Wilson disease protein

ATP7B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2ROP, 2EW9, 2KOY, 2LQB
Identifiers
Aliases	ATP7B, PWD, WC1, WD, WND, ATPase copper transporting beta
External IDs	OMIM: 606882; MGI: 103297; HomoloGene: 20063; GeneCards: ATP7B; OMA:ATP7B - orthologs
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q14.3 Start 51,930,436 bp[1] End 52,012,125 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 A2|8 10.78 cM Start 22,482,801 bp[2] End 22,550,321 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in nasal epithelium right testis left testis olfactory zone of nasal mucosa jejunal mucosa right lobe of liver germinal epithelium gonad testicle right hemisphere of cerebellum Top expressed in yolk sac pharynx gastrula lumbar subsegment of spinal cord urethra right lung right lung lobe submandibular gland left lung lobe respiratory epithelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding metal ion binding P-type divalent copper transporter activity ATPase-coupled cation transmembrane transporter activity protein binding copper ion binding hydrolase activity ATP binding copper ion transmembrane transporter activity Cellular component cytoplasm integral component of membrane trans-Golgi network membrane membrane Golgi membrane integral component of plasma membrane trans-Golgi network basolateral plasma membrane mitochondrion perinuclear region of cytoplasm endosome late endosome Golgi apparatus cytoplasmic vesicle Biological process protein maturation by copper ion transfer copper ion transmembrane transport metal ion transport copper ion import cation transport ion transport copper ion export ion transmembrane transport sequestering of calcium ion cellular zinc ion homeostasis cellular copper ion homeostasis lactation response to copper ion copper ion transport transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 540 11979 Ensembl ENSG00000123191 ENSMUSG00000006567 UniProt P35670 Q64446 RefSeq (mRNA) NM_000053 NM_001005918 NM_001243182 NM_001330578 NM_001330579 NM_007511 RefSeq (protein) NP_000044 NP_001005918 NP_001230111 NP_001317507 NP_001317508 NP_000044.2 NP_000044.2 NP_001005918.1 NP_001230111.1 NP_031537 NP_001390638 Location (UCSC) Chr 13: 51.93 – 52.01 Mb Chr 8: 22.48 – 22.55 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Wilson disease protein (WND), also known as ATP7B protein, is a copper-transporting P-type ATPase which is encoded by the ATP7B gene. The ATP7B protein is located in the trans-Golgi network of the liver and brain and balances the copper level in the body by excreting excess copper into bile and plasma. Genetic disorder of the ATP7B gene may cause Wilson's disease, a disease in which copper accumulates in tissues, leading to neurological or psychiatric issues and liver diseases.