classes

Protein / Transporter / Ion Channel / Copper-transporting Atpase 1

Protein / Transporter / Cation Transporter / Copper-transporting Atpase 1

Protein / Hydrolase / Copper-transporting Atpase 1

DTO Classes

Protein / Transporter / P-type Atpases / Cu+-atpases / Copper-transporting Atpase 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1927.71   (req: < 5)

Gene RIFs: 119   (req: <= 3)

Antibodies: 369   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1927.71   (req: >= 5)

Gene RIFs: 119   (req: > 3)

Antibodies: 369   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 68

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0