| URN | urn:agi-llid:540 |
|---|---|
| Total Entities | 0 |
| Connectivity | 157 |
| Name | Atp7b |
| Description | ATPase, Cu++ transporting, beta polypeptide |
| Notes | This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008] |
| Ariadne Ontology | Me++ homeostasis |
|---|---|
| Secreted proteins | |
| Biofluids assayable substances |
| GO Molecular Function | catalytic activity |
|---|---|
| nucleotide binding | |
| ATP binding | |
| metal ion binding | |
| zinc ion binding | |
| copper ion binding | |
| 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 |
|---|---|
| Golgi membrane | |
| basolateral plasma membrane | |
| integral to plasma membrane | |
| integral to membrane | |
| plasma membrane | |
| perinuclear region of cytoplasm | |
| mitochondrion | |
| Golgi apparatus | |
| late endosome | |
| cytoplasmic membrane-bounded vesicle | |
| trans-Golgi network | |
| tight junction |
| GO Biological Process | metabolic process |
|---|---|
| transmembrane transport | |
| ATP biosynthetic process | |
| ATP catabolic process | |
| ion transmembrane transport | |
| copper ion transmembrane transport | |
| copper ion export | |
| copper ion import | |
| cellular copper ion homeostasis | |
| cellular zinc ion homeostasis | |
| response to copper ion | |
| response to zinc ion | |
| response to cAMP | |
| lactation | |
| circadian rhythm | |
| transport | |
| ion transport | |
| cation transport | |
| metal ion transport | |
| copper ion transport | |
| intracellular copper ion transport | |
| sequestering of calcium ion |
| Pathway | cisplatin drug pathway |
|---|
| Group | Me++ homeostasis |
|---|---|
| metabolic process | |
| transmembrane transport | |
| ATP biosynthetic process | |
| ATP catabolic process | |
| ion transmembrane transport | |
| copper ion transmembrane transport | |
| copper ion export | |
| copper ion import | |
| cellular copper ion homeostasis | |
| cellular zinc ion homeostasis | |
| response to copper ion | |
| response to zinc ion | |
| response to cAMP | |
| lactation | |
| circadian rhythm | |
| transport | |
| ion transport | |
| cation transport | |
| metal ion transport | |
| copper ion transport | |
| intracellular copper ion transport | |
| sequestering of calcium ion | |
| catalytic activity | |
| nucleotide binding | |
| ATP binding | |
| metal ion binding | |
| zinc ion binding | |
| copper ion binding | |
| 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 | |
| Golgi membrane | |
| basolateral plasma membrane | |
| integral to plasma membrane | |
| integral to membrane | |
| plasma membrane | |
| perinuclear region of cytoplasm | |
| mitochondrion | |
| Golgi apparatus | |
| late endosome | |
| cytoplasmic membrane-bounded vesicle | |
| trans-Golgi network | |
| tight junction | |
| Secreted proteins | |
| Biofluids assayable substances |
| MedScan ID | 540 |
|---|
| Hugo ID | 870 |
|---|
| Human chromosome position | 13q14.3 |
|---|
| LocusLink ID | 540 |
|---|---|
| 11979 | |
| 24218 |
| Alias | WD |
|---|---|
| PWD | |
| WC1 | |
| WND | |
| RP11-327P2.1 | |
| copper-transporting ATPase 2 | |
| copper pump 2 | |
| Wilson disease-associated protein | |
| ATPase, Cu(2+)- transporting, beta polypeptide | |
| tx | |
| Atp7a | |
| toxic milk | |
| Wilson protein | |
| wilson disease-associated protein homolog | |
| Hts | |
| PINA | |
| PINA gene, promoter | |
| pineal night-specific ATPase | |
| ATPase, Cu++ transporting, beta polypeptide (same as Wilson disease) | |
| Wilson disease protein | |
| ATP7B | |
| ATPase, Cu transporting, beta polypeptide | |
| ATPase, Cu(2)- transporting, beta polypeptide | |
| ATPase, Cu++ transporting, beta polypeptide | |
| Wilson disease gene | |
| Copper pump II | |
| Wilson disease associated protein | |
| Copper-transporting ATPase II | |
| OTTHUMP00000040880 | |
| OTTMUSP00000022787 | |
| RP11-327P2.3 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 606882 |
|---|---|
| 277900 |
| Unigene ID | Hs.492280 |
|---|---|
| Mm.87854 | |
| Rn.10025 |
| KEGG ID | hsa:540 |
|---|---|
| mmu:11979 | |
| rno:24218 |
| Swiss-Prot Accession | B7ZLR4 |
|---|---|
| P35670 | |
| Q64446 | |
| Q9QUG4 | |
| Q64535 | |
| Q16318 | |
| Q16319 | |
| Q4U3V3 | |
| Q59FJ9 | |
| Q5T7X7 | |
| B1AQ56 |
| EC Number | 3.6.3.4 |
|---|
| GO ID | 0005524 |
|---|---|
| 0005507 | |
| 0004008 | |
| 0006754 | |
| 0006878 | |
| 0006882 | |
| 0015677 | |
| 0006825 | |
| 0015680 | |
| 0034220 | |
| 0007595 | |
| 0046688 | |
| 0051208 | |
| 0055085 | |
| 0000139 | |
| 0016323 | |
| 0016023 | |
| 0005887 | |
| 0005770 | |
| 0005739 | |
| 0048471 | |
| 0005802 | |
| 0015662 | |
| 0003824 | |
| 0005375 | |
| 0043682 | |
| 0016787 | |
| 0046872 | |
| 0000166 | |
| 0008270 | |
| 0006200 | |
| 0006812 | |
| 0060003 | |
| 0035434 | |
| 0006811 | |
| 0008152 | |
| 0030001 | |
| 0006810 | |
| 0005794 | |
| 0016021 | |
| 0016020 | |
| 0005886 | |
| 0005923 | |
| 0007623 | |
| 0051591 | |
| 0010043 |
| PIR ID | I78536 |
|---|---|
| I78537 | |
| S78555 |
| Swiss-Prot ID | ATP7B_HUMAN |
|---|---|
| ATP7B_MOUSE |
| Cell Localization | Golgi apparatus |
|---|---|
| trans-Golgi network membrane | |
| Cytoplasm | |
| Mitochondrion | |
| Plasma membrane |
| IPI ID | IPI00020058 |
|---|---|
| IPI00216296 | |
| IPI00515019 | |
| IPI00658175 | |
| IPI00134479 |
| Mouse chromosome position | 8 10.0 cM |
|---|
| Rat chromosome position | 16q12.2-q12.4 |
|---|
| Homologene ID | 20063 |
|---|
| MGI ID | 103297 |
|---|
| RGD ID | 2180 |
|---|
| Primary Cell Localization | Plasma membrane |
|---|