ATP7B Antibody – Mouse Monoclonal

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]

ATP7B: Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile. Monomer. Interacts with COMMD1/MURR1. Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Transporter; Vesicle; Membrane protein, integral; Transporter, ion channel; Hydrolase; Membrane protein, multi-pass; EC 3.6.3.54

Chromosomal Location of Human Ortholog: 13q14.3

Cellular Component: Golgi membrane; membrane; mitochondrion; basolateral plasma membrane; perinuclear region of cytoplasm; integral to plasma membrane; cytoplasmic membrane-bound vesicle; late endosome; trans-Golgi network

Molecular Function: protein binding; copper ion binding; copper-exporting ATPase activity; ATP binding

Biological Process: lactation; cellular copper ion homeostasis; response to copper ion; metabolic process; cellular zinc ion homeostasis; sequestering of calcium ion; copper ion import; copper ion transport; copper ion export; transmembrane transport; intracellular copper ion transport

Disease: Wilson Disease