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Gene: ATP7A (ATPase copper transporting alpha) Homo sapiens
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Symbol: ATP7A
Name: ATPase copper transporting alpha
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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATPase, Cu++ transporting, alpha polypeptide; ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome); copper pump 1; copper-transporting ATPase 1; Cu++-transporting P-type ATPase; DSMAX; FLJ17790; Menkes disease-associated protein; MK; MNK; SMAX3
Orthologs:
Mus musculus (house mouse) : Atp7a (ATPase, Cu++ transporting, alpha polypeptide)  MGI  Alliance
Rattus norvegicus (Norway rat) : Atp7a (ATPase copper transporting alpha)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Atp7a (ATPase copper transporting alpha)
Pan paniscus (bonobo/pygmy chimpanzee) : ATP7A (ATPase copper transporting alpha)
Canis lupus familiaris (dog) : ATP7A (ATPase copper transporting alpha)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Atp7a (ATPase copper transporting alpha)
Sus scrofa (pig) : ATP7A (ATPase copper transporting alpha)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X77,910,656 - 78,050,395 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X77,166,194 - 77,305,892 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X77,052,876 - 77,192,208 (+)NCBINCBI36hg18NCBI36
Build 34X76,972,343 - 77,111,584NCBI
CeleraX77,407,059 - 77,546,975 (+)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX70,752,187 - 70,892,316 (+)NCBIHuRef
CHM1_1X77,058,841 - 77,198,586 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ATP7A
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 10216
Created: 2000-05-25
Species: Homo sapiens
Last Modified: 2019-07-30
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.