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    ATP7B ATPase copper transporting beta [ Homo sapiens (human) ]

    Gene ID: 540, updated on 8-Dec-2018

    Summary

    Official Symbol
    ATP7Bprovided by HGNC
    Official Full Name
    ATPase copper transporting betaprovided by HGNC
    Primary source
    HGNC:HGNC:870
    See related
    Ensembl:ENSG00000123191 MIM:606882
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WD; PWD; WC1; WND
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 5.6), duodenum (RPKM 4.2) and 22 other tissues See more
    Orthologs

    Genomic context

    See ATP7B in Genome Data Viewer
    Location:
    13q14.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (51932669..52012130, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (52506805..52586181, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 70 Neighboring gene CTAGE family member 3, pseudogene Neighboring gene fatty acid binding protein 5 pseudogene 2 Neighboring gene ALG11, alpha-1,2-mannosyltransferase Neighboring gene UTP14C, small subunit processome component Neighboring gene NIMA related kinase 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Copper homeostasis, organism-specific biosystem (from WikiPathways)
      Copper homeostasis, organism-specific biosystemCopper is a redox-active transition metal and an essential trace element for life. It is a catalytic cofactor for numerous enzymes involved in critical biological processes (eg. detoxyfication by oxy...
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Ion transport by P-type ATPases, organism-specific biosystem (from REACTOME)
      Ion transport by P-type ATPases, organism-specific biosystemThe P-type ATPases (E1-E2 ATPases) are a large group of evolutionarily related ion pumps that are found in bacteria, archaea and eukaryotes. They are referred to as P-type ATPases because they catal...
    • Platinum drug resistance, organism-specific biosystem (from KEGG)
      Platinum drug resistance, organism-specific biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Platinum drug resistance, conserved biosystem (from KEGG)
      Platinum drug resistance, conserved biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    copper ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    copper ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    copper-exporting ATPase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    copper-exporting ATPase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    copper-transporting ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    copper-transporting ATPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    copper-transporting ATPase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP hydrolysis coupled cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cellular copper ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular zinc ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    copper ion export IEA
    Inferred from Electronic Annotation
    more info
     
    copper ion import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    copper ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    copper ion transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    copper ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    lactation IEA
    Inferred from Electronic Annotation
    more info
     
    protein maturation by copper ion transfer IEA
    Inferred from Electronic Annotation
    more info
     
    response to copper ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sequestering of calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    colocalizes_with basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane HDA PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    colocalizes_with perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    colocalizes_with trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    trans-Golgi network membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    copper-transporting ATPase 2
    Names
    ATPase, Cu(2+)- transporting, beta polypeptide
    ATPase, Cu++ transporting, beta polypeptide
    Wilson disease-associated protein
    copper pump 2
    copper-transporting protein ATP7B
    NP_000044.2
    NP_001005918.1
    NP_001230111.1
    NP_001317507.1
    NP_001317508.1
    XP_005266480.1
    XP_005266481.1
    XP_005266487.1
    XP_005266488.1
    XP_006719900.1
    XP_011533419.1
    XP_016876116.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008806.1 RefSeqGene

      Range
      5001..83826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000053.3NP_000044.2  copper-transporting ATPase 2 isoform a

      See identical proteins and their annotated locations for NP_000044.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (a).
      Source sequence(s)
      AL162377, BC143976, BU682287, DA125470, U11700
      Consensus CDS
      CCDS41892.1
      UniProtKB/Swiss-Prot
      P35670
      UniProtKB/TrEMBL
      A0A024RDX3, B7ZLR4
      Related
      ENSP00000242839.4, ENST00000242839.8
      Conserved Domains (4) summary
      COG2217
      Location:5661355
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:12061309
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:363425
      HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...
      pfam00122
      Location:7691016
      E1-E2_ATPase; E1-E2 ATPase
    2. NM_001005918.2NP_001005918.1  copper-transporting ATPase 2 isoform b

      See identical proteins and their annotated locations for NP_001005918.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (b) is shorter than isoform a.
      Source sequence(s)
      AL162377, BC143976, BU682287, DA125470
      Consensus CDS
      CCDS45049.1
      UniProtKB/TrEMBL
      B7ZLR4
      Related
      ENSP00000342559.5, ENST00000344297.8
      Conserved Domains (4) summary
      COG2217
      Location:3601148
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:9991102
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:363425
      HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...
      pfam00122
      Location:621809
      E1-E2_ATPase; E1-E2 ATPase
    3. NM_001243182.1NP_001230111.1  copper-transporting ATPase 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame segment in the coding region, compared to variant 1. The resulting isoform (c) lacks an internal segment, compared to isoform a.
      Source sequence(s)
      AL162377, BC143976, BU682287, DA125470, DQ015922
      Consensus CDS
      CCDS58293.1
      UniProtKB/Swiss-Prot
      P35670
      UniProtKB/TrEMBL
      B7ZLR4
      Related
      ENSP00000383217.3, ENST00000400366.5
      Conserved Domains (4) summary
      COG2217
      Location:4551244
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:10951198
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:146209
      HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...
      pfam00122
      Location:658905
      E1-E2_ATPase; E1-E2 ATPase
    4. NM_001330578.1NP_001317507.1  copper-transporting ATPase 2 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon in the central coding region but maintains the reading frame, compared to variant 1. The resulting isoform (d) is shorter than isoform a.
      Source sequence(s)
      AL162377, BC143975, BC143976, BU682287, DA125470, U11700
      Consensus CDS
      CCDS81768.1
      UniProtKB/Swiss-Prot
      P35670
      UniProtKB/TrEMBL
      B7ZLR3, B7ZLR4, E7ET55
      Related
      ENSP00000416738.2, ENST00000448424.6
      Conserved Domains (4) summary
      COG2217
      Location:5661277
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:11281231
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:363425
      HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...
      pfam00122
      Location:694938
      E1-E2_ATPase; E1-E2 ATPase
    5. NM_001330579.1NP_001317508.1  copper-transporting ATPase 2 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two consecutive alternate exons in the central coding region but maintains the reading frame, compared to variant 1. The resulting isoform (e) is shorter than isoform a.
      Source sequence(s)
      AL162377, BC143976, BU682287, DA125470, U11700
      UniProtKB/Swiss-Prot
      P35670
      UniProtKB/TrEMBL
      B7ZLR4
      Conserved Domains (4) summary
      COG4087
      Location:11221225
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:363425
      HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...
      TIGR01511
      Location:6261271
      ATPase-IB1_Cu; copper-(or silver)-translocating P-type ATPase
      pfam00122
      Location:685932
      E1-E2_ATPase; E1-E2 ATPase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      51932669..52012130 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266430.4XP_005266487.1  copper-transporting ATPase 2 isoform X1

      See identical proteins and their annotated locations for XP_005266487.1

      UniProtKB/Swiss-Prot
      P35670
      UniProtKB/TrEMBL
      A0A024RDX3
      Conserved Domains (4) summary
      COG2217
      Location:5661355
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:12061309
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:363425
      HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...
      pfam00122
      Location:7691016
      E1-E2_ATPase; E1-E2 ATPase
    2. XM_011535117.3XP_011533419.1  copper-transporting ATPase 2 isoform X3

      See identical proteins and their annotated locations for XP_011533419.1

      Conserved Domains (4) summary
      COG2217
      Location:5341323
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:11741277
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:331393
      HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...
      pfam00122
      Location:737984
      E1-E2_ATPase; E1-E2 ATPase
    3. XM_005266431.4XP_005266488.1  copper-transporting ATPase 2 isoform X2

      Conserved Domains (4) summary
      COG2217
      Location:5541343
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:11941297
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:351413
      HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...
      pfam00122
      Location:7571004
      E1-E2_ATPase; E1-E2 ATPase
    4. XM_006719837.3XP_006719900.1  copper-transporting ATPase 2 isoform X3

      See identical proteins and their annotated locations for XP_006719900.1

      Conserved Domains (4) summary
      COG2217
      Location:5341323
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:11741277
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:331393
      HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...
      pfam00122
      Location:737984
      E1-E2_ATPase; E1-E2 ATPase
    5. XM_017020627.1XP_016876116.1  copper-transporting ATPase 2 isoform X3

      Conserved Domains (4) summary
      COG2217
      Location:5341323
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:11741277
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:331393
      HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...
      pfam00122
      Location:737984
      E1-E2_ATPase; E1-E2 ATPase
    6. XM_005266424.4XP_005266481.1  copper-transporting ATPase 2 isoform X3

      See identical proteins and their annotated locations for XP_005266481.1

      Conserved Domains (4) summary
      COG2217
      Location:5341323
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:11741277
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:331393
      HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...
      pfam00122
      Location:737984
      E1-E2_ATPase; E1-E2 ATPase
    7. XM_005266423.2XP_005266480.1  copper-transporting ATPase 2 isoform X3

      See identical proteins and their annotated locations for XP_005266480.1

      Conserved Domains (4) summary
      COG2217
      Location:5341323
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:11741277
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:331393
      HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...
      pfam00122
      Location:737984
      E1-E2_ATPase; E1-E2 ATPase

    RNA

    1. XR_941604.1 RNA Sequence

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