| URN | urn:agi-llid:538 |
|---|---|
| Total Entities | 0 |
| Connectivity | 166 |
| Name | Atp7a |
| Description | ATPase, Cu++ transporting, alpha polypeptide |
| Notes | 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 cutis laxa, and occipital horn syndrome. [provided by RefSeq, Oct 2011] |
| Ariadne Ontology | Me++ homeostasis |
|---|---|
| Secreted proteins | |
| Biofluids assayable substances |
| GO Molecular Function | catalytic activity |
|---|---|
| copper-dependent protein binding | |
| nucleotide binding | |
| ATP binding | |
| metal ion binding | |
| copper ion binding | |
| superoxide dismutase copper chaperone activity | |
| hydrolase activity | |
| ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism | |
| copper-transporting ATPase activity | |
| copper-exporting ATPase activity | |
| copper ion transmembrane transporter activity |
| GO Cellular Component | membrane |
|---|---|
| trans-Golgi network transport vesicle | |
| basolateral plasma membrane | |
| brush border membrane | |
| integral to membrane | |
| plasma membrane | |
| perinuclear region of cytoplasm | |
| cytoplasmic vesicle | |
| cytosol | |
| endoplasmic reticulum | |
| Golgi apparatus | |
| late endosome | |
| secretory granule | |
| trans-Golgi network | |
| neuron projection | |
| neuronal cell body |
| GO Biological Process | metabolic process |
|---|---|
| transmembrane transport | |
| regulation of oxidative phosphorylation | |
| negative regulation of neuron apoptotic process | |
| neuron projection morphogenesis | |
| dendrite morphogenesis | |
| central nervous system neuron development | |
| pyramidal neuron development | |
| T-helper cell differentiation | |
| cerebellar Purkinje cell differentiation | |
| ATP biosynthetic process | |
| ATP catabolic process | |
| ATP metabolic process | |
| tryptophan metabolic process | |
| serotonin metabolic process | |
| removal of superoxide radicals | |
| tyrosine metabolic process | |
| norepinephrine biosynthetic process | |
| catecholamine metabolic process | |
| epinephrine metabolic process | |
| norepinephrine metabolic process | |
| dopamine metabolic process | |
| elastin biosynthetic process | |
| peptidyl-lysine modification | |
| ion transmembrane transport | |
| copper ion export | |
| copper ion import | |
| cellular copper ion homeostasis | |
| elastic fiber assembly | |
| mitochondrion organization | |
| release of cytochrome c from mitochondria | |
| extracellular matrix organization | |
| collagen fibril organization | |
| response to copper ion | |
| response to zinc ion | |
| response to iron(III) ion | |
| detoxification of copper ion | |
| locomotory behavior | |
| regulation of gene expression | |
| positive regulation of catalytic activity | |
| positive regulation of oxidoreductase activity | |
| positive regulation of metalloenzyme activity | |
| negative regulation of metalloenzyme activity | |
| hair follicle morphogenesis | |
| blood vessel development | |
| lung alveolus development | |
| skin development | |
| cartilage development | |
| in utero embryonic development | |
| hindlimb morphogenesis | |
| pigmentation | |
| blood vessel remodeling | |
| lactation | |
| transport | |
| ion transport | |
| cation transport | |
| metal ion transport | |
| copper ion transport |
| Pathway | cisplatin drug pathway |
|---|
| Group | Me++ homeostasis |
|---|---|
| metabolic process | |
| transmembrane transport | |
| regulation of oxidative phosphorylation | |
| negative regulation of neuron apoptotic process | |
| neuron projection morphogenesis | |
| dendrite morphogenesis | |
| central nervous system neuron development | |
| pyramidal neuron development | |
| T-helper cell differentiation | |
| cerebellar Purkinje cell differentiation | |
| ATP biosynthetic process | |
| ATP catabolic process | |
| ATP metabolic process | |
| tryptophan metabolic process | |
| serotonin metabolic process | |
| removal of superoxide radicals | |
| tyrosine metabolic process | |
| norepinephrine biosynthetic process | |
| catecholamine metabolic process | |
| epinephrine metabolic process | |
| norepinephrine metabolic process | |
| dopamine metabolic process | |
| elastin biosynthetic process | |
| peptidyl-lysine modification | |
| ion transmembrane transport | |
| copper ion export | |
| copper ion import | |
| cellular copper ion homeostasis | |
| elastic fiber assembly | |
| mitochondrion organization | |
| release of cytochrome c from mitochondria | |
| extracellular matrix organization | |
| collagen fibril organization | |
| response to copper ion | |
| response to zinc ion | |
| response to iron(III) ion | |
| detoxification of copper ion | |
| locomotory behavior | |
| regulation of gene expression | |
| positive regulation of catalytic activity | |
| positive regulation of oxidoreductase activity | |
| positive regulation of metalloenzyme activity | |
| negative regulation of metalloenzyme activity | |
| hair follicle morphogenesis | |
| blood vessel development | |
| lung alveolus development | |
| skin development | |
| cartilage development | |
| in utero embryonic development | |
| hindlimb morphogenesis | |
| pigmentation | |
| blood vessel remodeling | |
| lactation | |
| transport | |
| ion transport | |
| cation transport | |
| metal ion transport | |
| copper ion transport | |
| catalytic activity | |
| copper-dependent protein binding | |
| nucleotide binding | |
| ATP binding | |
| metal ion binding | |
| copper ion binding | |
| superoxide dismutase copper chaperone activity | |
| hydrolase activity | |
| ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism | |
| copper-transporting ATPase activity | |
| copper-exporting ATPase activity | |
| copper ion transmembrane transporter activity | |
| membrane | |
| trans-Golgi network transport vesicle | |
| basolateral plasma membrane | |
| brush border membrane | |
| integral to membrane | |
| plasma membrane | |
| perinuclear region of cytoplasm | |
| cytoplasmic vesicle | |
| cytosol | |
| endoplasmic reticulum | |
| Golgi apparatus | |
| late endosome | |
| secretory granule | |
| trans-Golgi network | |
| neuron projection | |
| neuronal cell body | |
| Secreted proteins | |
| Biofluids assayable substances |
| MedScan ID | 538 |
|---|
| Hugo ID | 869 |
|---|
| Human chromosome position | Xq21.1 |
|---|
| LocusLink ID | 538 |
|---|---|
| 11977 | |
| 24941 |
| Alias | MK |
|---|---|
| MNK | |
| DSMAX | |
| SMAX3 | |
| RP3-465G10.1 | |
| copper-transporting ATPase 1 | |
| copper pump 1 | |
| Cu++-transporting P-type ATPase | |
| Menkes disease-associated protein | |
| Mo | |
| br | |
| Blo | |
| I14 | |
| blotchy | |
| mottled | |
| brindled | |
| DXHXS1608e | |
| RP23-186F4.3 | |
| Menkes protein | |
| menkes disease-associated protein homolog | |
| Menkes disease associated protein | |
| Menkes syndrome gene | |
| mottled gene | |
| mottled protein | |
| OTTHUMP00000023593 | |
| OTTHUMP00000062077 | |
| OTTMUSP00000019850 | |
| spinal muscular atrophy, distal, X-linked recessive gene | |
| FLJ17790 | |
| ATPase, Cu++ transporting, alpha polypeptide | |
| Atp7a | |
| ATPase, Cu transporting, alpha polypeptide (Menkes syndrome) | |
| ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) | |
| blotchy homolog | |
| DNA segment, Chr X, 1608 expressed | |
| ATPase, Cu transporting, alpha polypeptide | |
| brindled protein | |
| Cu-transporting P-type ATPase | |
| Copper-transporting ATPase I | |
| Copper pump I |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 300011 |
|---|---|
| 304150 | |
| 300489 | |
| 309400 |
| Unigene ID | Hs.496414 |
|---|---|
| Mm.254297 | |
| Rn.10554 |
| KEGG ID | hsa:538 |
|---|---|
| mmu:11977 | |
| rno:24941 |
| Swiss-Prot Accession | B4DRW0 |
|---|---|
| Q04656 | |
| Q762B6 | |
| A2AG68 | |
| Q64430 | |
| P70705 | |
| A2AG69 | |
| O35101 | |
| P97422 | |
| Q64431 | |
| B1AT72 | |
| O00227 | |
| O00745 | |
| Q9BYY8 |
| EC Number | 3.6.3.4 |
|---|
| GO ID | 0005524 |
|---|---|
| 0005507 | |
| 0005375 | |
| 0032767 | |
| 0004008 | |
| 0016532 | |
| 0006754 | |
| 0042093 | |
| 0001568 | |
| 0001974 | |
| 0051216 | |
| 0006584 | |
| 0006878 | |
| 0021954 | |
| 0021702 | |
| 0030199 | |
| 0060003 | |
| 0015677 | |
| 0006825 | |
| 0048813 | |
| 0010273 | |
| 0042417 | |
| 0048251 | |
| 0051542 | |
| 0042414 | |
| 0030198 | |
| 0031069 | |
| 0001701 | |
| 0034220 | |
| 0007626 | |
| 0048286 | |
| 0007005 | |
| 0048553 | |
| 0048812 | |
| 0042421 | |
| 0042415 | |
| 0018205 | |
| 0043473 | |
| 0043085 | |
| 0048554 | |
| 0051353 | |
| 0021860 | |
| 0010468 | |
| 0002082 | |
| 0001836 | |
| 0019430 | |
| 0010041 | |
| 0010043 | |
| 0042428 | |
| 0043588 | |
| 0055085 | |
| 0006568 | |
| 0006570 | |
| 0005794 | |
| 0016323 | |
| 0031526 | |
| 0005829 | |
| 0005783 | |
| 0016021 | |
| 0005770 | |
| 0043005 | |
| 0043025 | |
| 0048471 | |
| 0005886 | |
| 0030141 | |
| 0005802 | |
| 0030140 | |
| 0015662 | |
| 0003824 | |
| 0043682 | |
| 0016787 | |
| 0046872 | |
| 0000166 | |
| 0006200 | |
| 0046034 | |
| 0006812 | |
| 0035137 | |
| 0006811 | |
| 0008152 | |
| 0030001 | |
| 0043524 | |
| 0046688 | |
| 0006810 | |
| 0031410 | |
| 0016020 | |
| 0007595 |
| PIR ID | S43793 |
|---|---|
| S46483 | |
| S36149 |
| Swiss-Prot ID | ATP7A_MOUSE |
|---|---|
| ATP7A_RAT | |
| ATP7A_HUMAN |
| Cell Localization | Golgi apparatus |
|---|---|
| trans-Golgi network membrane | |
| Cell membrane | |
| Cytoplasm | |
| cytosol | |
| Endoplasmic reticulum | |
| Plasma membrane |
| IPI ID | IPI00331044 |
|---|---|
| IPI00191487 | |
| IPI00028610 | |
| IPI00215614 | |
| IPI00215615 | |
| IPI00215616 | |
| IPI00215617 | |
| IPI00215619 |
| Mouse chromosome position | X 44.0 cM |
|---|
| Rat chromosome position | Xq31 |
|---|
| Homologene ID | 35 |
|---|
| MGI ID | 99400 |
|---|
| RGD ID | 2179 |
|---|
| Primary Cell Localization | Plasma membrane |
|---|