ATP7B

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]

Description

ATPase copper transporting beta

Tissue specificity

Low tissue specificity

Subcell location

Golgi apparatus

Predicted location

Membrane

Protein family

Cancer-related genes
Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

13 (51930436 - 52012125)

Ensembl ID

ENSG00000123191  (ver. 103.38)

Orthologs

Mouse Atp7b: ENSMUSG00000006567

UniProt

P35670

neXtProt

NX_P35670

Human splice variants
Mouse splice variants

Protein structure