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FLASH GENE
Symbol ATP7B contributors: mct - updated : 26-03-2011
HGNC name ATPase, Cu++ transporting, beta polypeptide
HGNC id 870
Corresponding disease
WND Wilson disease
Location 13q14.3      Physical location : 52.506.805 - 52.585.630
Synonym name
  • ATPase, Cu++ transporting, beta polypeptide (Wilson disease)
  • Wilson disease
  • Copper pump 2
  • Wilson disease-associated protein
  • copper-transporting ATPase 2
  • Synonym symbol(s) ATPP2, WNDP, WD, WC1, PWD
    EC.number 3.6.3.4
    DNA
    TYPE functioning gene
    STRUCTURE 78.83 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    DLEU7 13q14.13 deleted in lymphocytic leukemia 7 FLJ11712 13q14.13 hypothetical protein FLJ11712 GUCY1B2 13q14.3 guanylate cyclase 1, soluble, beta 2 LOC387925 13 LOC387925 LOC341674 13q14.13 similar to ribosomal protein L5; 60S ribosomal protein L5 FLJ30707 13q14.13 hypothetical protein FLJ30707 DDX26 13q14.12-q14.2 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26 LOC220433 13q14.13 similar to ribosomal protein S4, X-linked WDFY2 13q14.12 WD repeat and FYVE domain containing 2 FLJ13639 13q14.2 hypothetical protein FLJ13639 FLJ37307 13q14.2 hypothetical protein FLJ37307 DKFZP434K1172 13q14.2 hypothetical protein DKFZp434K1172 LOC387926 13 hypothetical gene supported by AF338231; BC030655 ATP7B 13q14.3 ATPase, Cu++ transporting, beta polypeptide (Wilson disease) KIAA0266 13q12.2-q13.3 KIAA0266 protein LOC387927 13 similar to BB049667 protein MGC75495 13q14.2 similar to Serine/threonine-protein kinase Nek1 (NimA-related protein kinase 1) NEK3 13q14.2-q21.1 NIMA (never in mitosis gene a)-related kinase 3 LOC387928 13 similar to mitochondrial ribosomal protein S31; imogen 38 TPTEps1 13q14.2 TPTE and PTEN homologous inositol lipid phosphatase pseudogene THSD1 13q14.13 thrombospondin, type I, domain 1 C13orf9 13q14.13 chromosome 13 open reading frame 9 CKAP2 13q14 cytoskeleton associated protein 2 LOC387929 13 LOC387929 LOC220115 13q14.2 TPTE pseudogene LOC144983 13q14.2 hypothetical protein LOC144983 SUGT1 13q14.2 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) LECT1 13q14-q21 leukocyte cell derived chemotaxin 1 LOC121981 13q14.2 similar to peptidyl-Pro cis trans isomerase PCDH8 13q14.3 protocadherin 8 GW112 13q14.2 differentially expressed in hematopoietic lineages
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 splicing 6644 157.3 1465 - 2008 18637198
    17 splicing 6023 133.5 1258 trans Golgi network 2008 18637198
    lacking exons 6, 7, 8 & 12
    - - - 140 ? mitochondria -
  • also called ATP7B mt
  • post translational cleavage at the N terminus of ATP7R
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   predominantly
    Nervousbrain   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • extended N-terminus protruding into the cytosol with six N-terminal cytosolic copper-binding domains (CXXC) contained within an approximately 72 amino acid consensus motif and the first four of these domains, denoted WLN1-4, are implicated in copper acquisition from the metallochaperone HAH1
  • metal-binding site 2 (MBS2) in the N-terminal domain, retaining copper much better than ATOX1, and this may facilitate the metal transfer process
  • eight transmembrane spanning segments (6TM)
  • a phosphorylation domain (DKTGTIT) and a phosphatase domain [TGE]
  • conjugated MetalloP
    HOMOLOGY
    interspecies homolog to rattus Atp7b (83.12 pc)
    homolog to murine Atp7b (83.52 pc)
    intraspecies homolog to MNK
    Homologene
    FAMILY
  • cation transport ATPase (P-type) family
  • type IB subfamily
  • CATEGORY enzyme , protooncogene , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    text
  • late endosome-associated membrane protein
  • translocate copper from the cytosol to the late endosomal lumen, thus participating in biliary copper excretion via lysosomes
  • basic FUNCTION
  • central to hepatic and systemic copper homeostasis
  • involved in subcellular transport and copper efflux
  • copper-transporting ATPase regulating distribution of copper in the liver, mediating the excretion of excess copper from hepatocytes into bile
  • might play an important role in physiological sweat production
  • role for renal ATP7B in intracellular copper storage
  • play a central role in distribution of copper in the central nervous system
  • P 1B-type ATPase involved in copper homeostasis
  • transport Cu across cellular membranes for biosynthetic and protective functions, enabling Cu to fulfill its role as a catalytic and structural cofactor for many essential enzymes, and to prevent a toxic build-up of Cu inside cells
  • one of the major determinants responsible for copper homeostasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
  • ATP7B interaction with DCTN4 is a key component of the copper-induced trafficking pathway that delivers ATP7B to subapical vesicles of hepatocytes for the removal of excess copper into bile
  • ability of ATOX1 to form a complex only with some domains of ATP7B is an interesting property of this class of proteins and may have a signaling role in the function of the ATPases
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • copper Cu2+
  • ATP
  • protein
  • linking copper-translocation activity with copper-induced intracellular trafficking of ATP7B
  • interacting with ATOX1, a cytosolic metallochaperone that delivers copper
  • COMMD1 maintains the amount of ATP7b and facilitates recruitment of ATP7B from cytoplasmic vesicles to the trans-Golgi network membrane
  • interacting with GLRX, having important new roles in redox regulation of the Cu-ATPases, through modulation of Cu binding by the Cu-ATPase cysteine motifs
  • interacting with CLU (chaperone-like role for clusterin in facilitating the degradation of ATP7A, ATP7B)
  • cell & other
    REGULATION
    Other formed after proleolytic cleavage at the N terminus of ATP7B
    ATP7B trafficking is regulated with its copper-translocation cycle, with cytosolic vesicular localization associated with the acyl-phosphate intermediate
    ASSOCIATED DISORDERS
    corresponding disease(s) WND
    related resource Wilson disease Mutation Database
    Wilson's Disease at GeneDis
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast carcinoma poorly differentiated and with chemoresistance to cisplatin
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolismcopper 
    ATP7B overexpression provides an important selection advantage to mesenchymal stem cells in high copper microenvironments, and may represent novel cell transplants for therapy of Wilson disease
    ANIMAL & CELL MODELS