I. Expression across cell types
Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| microglial cell | 3 studies | 23% ± 3% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| microglial cell | 3 studies | 23% ± 3% |
Insufficient scRNA-seq data for expression of ATP7A at tissue level.
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| esophagus | 100% | 1214.50 | 1445 / 1445 | 100% | 8.72 | 183 / 183 |
| lung | 100% | 1243.83 | 578 / 578 | 99% | 7.57 | 1139 / 1155 |
| prostate | 100% | 995.04 | 245 / 245 | 98% | 9.54 | 494 / 502 |
| breast | 100% | 1253.98 | 459 / 459 | 97% | 10.09 | 1084 / 1118 |
| thymus | 100% | 1000.72 | 653 / 653 | 95% | 6.09 | 577 / 605 |
| skin | 100% | 2369.93 | 1809 / 1809 | 95% | 12.20 | 448 / 472 |
| stomach | 100% | 911.84 | 359 / 359 | 94% | 5.86 | 268 / 286 |
| adrenal gland | 100% | 1094.47 | 258 / 258 | 93% | 8.47 | 214 / 230 |
| pancreas | 98% | 591.41 | 323 / 328 | 94% | 5.54 | 168 / 178 |
| intestine | 100% | 884.19 | 966 / 966 | 90% | 4.72 | 472 / 527 |
| bladder | 100% | 1206.00 | 21 / 21 | 89% | 5.36 | 451 / 504 |
| kidney | 100% | 707.62 | 89 / 89 | 88% | 7.02 | 796 / 901 |
| uterus | 100% | 1005.54 | 170 / 170 | 87% | 4.91 | 399 / 459 |
| ovary | 100% | 898.25 | 180 / 180 | 79% | 3.51 | 341 / 430 |
| brain | 75% | 281.25 | 1986 / 2642 | 85% | 3.53 | 601 / 705 |
| blood vessel | 100% | 1191.18 | 1335 / 1335 | 0% | 0 | 0 / 0 |
| spleen | 100% | 991.55 | 241 / 241 | 0% | 0 | 0 / 0 |
| ureter | 0% | 0 | 0 / 0 | 100% | 2.39 | 1 / 1 |
| adipose | 100% | 1051.89 | 1203 / 1204 | 0% | 0 | 0 / 0 |
| liver | 74% | 210.61 | 168 / 226 | 25% | 1.02 | 102 / 406 |
| muscle | 98% | 456.79 | 789 / 803 | 0% | 0 | 0 / 0 |
| heart | 93% | 472.47 | 799 / 861 | 0% | 0 | 0 / 0 |
| peripheral blood | 91% | 1151.29 | 848 / 929 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 84% | 4.95 | 38 / 45 |
| eye | 0% | 0 | 0 / 0 | 75% | 4.43 | 60 / 80 |
| lymph node | 0% | 0 | 0 / 0 | 59% | 2.76 | 17 / 29 |
| abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| GO_0001974 | Biological process | blood vessel remodeling |
| GO_0006825 | Biological process | copper ion transport |
| GO_0043085 | Biological process | positive regulation of catalytic activity |
| GO_0010043 | Biological process | response to zinc ion |
| GO_0048023 | Biological process | positive regulation of melanin biosynthetic process |
| GO_0006584 | Biological process | catecholamine metabolic process |
| GO_0019430 | Biological process | removal of superoxide radicals |
| GO_0055070 | Biological process | copper ion homeostasis |
| GO_0042415 | Biological process | norepinephrine metabolic process |
| GO_0007626 | Biological process | locomotory behavior |
| GO_0015677 | Biological process | copper ion import |
| GO_0071236 | Biological process | cellular response to antibiotic |
| GO_0010042 | Biological process | response to manganese ion |
| GO_0001701 | Biological process | in utero embryonic development |
| GO_0071276 | Biological process | cellular response to cadmium ion |
| GO_0042417 | Biological process | dopamine metabolic process |
| GO_0007565 | Biological process | female pregnancy |
| GO_0042093 | Biological process | T-helper cell differentiation |
| GO_0032773 | Biological process | positive regulation of tyrosinase activity |
| GO_0050679 | Biological process | positive regulation of epithelial cell proliferation |
| GO_0042414 | Biological process | epinephrine metabolic process |
| GO_1903036 | Biological process | positive regulation of response to wounding |
| GO_0043473 | Biological process | pigmentation |
| GO_0001568 | Biological process | blood vessel development |
| GO_0021954 | Biological process | central nervous system neuron development |
| GO_0034760 | Biological process | negative regulation of iron ion transmembrane transport |
| GO_0048251 | Biological process | elastic fiber assembly |
| GO_0018205 | Biological process | peptidyl-lysine modification |
| GO_0006878 | Biological process | intracellular copper ion homeostasis |
| GO_0043588 | Biological process | skin development |
| GO_0051216 | Biological process | cartilage development |
| GO_0006568 | Biological process | tryptophan metabolic process |
| GO_0036120 | Biological process | cellular response to platelet-derived growth factor stimulus |
| GO_1904754 | Biological process | positive regulation of vascular associated smooth muscle cell migration |
| GO_0060003 | Biological process | copper ion export |
| GO_0021702 | Biological process | cerebellar Purkinje cell differentiation |
| GO_0021860 | Biological process | pyramidal neuron development |
| GO_0031069 | Biological process | hair follicle morphogenesis |
| GO_0001889 | Biological process | liver development |
| GO_0048812 | Biological process | neuron projection morphogenesis |
| GO_0051542 | Biological process | elastin biosynthetic process |
| GO_0007005 | Biological process | mitochondrion organization |
| GO_0071230 | Biological process | cellular response to amino acid stimulus |
| GO_0071281 | Biological process | cellular response to iron ion |
| GO_0030199 | Biological process | collagen fibril organization |
| GO_0071284 | Biological process | cellular response to lead ion |
| GO_0048286 | Biological process | lung alveolus development |
| GO_0010041 | Biological process | response to iron(III) ion |
| GO_0010592 | Biological process | positive regulation of lamellipodium assembly |
| GO_0030198 | Biological process | extracellular matrix organization |
| GO_0010273 | Biological process | detoxification of copper ion |
| GO_0071280 | Biological process | cellular response to copper ion |
| GO_0002082 | Biological process | regulation of oxidative phosphorylation |
| GO_0045793 | Biological process | positive regulation of cell size |
| GO_0007595 | Biological process | lactation |
| GO_0042428 | Biological process | serotonin metabolic process |
| GO_0071279 | Biological process | cellular response to cobalt ion |
| GO_0071456 | Biological process | cellular response to hypoxia |
| GO_0043025 | Cellular component | neuronal cell body |
| GO_0043005 | Cellular component | neuron projection |
| GO_0032588 | Cellular component | trans-Golgi network membrane |
| GO_0005802 | Cellular component | trans-Golgi network |
| GO_0033162 | Cellular component | melanosome membrane |
| GO_0016323 | Cellular component | basolateral plasma membrane |
| GO_0031901 | Cellular component | early endosome membrane |
| GO_0030425 | Cellular component | dendrite |
| GO_0005770 | Cellular component | late endosome |
| GO_0005902 | Cellular component | microvillus |
| GO_0005886 | Cellular component | plasma membrane |
| GO_0016020 | Cellular component | membrane |
| GO_0043204 | Cellular component | perikaryon |
| GO_0005794 | Cellular component | Golgi apparatus |
| GO_0031252 | Cellular component | cell leading edge |
| GO_0005783 | Cellular component | endoplasmic reticulum |
| GO_0014069 | Cellular component | postsynaptic density |
| GO_0030140 | Cellular component | trans-Golgi network transport vesicle |
| GO_0030424 | Cellular component | axon |
| GO_0030141 | Cellular component | secretory granule |
| GO_0031526 | Cellular component | brush border membrane |
| GO_0016324 | Cellular component | apical plasma membrane |
| GO_0048471 | Cellular component | perinuclear region of cytoplasm |
| GO_0005829 | Cellular component | cytosol |
| GO_0030670 | Cellular component | phagocytic vesicle membrane |
| GO_0005524 | Molecular function | ATP binding |
| GO_0032767 | Molecular function | copper-dependent protein binding |
| GO_0005375 | Molecular function | copper ion transmembrane transporter activity |
| GO_0016532 | Molecular function | superoxide dismutase copper chaperone activity |
| GO_0051087 | Molecular function | protein-folding chaperone binding |
| GO_0005507 | Molecular function | copper ion binding |
| GO_0005515 | Molecular function | protein binding |
| GO_0031267 | Molecular function | small GTPase binding |
| GO_0043682 | Molecular function | P-type divalent copper transporter activity |
| GO_0140581 | Molecular function | P-type monovalent copper transporter activity |
| GO_1903136 | Molecular function | cuprous ion binding |
| GO_0016887 | Molecular function | ATP hydrolysis activity |
| Gene name | ATP7A |
| Protein name | ATP7A protein P-type Cu(+) transporter (EC 7.2.2.8) Copper-transporting ATPase 1 (EC 7.2.2.8) (Copper pump 1) (Menkes disease-associated protein) ATPase copper transporting alpha |
| Synonyms | MNK MC1 |
| Description | FUNCTION: ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis . Within a catalytic cycle, acquires Cu(+) ion from donor protein on the cytoplasmic side of the membrane and delivers it to acceptor protein on the lumenal side. The transfer of Cu(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state . Under physiological conditions, at low cytosolic copper concentration, it is localized at the trans-Golgi network (TGN) where it transfers Cu(+) ions to cuproenzymes of the secretory pathway . Upon elevated cytosolic copper concentrations, it relocalizes to the plasma membrane where it is responsible for the export of excess Cu(+) ions . May play a dual role in neuron function and survival by regulating cooper efflux and neuronal transmission at the synapse as well as by supplying Cu(+) ions to enzymes such as PAM, TYR and SOD3 (By similarity). In the melanosomes of pigmented cells, provides copper cofactor to TYR to form an active TYR holoenzyme for melanin biosynthesis (By similarity). . |
| Accessions | ENST00000686050.1 A0A8I5KR00 ENST00000341514.11 [Q04656-1] ENST00000684798.1 ENST00000689731.1 ENST00000689767.1 ENST00000691152.1 ENST00000689872.1 A0A2R8YD60 ENST00000693398.1 A0A8J9FM07 ENST00000688338.1 ENST00000642651.1 ENST00000343533.10 ENST00000687416.1 ENST00000689649.1 ENST00000686464.1 ENST00000687599.1 ENST00000692908.1 [Q04656-5] ENST00000692110.1 A0A8I5QJP0 ENST00000686133.1 [Q04656-1] ENST00000686896.1 ENST00000692729.1 ENST00000687984.1 ENST00000689891.1 A0A8I5KPN6 A0A8I5KST1 A0A8I5KVT9 Q762B6 ENST00000645454.1 ENST00000686543.1 [Q04656-5] ENST00000687086.1 [Q04656-1] A0A8I5KXV0 A0A8I5QKR3 ENST00000685033.1 A0A8I5KQ07 ENST00000688889.1 ENST00000688165.1 A0A8I5KU46 Q04656 ENST00000686033.1 A0A8I5KWA8 ENST00000693387.1 ENST00000686480.1 ENST00000685264.1 [Q04656-1] ENST00000693167.1 A0A8I5KVB6 A0A8I5KY05 ENST00000693051.1 ENST00000685885.1 ENST00000686688.1 ENST00000688249.1 ENST00000645094.1 A0A8I5KZ63 A0A8I5KQ62 A0A8I5KWH1 ENST00000686560.1 ENST00000689530.1 |
