QuickView for ATP7B (gene)

Gene Symbol:

ATP7B Homo sapiens

Full name:

ATPase copper transporting beta

Synonyms:

PWD, WC1, WD, WND, copper-transporting ATPase 2, ATPase, Cu(2+)- transporting, beta polypeptide, ATPase, Cu++ transporting, beta polypeptide, Wilson disease-associated protein, copper pump 2

Genomic Location:

Chr 13: 51404806-51483631

Description:

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 cop...

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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).

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Gallus gallus ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GGGYGTGNY_UNKNOWN ,  CAGGTG_E12_Q6 ,  USF_Q6_01

Cytogenetic Map:

13q14.3

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