Wilson protein
| ATPase, Cu ++ transporting, beta polypeptide | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 1465 amino acids | |
| Secondary to quaternary structure | multipass transmembrane protein | |
| Isoforms | 4th | |
| Identifier | ||
| Gene name | ATP7B | |
| External IDs | ||
| Transporter classification | ||
| TCDB | 3.A.3 | |
| designation | P-ATPase | |
| Enzyme classification | ||
| EC, category | 3.6.3.4 , hydrolase | |
| Response type | hydrolysis | |
| Substrate | ATP + H 2 O + Cu 2+ (In) | |
| Products | ADP + phosphate + Cu 2+ (Out) | |
| Occurrence | ||
| Homology family | cation transporting ATPase | |
| Parent taxon | Creature | |
| Orthologue | ||
| human | mouse | |
| Entrez | 540 | 11979 |
| Ensemble | ENSG00000123191 | ENSMUSG00000006567 |
| UniProt | P35670 | Q64446 |
| Refseq (mRNA) | NM_000053 | NM_007511 |
| Refseq (protein) | NP_000044 | NP_031537 |
| Gene locus | Chr 13: 51.41 - 51.45 Mb | Chr 8: 23.46 - 23.53 Mb |
| PubMed search | 540 |
11979
|
The Wilson disease protein , also known as ATP7B known, an ATPase , the copper transported.
Wilson protein is a member of the P-type cation transporter ATPase family. The associated Wilson gene codes for a membrane protein with different transmembrane domains, an ATPase consensus sequence, a hinge domain, a section that can be phosphorylated and at least two copper binding sites. The protein transports copper out of cells, similar to the transport of copper from the liver cell into the bile. For the Wilson gene, mRNA variants have been described that are caused by alternative splicing and code for different isoforms of the Wilson protein that are located at different locations in the cell. Mutations in the Wilson gene are associated with Wilson's disease .
literature
- ED Harris: Cellular copper transport and metabolism. In: Annu. Rev. Nutr. vol. 20, 2000, pp. 291-310. PMID 10940336
- DW Cox, SD Moore: Copper transporting P-type ATPases and human disease. In: J. Bioenerg. Biomembrane vol. 34,5, 2003, pp. 333-338. PMID 12539960
- S. Lutsenko, RG Efremov, R. Tsivkovskii, JM Walker: Human copper-transporting ATPase ATP7B (the Wilson's disease protein): biochemical properties and regulation. In: J. Bioenerg. Biomembrane vol. 34,5, 2003, pp. 351-362. PMID 12539962
- P. Chappuis, M. Bost, M. Misrahi, among others: [Wilson disease: clinical and biological aspects]. In: Ann. Biol. Clin. (Paris) vol. 63,5, 2006, pp. 457-466. PMID 16230279
- S. La Fontaine, JF Mercer: Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis. In: Arch. Biochem. Biophys. vol. 463,2, 2007, pp. 149-167. PMID 17531189
- S. Lutsenko, ES LeShane, U. Shinde: Biochemical basis of regulation of human copper-transporting ATPases. In: Arch. Biochem. Biophys. vol. 463,2, 2007, pp. 134-148. PMID 17562324
Individual evidence
- ↑ Entrez genes: ATP7B ATPase, Cu ++ transporting, beta polypeptide. Retrieved March 9, 2011 .