Gene Information | |
---|---|
Gene Name | ATP7A |
Organism | Homo sapiens (Human) |
Gene Length | 1500 |
Protein Names | Copper-transporting ATPase 1 (EC 7.2.2.8) (Copper pump 1) (Menkes disease-associated protein) |
Target Name | NA |
Target Type | NA |
Gene Age | >4290 ( ENSG00000165240 ) |
Evolutionary Stage | Cellular_organisms |
AlphaFoldDB | Q04656 |
Gene Card | ATP7A |
Uniprot ID | Q04656 |
Pfam | PF00403 |
In ASD | no |
Allosteric Prediction | yes (0.205480496) |
Ortholog in Animals | Alpaca_ ATP7A ( ortholog_one2one ) Dog_ ATP7A ( ortholog_one2one ) GuineaPig_ ATP7A ( ortholog_one2one ) Macaque_ ATP7A ( ortholog_one2one ) Mouse_ Atp7a ( ortholog_one2one ) Pig_ ATP7A ( ortholog_one2one ) Rat_ Atp7a ( ortholog_one2one ) Rabbit_ ATP7A ( ortholog_one2one ) |
Ohnologs | ATP7B |
Paralogs | ATP2B4, ATP13A3, ATP2A3, ATP2B3, ATP1A3, ATP13A2, ATP2B2, ATP13A4, ATP7B, ATP13A5, ATP12A, ATP2B1, ATP1A4, ATP2C2, ATP1A1, ATP1A2, ATP2A1, ATP2A2, ATP4A, ATP2C1, ATP13A1 |
Tissue | NA |
Tissue Specificity | Widely 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 Models | NA |
Gene Ontology (biological process) |
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Gene Ontology (cellular component) |
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Gene Ontology (molecular function) |
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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 classification | NA |
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