| Gene Name | ATP7B |
|
| Specie | Homo sapiens | |
| Full Name | ATPase copper transporting beta | |
| Also known as | PWD|WC1|WD|WND | |
| Coordinate | chr13:51932669-52012130 | |
| Strand | - | |
| Gene summary | 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 is a monomer, and functions as a copper-transporting ATPase which exports 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 which is characterized by copper accumulation. [provided by RefSeq, Dec 2019] |
| Retroname | Coord | Strand | Genomic Region | ENSG | |
|---|---|---|---|---|---|
| ATP7BP1 | chr18:22418829-22419296 | - |
Intergenic |
ENSG00000270855 | UCSC |
| >NM_001330578.2 |
| CTCACACTCTGCGCCTCCTCTCCCGGGACTTTAACACCCCGCTCTCCTCCACCGACCAGGTGACCTTTTGCTCTGAGCCAGATCAGAGAAGAATTCGGTGTCCGTGCGGGACGATGCCTGAGCAGGAGAGACAGATCACAGCCAGAGAAGGGGCCAGTCGGAAAATCTTATCTAAGCTTTCTTTGCCTACCCGTGCCTGGGAACCAGCAATGAAGAAGAGTTTTGCTTTTGACAATGTTGGCTATGAAGGTGGTCTGGATGGCCTGGGCCCTTCTTCTCAGGTGGCCACCAGCACAGTCAGGATCTTGGGCATGACTTGCCAGTCATGTGTGAAGTCCATTGAGGACAGGATTTCCAATTTGAAAGGCATCATCAGCATGAAGGTTTCCCTGGAACAAGGCAGTGCCACTGTGAAATATGTGCCATCGGTTGTGTGCCTGCAACAGGTTTGCCATCAAATTGGGGACATGGGCTTCGAGGCCAGCATTGCAGAAGGAAAGGCAGCCTCCTGGCCCTCAAGGTCCTTGCCTGCCCAGGAGGCTGTGGTCAAGCTCCGGGTGGAGGGCATGACCTGCCAGTCCTGTGTCAGCTCCATTGAAGGCAAGGTCCGGAAACTGCAAGGAGTAGTGAGAGTCAAAGTCTCACTCAGCAACCAAGAGGCCGTCATCACTTATCAGCCTTATCTCATTCAGCCCGAAGACCTCAGGGACCATGTAAATGACATGGGATTTGAAGCTGCCATCAAGAGCAAAGTGGCTCCCTTAAGCCTGGGACCAATTGATATTGAGCGGTTACAAAGCACTAACCCAAAGAGACCTTTATCTTCTGCTAACCAGAATTTTAATAATTCTGAGACCTTGGGGCACCAAGGAAGCCATGTGGTCACCCTCCAACTGAGAATAGATGGAATGCATTGTAAGTCTTGCGTCTTGAATATTGAAGAAAATATTGGCCAGCTCCTAGGGGTTCAAAGTATTCAAGTGTCCTTGGAGAACAAAACTGCCCAAGTAAAGTATGACCCTTCTTGTACCAGCCCAGTGGCTCTGCAGAGGGCTATCGAGGCACTTCCACCTGGGAATTTTAAAGTTTCTCTTCCTGATGGAGCCGAAGGGAGTGGGACAGATCACAGGTCTTCCAGTTCTCATTCCCCTGGCTCCCCACCGAGAAACCAGGTCCAGGGCACATGCAGTACCACTCTGATTGCCATTGCCGGCATGACCTGTGCATCCTGTgtccattccattgaaggcatgatctcccaactggaaggggtgcagcaaatatcgGTGTCTTTGGCCGAAGGGACTGCAACAGTTCTTTATAATCCCTCTGTAATTAGCCCAGAAGAACTCAGAGCTGCTATAGAAGACATGGGATTTGAGGCTTCAGTCGTTTCTGAAAGCTGTTCTACTAACCCTCTTGGAAACCACAGTGCTGGGAATTCCATGGTGCAAACTACAGATGGTACACCTACATCTGTGCAGGAAGTGGCTCCCCACACTGGGAGGCTCCCTGCAAACCATGCCCCGGACATCTTGGCAAAGTCCCCACAATCAACCAGAGCAGTGGCACCGCAGAAGTGCTTCTTACAGATCAAAGGCATGACCTGTGCATCCTGTGTGTCTAACATAGAAAGGAATCTGCAGAAAGAAGCTGGTGTTCTCTCCGTGTTGGTTGCCTTGATGGCAGGAAAGGCAGAGATCAAGTATGACCCAGAGGTCATCCAGCCCCTCGAGATAGCTCAGTTCATCCAGGACCTGGGTTTTGAGGCAGCAGTCATGGAGGACTACGCAGGCTCCGATGGCAACATTGAGCTGACAATCACAGGGATGACCTGCGCGTCCTGTGTCCACAACATAGAGTCCAAACTCACGAGGACAAATGGCATCACTTATGCCTCCGTTGCCCTTGCCACCAGCAAAGCCCTTGTTAAGTTTGACCCGGAAATTATCGGTCCACGGGATATTATCAAAATTATTGAGGAAATTGGCTTTCATGCTTCCCTGGCCCAGAGAAACCCCAACGCTCATCACTTGGACCACAAGATGGAAATAAAGCAGTGGAAGAAGTCTTTCCTGTGCAGCCTGGTGTTTGGCATCCCTGTCATGGCCTTAATGATCTATATGCTGATACCCAGCAACGAGCCCCACCAGTCCATGGTCCTGGACCACAACATCATTCCAGGACTGTCCATTCTAAATCTCATCTTCTTTATCTTGTGTACCTTTGTCCAGAGCAAAACCTCAGAAGCCCTGGCTAAACTCATGTCTCTCCAAGCCACAGAAGCCACCGTTGTGACCCTTGGTGAGGACAATTTAATCATCAGGGAGGAGCAAGTCCCCATGGAGCTGGTGCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGTTTCCAGTGGATGGGAAAGTCCTGGAAGGCAATACCATGGCTGATGAGTCCCTCATCACAGGAGAAGCCATGCCAGTCACTAAGAAACCCGGAAGCACTGTAATTGCGGGGTCTATAAATGCACATGGCTCTGTGCTCATTAAAGCTACCCACGTGGGCAATGACACCACTTTGGCTCAGATTGTGAAACTGGTGGAAGAGGCTCAGATGTCAAAGGCACCCATTCAGCAGCTGGCTGACCGGTTTAGTGGATATTTTGTCCCATTTATCATCATCATGTCAACTTTGACGTTGGTGGTATGGATTGTAATCGGTTTTATCGATTTTGGTGTTGTTCAGAGATACTTTCCTAACCCCAACAAGCACATCTCCCAGACAGAGGTGATCATCCGGTTTGCTTTCCAGACGTCCATCACGGTGCTGTGCATTGCCTGCCCCTGCTCCCTGGGGCTGGCCACGCCCACGGCTGTCATGGTGGGCACCGGGGTGGCCGCGCAGAACGGCATCCTCATCAAGGGAGGCAAGCCCCTGGAGATGGCGCACAAGATAAAGACTGTGATGTTTGACAAGACTGGCACCATTACCCATGGCGTCCCCAGGGTCATGCGGGTGCTCCTGCTGGGGGATGTGGCCACACTGCCCCTCAGGAAGGTTCTGGCTGTGGTGGGGACTGCGGAGGCCAGCAGTGAACACCCCTTGGGCGTGGCAGTCACCAAATACTGTAAAGAGGAACTTGGAACAGAGACCTTGGGATACTGCACGGACTTCCAGGCAGTGCCAGGCTGTGGAATTGGGTGCAAAGTCAGCAACGTGGAAGGCATCCTGGCCCACAGTGAGCGCCCTTTGAGTGCACCGGCCAGTCACCTGAATGAGGCTGGCAGCCTTCCCGCAGAAAAAGATGCAGTCCCCCAGACCTTCTCTGTGCTGATTGGAAACCGTGAGTGGCTGAGGCGCAACGGTTTAACCATTTCTAGCGATGTCAGTGACGCTATGACAGACCACGAGATGAAAGGACAGACAGCCATCCTGGTGGCTATTGACGGTGTGCTCTGTGGGATGATCGCAATCGCAGACGCTGTCAAGCAGGAGGCTGCCCTGGCTGTGCACACGCTGCAGAGCATGGGTGTGGACGTGGTTCTGATCACGGGGGACAACCGGAAGACAGCCAGAGCTATTGCCACCCAGGTTGGCATCAACAAAGTCTTTGCAGAGGTGCTGCCTTCGCACAAGGTGGCCAAGGTCCAGGAGCTCCAGAATAAAGGGAAGAAAGTCGCCATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCCAGGCAGACATGGGTGTGGCCATTGGCACCGGCACGGATGTGGCCATCGAGGCAGCCGACGTCGTCCTTATCAGAAATGATTTGCTGGATGTGGTGGCTAGCATTCACCTTTCCAAGAGGACTGTCCGAAGGATACGCATCAACCTGGTCCTGGCACTGATTTATAACCTGGTTGGGATACCCATTGCAGCAGGTGTCTTCATGCCCATCGGCATTGTGCTGCAGCCCTGGATGGGCTCAGCGGCCATGGCAGCCTCCTCTGTGTCTGTGGTGCTCTCATCCCTGCAGCTCAAGTGCTATAAGAAGCCTGACCTGGAGAGGTATGAGGCACAGGCGCATGGCCACATGAAGCCCCTGACGGCATCCCAGGTCAGTGTGCACATAGGCATGGATGACAGGTGGCGGGACTCCCCCAGGGCCACACCATGGGACCAGGTCAGCTATGTCAGCCAGGTGTCGCTGTCCTCCCTGACGTCCGACAAGCCATCTCGGCACAGCGCTGCAGCAGACGATGATGGGGACAAGTGGTCTCTGCTCCTGAATGGCAGGGATGAGGAGCAGTACATCTGATGACTTCAGGCAGGCGGGCCGGGGCAGGGACTTGCCTCCACTCACCACAAGCTGAGCAGGACAGCCAGCAGCAGGATGGGCTGAGCTAGCCTCCAGCTTTGGGGACTTCCGCTCCCTGGATATGTCCAGTCATCCTGCCCTGCAGCACGCGGCCTTGTCTGGGTGCAGCTGGGCTTGGCCTGGAGAGGACGGCCCTGCCTGCCTCTTGGCCTCACGGGACCGTCAGCATGGGCTTTGTCTTGGACTCTAGTCCTTGGCTGGACTGTAGAAGGTGAGAGGCGAGTCACCCTCCTCACAGACCTCTGCTTGGAGTATTTAGGATGACTGCTGTGAAATGGAGAACAGTTTCATCAGGACCAAAAAACCTCACTGGGCCTTTCCAGAGAACTGCAGACCTCACTGTCAGGGTCTTTCTGATGACGCCTGTCTGTGTGCATCATGTTTCTGAGACCACAGTTTACCTCAGGTGTGCCTGTTGCTTTCTTCCTGCATAGTCTGTTCCTTTCTTCGTACATAGTCTGTTCCTTTTCTCTCCTGTGTGCTTGTCAGTGGGGACCCCTCGCAACCCTGCCTGTCACCTGGGAGGGTGGGACCAATGTCCTTGTGGTCTTTGCTGCTGCTCTCAGGCGCTTCTCCAATGCTCTGGAGTGTGCATTTCAGCTTGAACCTGCTTCCTGGCTCACACATCCCCAGCCAGGGAGCTTGCCACACTCTTCTTCAAGTTGAGGAGAGTTCTTTTTTGCTTAAAGCCCCCTTCTCCATGGAGTGTTGGCTTCTCAATAGAGTGTTGTTGCTGACCAGCTGGAGTGAGGGCCTCAGAGCCTGACCTGAGAGTCCGTACTCGGCTTCCTGTGGGGTGTAGGTTCTCGCGATTCAGGACGTCCTTCCATATCCCTGCCCAGCCTGTGGTGCTTGAAACGTTTGCCCCATGGGAAACGTATGTGTGCAGGAGCCTCCCTGCACGGCCCAAGGGGCTTCGTTTTCAGTCTTCTGACTGTCACCTCGTGGGGTTCAGTAGAGAATTCATGTGACTAGCGCCTGGCCTTGTGTGGCTTGGAGGAAATGGTACTGCCCAAATAGGAGGAAAACACAGCCTCCCTGAGCCTGCATTCTGCACGCTGCCCAGGGGCTTCAGAAAAGGAGTGGCCACAGCACCCCGAAGGGAGCATCTGTTTACCTGGCAGTGGCTCTCAGAGCAGCAGAACGGGTTCAGTTTTAGACTCTGAAGTTGGTTGTGATTGACAGAACCCTTTGGGAGCAAACTAGTAGAGTTGGATTAAATTCTGGGTGAAACCCTTTTCTCCCACACAAAATAGTTTTAGTGATTTTTttcattgtccattacttgccaggggcagttttagcagcacttttgatagattacgtctaatcctcccaaccaaccagcagggtagctattactgtccacattttacaggcaaggaaacaggctccaagaggctgaggactttgcccaggatgacatagccaatGGACAAGCAGTGTCTGTCAGCTGTGAAGGCTTCACTCTTATTGTCCTTCTACCTTGAATAGAAGTTTTCCTGATAAGAATAAACGAGGAAAAGGTCCTTGCCTCCTGGAAGAACAAATCTACCAGGTGATCTATTCATTGTTTCAACTCAGAATGCACTTGATTCAGGAGGTCATCTGACCTTCACCTTGGATGGTTAGTTTCACTTTTTACATATAGTTTTTGCAGGGTTTTATTTTATAAAATCCAAGCGCGCTGTTGATTGTGTTTTCCTTGTTTTCAGCCCCCCCACTCCAGCCCGCAGCACATTTCCGCTGTCCGTCAGTAATTGTGTCCTCTCTTTATGCTTGCTTGGGGAATGTTGTTTTCTGACTAGGCTGATCATTATCTAAAGAATCTAATTCTGTTGATTTTTAAAACTTTTAGGACCATAAACGTTGTGTTCATATATGGACATGGAAATATTTATATAATTTTATAGAAAATAACCTTTTAGATGGTCAAAGTGTAAGGAGTTTTTTTGTCAGATAATCATTTCTACTTCAAAAACATTTCATGCAATATTAGAATAAAGTTCCTGTCATTCCTCTAAAAA 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