ATP7A
Sign in to saveAlso known as MNK, DSMAX, MK, SMAX3, ATPase copper transporting alpha
ATP7A, also known as '''Menkes' protein (MNK'), is a copper-transporting P-type ATPase which uses the energy arising from ATP hydrolysis to transport Cu(I) across cell membranes. The ATP7A protein is a transmembrane protein and is expressed in the intestine and all tissues except liver. In the intestine, ATP7A regulates Cu(I) absorption in the human body by transporting Cu(I) from the small intestine into the blood. In other tissues, ATP7A shuttles between the Golgi apparatus and the cell membrane to maintain proper Cu(I) concentrations (since there is no free Cu(I) in the cell, Cu(I) ions are
In the Vinony graph
Within Vinony's link graph, ATP7A is referenced by 301 other articles, and connects out to PubMed, X chromosome and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome X.
Its subject is documented across 4 Wikipedia language editions.
Gene data
ATP7A- Name
- ATPase copper transporting alpha
- Type
- protein-coding
- Chromosome
- X
- Position
- 77,910,688–78,050,395 (+)
- Aliases
- DSMAX, HMNX, MK, MNK, SMAX3
- Ensembl
- ENSG00000165240
- RefSeq RNA
- NM_000052.7, NM_001282224.2, NR_104109.2
- RefSeq protein
- NP_000043.4, NP_001269153.1
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 Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
ATPase copper transporting alpha
- Symbol
- ATP7A
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:77,910,688-78,050,395
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein ATP7A PDB 1aw0.png
Show 8 more facts
- HomoloGene ID
- 35
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/538
- chromosome
- human X chromosome
- genomic start
- 77910690
- genomic end
- 77305892
- cytogenetic location
- Xq21.1
- Commons category
- Menkes copper-transporting ATPase
Sources (7)
via Wikidata · CC0
~9 min read
Encyclopedic overview
12 sectionsContents
- Gene
- Structure
- Conformational change
- Transport mechanism
- Function
- Interactions
- Clinical significance
- Inhibition
- See also
- References
- Further reading
- External links
ATP7A, also known as '''Menkes' protein (MNK'), is a copper-transporting P-type ATPase which uses the energy arising from ATP hydrolysis to transport Cu(I) across cell membranes. The ATP7A protein is a transmembrane protein and is expressed in the intestine and all tissues except liver. In the intestine, ATP7A regulates Cu(I) absorption in the human body by transporting Cu(I) from the small intestine into the blood. In other tissues, ATP7A shuttles between the Golgi apparatus and the cell membrane to maintain proper Cu(I) concentrations (since there is no free Cu(I) in the cell, Cu(I) ions are all tightly bound) in the cell and provides certain enzymes with Cu(I) (e.g. peptidyl-α-monooxygenase, tyrosinase, and lysyl oxidase). The X-linked, inherited, lethal genetic disorder of the ATP7A gene causes Menkes disease, a copper deficiency resulting in early childhood death.
== Gene ==
Excerpted from Wikipedia’s “ATP7A” article, available under the CC BY-SA 4.0 licence.