Gene Information
Gene NameMC1
OrganismHomo sapiens (Human)
Gene Length1500
Protein NamesCopper-transporting ATPase 1 (EC 7.2.2.8) (Copper pump 1) (Menkes disease-associated protein)
Target NameNA
Target TypeNA
Gene AgeNA
Evolutionary StageNA
AlphaFoldDBQ04656
Gene CardATP7A
Uniprot IDQ04656
PfamPF00403
In ASDno
Allosteric PredictionNA
Ortholog in AnimalsNA
OhnologsNA
ParalogsNA
TissueNA
Tissue SpecificityWidely expressed including in heart, brain, lung, muscle, kidney, pancreas, and to a lesser extent placenta (PubMed:8490646, PubMed:8490659). Expressed in fibroblasts, aortic smooth muscle cells, aortic endothelial cells and umbilical vein endothelial cells (at protein level) (PubMed:16371425). {ECO:0000269|PubMed:16371425, ECO:0000269|PubMed:8490646, ECO:0000269|PubMed:8490659}.;
[Isoform 3]: Expressed in cerebellum and brain cortex. {ECO:0000269|PubMed:9693104}.
Pharmacological Animal ModelsNA
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB 1AW0  (NMR  -  )  1KVI  (NMR  -  )  1KVJ  (NMR  -  )  1Q8L  (NMR  -  )  1S6O  (NMR  -  )  1S6U  (NMR  -  )  1Y3J  (NMR  -  )  1Y3K  (NMR  -  )  1YJR  (NMR  -  )  1YJT  (NMR  -  )  1YJU  (NMR  -  )  1YJV  (NMR  -  )  2AW0  (NMR  -  )  2G9O  (NMR  -  )  2GA7  (NMR  -  )  2K1R  (NMR  -  )  2KIJ  (NMR  -  )  2KMV  (NMR  -  )  2KMX  (NMR  -  )  3CJK  (X-ray  1.80A  )  5T7L  (X-ray  2.83A  )  7LU8  (NMR  -  ) 
DBSNP rs72554639  rs151340631  rs797045344  rs2234935  rs2234936  rs72554642  rs72554644  rs797045350  rs2227291  rs367775730  rs72554646  rs267606673  rs1569550143  rs72554651  rs72554652  rs72554654  rs72554655  rs1557238588  rs72554657  rs151340632  rs797045390  rs4826245  rs267606672  rs2234938 
Subcellular location [CC]Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:10484781, ECO:0000269|PubMed:28389643, ECO:0000269|PubMed:9147644, ECO:0000269|PubMed:9467005};
Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:10484781, ECO:0000269|PubMed:28389643, ECO:0000269|PubMed:9147644};
Multi-pass membrane protein {ECO:0000255}. Melanosome membrane {ECO:0000250|UniProtKB:Q64430};
Multi-pass membrane protein {ECO:0000255}. Early endosome membrane {ECO:0000250|UniProtKB:Q64430};
Multi-pass membrane protein {ECO:0000255}. Cell projection, axon {ECO:0000250|UniProtKB:P70705}. Cell projection, dendrite {ECO:0000250|UniProtKB:P70705}. Postsynaptic density {ECO:0000250|UniProtKB:P70705}. Note=Cycles constitutively between the TGN and the plasma membrane (PubMed:9147644). Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels. Targeting into melanosomes is regulated by BLOC-1 complex (By similarity). In response to glutamate, translocates to neuron processes with a minor fraction at extrasynaptic sites (By similarity). {ECO:0000250|UniProtKB:P70705, ECO:0000250|UniProtKB:Q64430, ECO:0000269|PubMed:9147644}.;
[Isoform 3]: Cytoplasm, cytosol {ECO:0000305}.;
[Isoform 5]: Endoplasmic reticulum {ECO:0000269|PubMed:9467005}.
Mouse PG classificationNA
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