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ATP7B Gene

protein-coding   GIFtS: 68
GCID: GC13M052506

ATPase, Cu++ Transporting, Beta Polypeptide

(Previous names: ATPase, Cu++ transporting, beta polypeptide (Wilson disease))
(Previous symbol: WND)
  See ATP7B-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATPase, Cu++ Transporting, Beta Polypeptide1 2     ATPase, Cu++ Transporting, Beta Polypeptide (Wilson Disease)1
WND1 2 3 5     Wilson Disease1
Copper Pump 21 2 3     WD2
Copper-Transporting ATPase 21 2     ATPase, Cu(2+)- Transporting, Beta Polypeptide2
PWD2 3     EC 3.6.3.543
WC12 3     EC 3.6.38
Wilson Disease-Associated Protein2 3     EC 3.6.3.48

External Ids:    HGNC: 8701   Entrez Gene: 5402   Ensembl: ENSG000001231917   OMIM: 6068825   UniProtKB: P356703   

Export aliases for ATP7B gene to outside databases

Previous GC identifers: GC13M050506 GC13M046494 GC13M051443 GC13M050304 GC13M051404 GC13M033295


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATP7B Gene:
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). (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP7B Gene:
ATP7B (ATPase, Cu++ transporting, beta polypeptide) is a protein-coding gene. Diseases associated with ATP7B include wilson disease, and menkes disease. GO annotations related to this gene include copper-exporting ATPase activity and copper ion binding. An important paralog of this gene is ATP7A.

UniProtKB/Swiss-Prot: ATP7B_HUMAN, P35670
Function: Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile

Gene Wiki entry for ATP7B (Wilson disease protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000013.11  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP7B gene promoter:
         ISGF-3   Sp1   p53   NRSF form 2   C/EBPalpha   GATA-1   CHOP-10   COMP1   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ATP7B promoter sequence
   Search Chromatin IP Primers for ATP7B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP7B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q14.3   Ensembl cytogenetic band:  13q14.3   HGNC cytogenetic band: 13q14.3

ATP7B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP7B gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M052506:  view genomic region     (about GC identifiers)

Start:
52,506,805 bp from pter      End:
52,585,630 bp from pter
Size:
78,826 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ATP7B_HUMAN, P35670 (See protein sequence)
Recommended Name: Copper-transporting ATPase 2  
Size: 1465 amino acids; 157263 Da
Subunit: Monomer. Interacts with COMMD1/MURR1. Interacts with DCTN4, in a copper-dependent manner. Interacts with
ATOX1
Sequence caution: Sequence=AAA16173.1; Type=Frameshift; Positions=830; Sequence=AAA79211.1; Type=Frameshift;
Positions=456; Sequence=AAA79212.1; Type=Frameshift; Positions=456;
5 PDB 3D structures from and Proteopedia for ATP7B:
2ARF (3D)        2EW9 (3D)        2KOY (3D)        2LQB (3D)        2ROP (3D)    
Secondary accessions: Q16318 Q16319 Q4U3V3 Q59FJ9 Q5T7X7
Alternative splicing: 4 isoforms:  P35670-1   P35670-2   P35670-3   P35670-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATP7B: NX_P35670

Explore proteomics data for ATP7B at MOPED

Post-translational modifications: 

  • Isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form1
  • Ubiquitination2 at Lys489, Lys607, Lys1028
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP7B (P35670) (see all 30)
     IIRFAFQ  VAMVGDG  ITGMTCA  PALAQAD 


    See ATP7B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000044.2  NP_001005918.1  NP_001230111.1  

    ENSEMBL proteins: 
     ENSP00000242839   ENSP00000383217   ENSP00000342559   ENSP00000416738   ENSP00000383221  
     ENSP00000393343   ENSP00000390360   ENSP00000443128  
    Reactome Protein details: P35670

    ATP7B Human Recombinant Protein Products:

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    OriGene Purified Protein for ATP7B
    OriGene Protein Over-expression Lysate for ATP7B
    OriGene MassSpec for ATP7B
    OriGene Custom Protein Services for ATP7B
    GenScript Custom Purified and Recombinant Proteins Services for ATP7B
    Novus Biologicals ATP7B Protein
    Novus Biologicals ATP7B Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ATP7B 

    ATP7B Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Antibodies for ATP7B
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    Novus Biologicals ATP7B Antibodies
    Abcam antibodies for ATP7B
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for ATP7B
    LSBio Antibodies in human, mouse, rat for ATP7B

    ATP7B Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for ATP7B 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PATP: ATPases / P-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: ATP7B
    Cu2+-ATPase

    Selected InterPro protein domains (see all 9):
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR027256 Cation_transp_P-typ_ATPase_IB
     IPR001757 Cation_transp_P_typ_ATPase
     IPR006122 HMA_Cu_ion-bd

    Graphical View of Domain Structure for InterPro Entry P35670

    ProtoNet protein and cluster: P35670

    4 Blocks protein domains:
    IPB001757 ATPase
    IPB001877 Copper-transporting ATPase 1 signature
    IPB006121 Heavy metal transport/detoxification protein
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: ATP7B_HUMAN, P35670
    Domain: Each HMA domain can bind a copper ion, they are tightly packed and closely interact with each other.
    Wild-type ATP7B can usually be loaded with an average 5.5 copper atoms per molecule
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily
    Similarity: Contains 6 HMA domains


    Find genes that share domains with ATP7B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATP7B_HUMAN, P35670
    Function: Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile
    Catalytic activity: ATP + H(2)O + Cu(+)(Side 1) = ADP + phosphate + Cu(+)(Side 2)

         Genatlas biochemistry entry for ATP7B:
    copper binding P-type ATPase 7B,1-60kDa,expressed in liver,kidney,brain,placenta,with alternatively spliced
    isoforms,tissue specific for brain and liver,and a 140kDa mitochondrial form,formed after proleolytic cleavage at
    the N terminus of ATP7B,involved in subcellular transport and copper efflux

         Enzyme Numbers (IUBMB): EC 3.6.3.541 EC 3.6.3.42 EC 3.6.32

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004008copper-exporting ATPase activity TAS16472602
    GO:0005507copper ion binding IDA12029094
    GO:0005515protein binding IPI16554302
    GO:0005524ATP binding IDA15205462
         
    Find genes that share ontologies with ATP7B           About GenesLikeMe


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Atp7b):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     muscle  nervous system  other  pigmentation  reproductive system 

    Find genes that share phenotypes with ATP7B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Atp7btm1Tcg for ATP7B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP7B
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ATP7B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP7B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP7B

    miRNA
    Products:
        
    miRTarBase miRNAs that target ATP7B:
    hsa-mir-27a-3p (MIRT050033), hsa-mir-222-3p (MIRT046616), hsa-mir-98-5p (MIRT027481), hsa-mir-615-3p (MIRT039780), hsa-mir-26b-5p (MIRT029106), hsa-mir-27b-3p (MIRT046229), hsa-mir-26a-5p (MIRT050131), hsa-mir-616-5p (MIRT039602)

    Block miRNA regulation of human, mouse, rat ATP7B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATP7B (see all 22):
    hsa-let-7d hsa-miR-202 hsa-miR-3138 hsa-let-7c hsa-let-7g hsa-miR-548g hsa-miR-133a hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidATP7B 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ATP7B
    Predesigned siRNA for gene silencing in human, mouse, rat ATP7B

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ATP7B

    Clone
    Products:
         
    OriGene clones in human, mouse for ATP7B (see all 11)
    OriGene ORF clones in mouse, rat for ATP7B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ATP7B (NM_000053)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP7B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP7B
    Addgene plasmids for ATP7B 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ATP7B 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP7B


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATP7B_HUMAN, P35670: Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein (By similarity).
    Note=Predominantly found in the trans-Golgi network (TGN). Not redistributed to the plasma membrane in response
    to elevated copper levels
    ATP7B_HUMAN, P35670: Isoform 2: Cytoplasm
    ATP7B_HUMAN, P35670: WND/140 kDa: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    mitochondrion5
    plasma membrane5
    golgi apparatus4
    lysosome2
    cytosol1
    endoplasmic reticulum1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005739mitochondrion IEA--
    GO:0005770late endosome IDA15681833
    GO:0005802colocalizes with trans-Golgi network IDA15269005
    GO:0005887integral component of plasma membrane TAS8298641

    Find genes that share ontologies with ATP7B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP7B About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3Platinum Pathway, Pharmacokinetics/Pharmacodynamics
    Platinum Pathway, Pharmacokinetics/Pharmacodynamics
    4Ion transport by P-type ATPases
    Ion transport by P-type ATPases


    Find genes that share SuperPaths with ATP7B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ATP7B
        Ion transport by P-type ATPases

    1 PharmGKB Pathway for ATP7B
        Platinum Pathway, Pharmacokinetics/Pharmacodynamics

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP7B: 
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ATP7B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for ATP7B (P356703 ENSP000002428394) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DCTN4Q9UJW03, ENSP000004149064I2D: score=2 STRING: ENSP00000414906
    SH3YL1Q96HL83, ENSP000004041434I2D: score=2 STRING: ENSP00000404143
    GLRXP357543, ENSP000002378584I2D: score=1 STRING: ENSP00000237858
    NSDHLQ157383, ENSP000003592974I2D: score=1 STRING: ENSP00000359297
    ATOX1O002443, ENSP000003168544I2D: score=2 STRING: ENSP00000316854
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----
    GO:0006825copper ion transport IGI12572677
    GO:0006878cellular copper ion homeostasis TAS16554302
    GO:0006882cellular zinc ion homeostasis IEA--
    GO:0007595lactation IEA--

    Find genes that share ontologies with ATP7B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATP7B

    5 HMDB Compounds for ATP7B    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CopperCu (see all 2)7440-50-8--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    3 DrugBank Compounds for ATP7B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CisplatinCDDP (see all 7)15663-27-1transportersubstrate18998134 19075668 19470734
    CarboplatinCBDCA (see all 2)41575-94-4transportersubstrate15213293
    OxaliplatinDiaminocyclohexane Oxalatoplatinum (see all 4)61825-94-3transportersubstrate--

    Selected Novoseek inferred chemical compound relationships for ATP7B gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    copper 90.1 548 16554302 (9), 10982773 (8), 16939419 (7), 19141620 (6) (see all 99)
    acyl phosphate 68.1 1 16939419 (1)
    tetrathiomolybdate 67 1 15703644 (1)
    copper(i) 59.2 3 19645496 (1), 19181666 (1), 16910670 (1)
    cisplatin 58.2 110 19141620 (8), 15102688 (5), 12509969 (5), 12216079 (5) (see all 29)
    oxaliplatin 55.2 5 19296535 (3), 15607932 (1)
    platinum 51.8 12 18636185 (2), 20045993 (2), 19470734 (2), 16775422 (1) (see all 5)
    zinc 43.7 3 9794921 (1), 15703644 (1)
    carboplatin 43.3 10 12869652 (5), 15607932 (1)
    atp 37.5 16 20333758 (2), 11605050 (1), 12426114 (1), 12509969 (1) (see all 10)



    Find genes that share compounds with ATP7B           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATP7B gene (3 alternative transcripts): 
    NM_000053.3  NM_001005918.2  NM_001243182.1  

    Unigene Cluster for ATP7B:

    ATPase, Cu++ transporting, beta polypeptide
    Hs.492280  [show with all ESTs]
    Unigene Representative Sequence: NM_000053
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000242839(uc001vfv.2 uc010tgs.1 uc001vfy.2 uc010adv.2 uc001vfw.2 uc001vfx.2 uc010tgt.1 uc010tgu.1 uc010tgv.1)
    ENST00000482841 ENST00000466629 ENST00000483772 ENST00000400366 ENST00000344297
    ENST00000448424 ENST00000400370 ENST00000418097(uc010tgw.1) ENST00000417240
    ENST00000542656
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ATP7B (see all 22):
    hsa-let-7d hsa-miR-202 hsa-miR-3138 hsa-let-7c hsa-let-7g hsa-miR-548g hsa-miR-133a hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidATP7B 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ATP7B
    Predesigned siRNA for gene silencing in human, mouse, rat ATP7B
    Clone
    Products:
         
    OriGene clones in human, mouse for ATP7B (see all 11)
    OriGene ORF clones in mouse, rat for ATP7B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ATP7B (NM_000053)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP7B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP7B
    Addgene plasmids for ATP7B 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ATP7B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATP7B
      QuantiTect SYBR Green Assays in human, mouse, rat ATP7B
      QuantiFast Probe-based Assays in human, mouse, rat ATP7B

    Additional mRNA sequence: 

    AK302074.1 AK302490.1 BC117200.1 BC143973.1 BC143974.1 BC143975.1 BC143976.1 DQ015922.1 
    L25442.1 U03464.1 U11700.1 

    13 DOTS entries:

    DT.75115355  DT.95158842  DT.441029  DT.120790367  DT.120790421  DT.120790368  DT.95298489  DT.92423664 
    DT.100756494  DT.100669556  DT.100734907  DT.40122019  DT.120790378 

    Selected AceView cDNA sequences (see all 105):

    AU139954 BQ878283 CN482447 AA378967 AA927394 AA620862 BQ083149 AW303610 
    AW189768 BE501990 AA333258 CR606188 BM710907 AA932809 CR591822 AL543205 
    BX092362 AA972449 AW152143 BU682287 AI125518 BX479483 BM834965 N26536 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATP7B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATATTAGA
    ATP7B Expression
    About this image


    ATP7B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Mature Hepatocytes Liver Lobule
     
     Thymus (Hematopoietic System)
             Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ATP7B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP7B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.492280

    UniProtKB/Swiss-Prot: ATP7B_HUMAN, P35670
    Tissue specificity: 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

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP7B: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP7B gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp7b1 , 5 ATPase, Cu++ transporting, beta polypeptide1, 5 83.86(n)1
    83.79(a)1
      8 (10.78 cM)5
    119791  NM_007511.21  NP_031537.21 
     219927855 
    chicken
    (Gallus gallus)
    Aves ATP7B1 ATPase, Cu++ transporting, beta polypeptide 70.35(n)
    71.52(a)
      418879  XM_417073.4  XP_417073.3 
    lizard
    (Anolis carolinensis)
    Reptilia ATP7B6
    ATPase, Cu++ transporting, beta polypeptide
    67(a)
    1 ↔ 1
    1(132811292-132844404)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia atp7b1 ATPase, Cu++ transporting, beta polypeptide 67.69(n)
    69.23(a)
      100497797  XM_002936732.2  XP_002936778.2 
    zebrafish
    (Danio rerio)
    Actinopterygii atp7b1 ATPase, Cu++ transporting, beta polypeptide (Wilson disease) less 64.31(n)
    64.07(a)
      556499  XM_679323.5  XP_684415.5 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CCC2(YDR270W)4 Cu(+2)-transporting P-type ATPase, required for export of copper from the cytosol into an extracytosolic compartment; has similarity to human proteins involved in Menkes and Wilsons diseases less   --   4(1005675-1008689) 851862  NP_010556.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RAN11 RAN1 51.32(n)
    44.95(a)
      834509  NM_123847.2  NP_199292.1 
    rice
    (Oryza sativa)
    Liliopsida AK072990.12   -- 71.67(n)    AK072990.1 


    ENSEMBL Gene Tree for ATP7B (if available)
    TreeFam Gene Tree for ATP7B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP7B gene
    ATP7A2  
    1 SIMAP similar gene for ATP7B using alignment to 36 protein entries:     ATP7B_HUMAN (see all proteins):
    ATP7A

    Find genes that share paralogs with ATP7B           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ATP7B
    PGOHUM00000234894


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP7B (see all 1997)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs609863171,2,,4
    C,FWilson disease (WD)4 probable-pathogenic133446378(+) CGGACG/ATCAGG 6 /T /M mis116Minor allele frequency- A:0.00MN WA EA EU 4035
    rs1812507041,2,,4
    C,FWilson disease (WD)4 --33446544(+) GTCAGG/ACTTCT 6 /P /S mis11Minor allele frequency- A:0.00EU 1319
    rs1998215561,2,,4
    CWilson disease (WD)4 --33449020(+) GACGTC/TGGCTG 6 N D mis10--------
    rs2009114961,2,,4
    CWilson disease (WD)4 --33450589(+) GGCAAT/CAGCTC 6 /I /V mis11Minor allele frequency- C:0.00EU 1323
    rs1826594441,2,,4
    CWilson disease (WD)4 --33453992(+) GGATGC/TCTTCC 6 D G mis10--------
    rs2014973001,2,,4
    Wilson disease (WD)4 --33457863(+) CTGCGC/TGGCCA 6 T A mis10--------
    rs412927821,2,,4
    C,FWilson disease (WD)4 probable-pathogenic133457898(+) TGGGCG/ATGGCC 6 /T /M mis12Minor allele frequency- A:0.00NA EU 1129
    rs600036081,2,,4
    C,FWilson disease (WD)4 --33457971(+) GATGAT/ACACCT 6 /I /F mis111Minor allele frequency- A:0.07MN 1868
    rs1913120271,2,,4
    C,FWilson disease (WD)4 --33461658(+) GCTTCC/TGGGTT 6 R G mis11Minor allele frequency- T:0.00EU 1323
    rs289420741,2,,4
    CWilson disease (WD)4 pathogenic133469859(-) GGGCCG/TGTGGC 5 R L mis1 int1 ese30--------

    HapMap Linkage Disequilibrium report for ATP7B (52506805 - 52585630 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ATP7B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507698CNV Insertion20534489
    nsv900082CNV Gain21882294

    Human Gene Mutation Database (HGMD): ATP7B
    Locus Specific Mutation Databases (LSDB): ATP7B

    Site Specific Mutation Identification with PCR Assays
    2 Copy Number PCR Panels containing ATP7B:
    Oncogenes & Tumor Suppressor Genes 384HC
    Gastric Cancer
    SeqTarget long-range PCR primers for resequencing ATP7B
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP7B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606882   
    OMIM disorders: 277900  
    UniProtKB/Swiss-Prot: ATP7B_HUMAN, P35670
  • Wilson disease (WD) [MIM:277900]: An autosomal recessive disorder of copper metabolism in which copper
    cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper
    accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic
    manifestations and signs of cirrhosis. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 3 diseases for ATP7B:    
    About MalaCards
    wilson disease    menkes disease    anterior segment anomalies with or without cataract

    4 diseases from the University of Copenhagen DISEASES database for ATP7B:
    Wilson disease     Retinopathy of prematurity     Autosomal recessive disease     Menkes disease

    Find genes that share disorders with ATP7B           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ATP7B gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    wilson disease 97.9 274 9837819 (4), 12557139 (4), 11231950 (3), 10777157 (2) (see all 99)
    menkes disease 90.8 26 15634671 (2), 7833924 (1), 9359859 (1), 12181646 (1) (see all 21)
    genetic disorder 50.2 5 14709553 (1), 12557139 (1), 14579150 (1), 15519648 (1) (see all 5)
    ovarian carcinoma 40.3 24 15102688 (8), 12216079 (5), 11605050 (1), 12869652 (1) (see all 7)
    cirrhosis 34.7 1 9949209 (1)
    movement disorders 31.1 3 19572946 (3)
    liver damage 31.1 2 16549536 (1), 20453399 (1)
    liver dysfunction 30.8 2 15511628 (1)
    hepatic failure fulminant 22.7 1 10777157 (1)
    chronic liver disease 18.3 1 16423615 (1)

    GeneTests: ATP7B
    GeneReviews: ATP7B
    Genetic Association Database (GAD): ATP7B
    Human Genome Epidemiology (HuGE) Navigator: ATP7B (38 documents)

    Export disorders for ATP7B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATP7B gene, integrated from 10 sources (see all 388):
    (articles sorted by number of sources associating them with ATP7B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. (PubMed id 15024742)1, 2, 4, 9 Deguti M.M.... Schmidt H.H.-J. (Hum. Mutat. 2004)
    2. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. (PubMed id 14966923)1, 2, 4, 9 Liu X.-Q.... Wang M.-X. (World J. Gastroenterol. 2004)
    3. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. (PubMed id 15967699)1, 2, 4, 9 Vrabelova S.... Kozak L. (Mol. Genet. Metab. 2005)
    4. High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis. (PubMed id 11690702)1, 2, 4, 9 Caca K.... Berr F. (J. Hepatol. 2001)
    5. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. (PubMed id 8298641)1, 2, 3, 9 Tanzi R.E.... Gilliam T.C. (Nat. Genet. 1993)
    6. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. (PubMed id 8298639)1, 2, 3 Bull P.C.... Cox D.W. (Nat. Genet. 1993)
    7. Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A. (PubMed id 16554302)1, 2, 9 Lim C.M.... La Fontaine S. (J. Biol. Chem. 2006)
    8. Mutation analysis of Wilson disease in the Spanish population -identification of a prevalent substitution and eight novel mutations in the ATP7B gene. (PubMed id 15952988)1, 2, 9 Margarit E....Ballesta F. (Clin. Genet. 2005)
    9. [Rapid detection of common ATP7B mutations in Wilson disease by high resolution melting analysis]. (PubMed id 18841562)1, 4, 9 Zhao X....Zhang X. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008)
    10. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease. (PubMed id 16211609)1, 4, 9 Gromadzka G....CzA8onkowska A. (Mov. Disord. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 540 HGNC: 870 AceView: ATP7B Ensembl:ENSG00000123191 euGenes: HUgn540
    ECgene: ATP7B H-InvDB: ATP7B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATP7B Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATP7B[genesymbol]
    Wilson Disease Mutation Databasehttp://www.medicalgenetics.med.ualberta.ca/wilson/index.php

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP7B gene:
    Search GeneIP for patents involving ATP7B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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