U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 540, updated on 3-Nov-2024

    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; AllianceGenome:HGNC:870
    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 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]
    Expression
    Broad expression in testis (RPKM 5.6), duodenum (RPKM 4.2) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ATP7B in Genome Data Viewer
    Location:
    13q14.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (51932669..52012132, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (51147339..51226948, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (52506805..52586268, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 272 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:52435707-52436906 Neighboring gene coiled-coil domain containing 70 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:52501865-52503064 Neighboring gene CTAGE family member 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7784 Neighboring gene fatty acid binding protein 5 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 15635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5380 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7786 Neighboring gene ALG11 alpha-1,2-mannosyltransferase Neighboring gene UTP14C small subunit processome component Neighboring gene NIMA related kinase 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:52653033-52653791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:52653792-52654549 Neighboring gene Sharpr-MPRA regulatory region 10224 Neighboring gene Sharpr-MPRA regulatory region 2352 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:52696487-52696693 Neighboring gene uncharacterized LOC101929657

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables P-type divalent copper transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables P-type divalent copper transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables P-type divalent copper transporter activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables P-type divalent copper transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables P-type monovalent copper transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables copper ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables copper ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables copper ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in copper ion export IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in copper ion import IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in copper ion import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in copper ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in copper ion transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in copper ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular copper ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular copper ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in intracellular zinc ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lactation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in protein maturation by copper ion transfer IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to copper ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sequestering of calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in viral translational frameshifting IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in xenobiotic detoxification by transmembrane export across the plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in 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 
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in mitochondrion HTP PubMed 
    colocalizes_with perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    colocalizes_with trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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
    NP_001393440.1
    NP_001393441.1
    NP_001393442.1
    NP_001393443.1
    NP_001393444.1
    NP_001393445.1
    NP_001393446.1
    NP_001393447.1
    NP_001393448.1
    NP_001393449.1
    NP_001393450.1
    NP_001393451.1
    NP_001393452.1
    NP_001393453.1
    NP_001393454.1
    NP_001393455.1
    NP_001393456.1
    NP_001393457.1
    NP_001393459.1
    NP_001393460.1
    NP_001393461.1
    NP_001393463.1
    NP_001393464.1
    NP_001393465.1
    NP_001393466.1
    NP_001393467.1
    NP_001393468.1
    NP_001393469.1
    NP_001393470.1
    NP_001393471.1
    NP_001393472.1
    NP_001393473.1
    NP_001393474.1
    NP_001393475.1
    NP_001393476.1
    NP_001393477.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5045..83826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000053.4 → NP_000044.2  copper-transporting ATPase 2 isoform a

      See identical proteins and their annotated locations for NP_000044.2

      Status: REVIEWED

      Source sequence(s)
      AL162377, BC143976, BU682287, DA125470, U11700
      Consensus CDS
      CCDS41892.1
      UniProtKB/Swiss-Prot
      P35670, Q16318, Q16319, Q4U3V3, Q59FJ9, Q5T7X7
      UniProtKB/TrEMBL
      B7ZLR2
      Related
      ENSP00000242839.5, ENST00000242839.10
      Conserved Domains (4) summary
      COG2217
      Location:566 → 1355
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:1206 → 1309
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:363 → 425
      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:769 → 1016
      E1-E2_ATPase; E1-E2 ATPase
    2. NM_001005918.3 → NP_001005918.1  copper-transporting ATPase 2 isoform b

      See identical proteins and their annotated locations for NP_001005918.1

      Status: REVIEWED

      Source sequence(s)
      AL162377, BC143976, BU682287, DA125470
      Consensus CDS
      CCDS45049.1
      UniProtKB/TrEMBL
      B7ZLR3
      Related
      ENSP00000500964.2, ENST00000674147.2
      Conserved Domains (4) summary
      COG2217
      Location:360 → 1148
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:999 → 1102
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:363 → 425
      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:621 → 809
      E1-E2_ATPase; E1-E2 ATPase
    3. NM_001243182.2 → NP_001230111.1  copper-transporting ATPase 2 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL162377, BC143976, BU682287, DA125470, DQ015922
      Consensus CDS
      CCDS58293.1
      UniProtKB/TrEMBL
      B7ZLR2
      Related
      ENSP00000383217.3, ENST00000400366.6
      Conserved Domains (4) summary
      COG2217
      Location:455 → 1244
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:1095 → 1198
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:146 → 209
      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:658 → 905
      E1-E2_ATPase; E1-E2 ATPase
    4. NM_001330578.2 → NP_001317507.1  copper-transporting ATPase 2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL162377, BC143975, BC143976, BU682287, DA125470, U11700
      Consensus CDS
      CCDS81768.1
      UniProtKB/TrEMBL
      A0A669KB88, B7ZLR3
      Related
      ENSP00000501168.1, ENST00000673772.1
      Conserved Domains (4) summary
      COG2217
      Location:566 → 1277
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:1128 → 1231
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:363 → 425
      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:694 → 938
      E1-E2_ATPase; E1-E2 ATPase
    5. NM_001330579.2 → NP_001317508.1  copper-transporting ATPase 2 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL162377, BC143976, BU682287, DA125470, U11700
      Consensus CDS
      CCDS91810.1
      UniProtKB/TrEMBL
      B7ZLR3, E7ET55
      Related
      ENSP00000416738.3, ENST00000448424.7
      Conserved Domains (4) summary
      COG4087
      Location:1122 → 1225
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:363 → 425
      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:626 → 1271
      ATPase-IB1_Cu; copper-(or silver)-translocating P-type ATPase
      pfam00122
      Location:685 → 932
      E1-E2_ATPase; E1-E2 ATPase
    6. NM_001406511.1 → NP_001393440.1  copper-transporting ATPase 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
      Consensus CDS
      CCDS41892.1
      UniProtKB/Swiss-Prot
      P35670, Q16318, Q16319, Q4U3V3, Q59FJ9, Q5T7X7
    7. NM_001406512.1 → NP_001393441.1  copper-transporting ATPase 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
      UniProtKB/Swiss-Prot
      P35670, Q16318, Q16319, Q4U3V3, Q59FJ9, Q5T7X7
    8. NM_001406513.1 → NP_001393442.1  copper-transporting ATPase 2 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    9. NM_001406514.1 → NP_001393443.1  copper-transporting ATPase 2 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    10. NM_001406515.1 → NP_001393444.1  copper-transporting ATPase 2 isoform h

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    11. NM_001406516.1 → NP_001393445.1  copper-transporting ATPase 2 isoform h

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    12. NM_001406517.1 → NP_001393446.1  copper-transporting ATPase 2 isoform i

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL162377
    13. NM_001406518.1 → NP_001393447.1  copper-transporting ATPase 2 isoform i

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    14. NM_001406519.1 → NP_001393448.1  copper-transporting ATPase 2 isoform j

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    15. NM_001406520.1 → NP_001393449.1  copper-transporting ATPase 2 isoform k

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
      UniProtKB/TrEMBL
      B7ZLR4
      Related
      ENSP00000489398.1, ENST00000634844.1
    16. NM_001406521.1 → NP_001393450.1  copper-transporting ATPase 2 isoform k

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
      UniProtKB/TrEMBL
      B7ZLR4
    17. NM_001406522.1 → NP_001393451.1  copper-transporting ATPase 2 isoform k

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
      UniProtKB/TrEMBL
      B7ZLR4
    18. NM_001406523.1 → NP_001393452.1  copper-transporting ATPase 2 isoform m

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    19. NM_001406524.1 → NP_001393453.1  copper-transporting ATPase 2 isoform l

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    20. NM_001406525.1 → NP_001393454.1  copper-transporting ATPase 2 isoform n

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
      UniProtKB/TrEMBL
      F5H748
      Related
      ENSP00000393343.2, ENST00000418097.7
    21. NM_001406526.1 → NP_001393455.1  copper-transporting ATPase 2 isoform o

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    22. NM_001406527.1 → NP_001393456.1  copper-transporting ATPase 2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
      Consensus CDS
      CCDS81768.1
      UniProtKB/TrEMBL
      A0A669KB88
    23. NM_001406528.1 → NP_001393457.1  copper-transporting ATPase 2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
      UniProtKB/TrEMBL
      A0A669KB88
    24. NM_001406530.1 → NP_001393459.1  copper-transporting ATPase 2 isoform p

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL162377
    25. NM_001406531.1 → NP_001393460.1  copper-transporting ATPase 2 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
      Consensus CDS
      CCDS91810.1
      UniProtKB/TrEMBL
      E7ET55
    26. NM_001406532.1 → NP_001393461.1  copper-transporting ATPase 2 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
      UniProtKB/TrEMBL
      E7ET55
    27. NM_001406534.1 → NP_001393463.1  copper-transporting ATPase 2 isoform q

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    28. NM_001406535.1 → NP_001393464.1  copper-transporting ATPase 2 isoform r

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    29. NM_001406536.1 → NP_001393465.1  copper-transporting ATPase 2 isoform s

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL162377
    30. NM_001406537.1 → NP_001393466.1  copper-transporting ATPase 2 isoform t

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    31. NM_001406538.1 → NP_001393467.1  copper-transporting ATPase 2 isoform u

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    32. NM_001406539.1 → NP_001393468.1  copper-transporting ATPase 2 isoform v

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    33. NM_001406540.1 → NP_001393469.1  copper-transporting ATPase 2 isoform w

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    34. NM_001406541.1 → NP_001393470.1  copper-transporting ATPase 2 isoform x

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
      UniProtKB/TrEMBL
      A0AAQ5BGL6
    35. NM_001406542.1 → NP_001393471.1  copper-transporting ATPase 2 isoform x

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
      UniProtKB/TrEMBL
      A0AAQ5BGL6
      Related
      ENSP00000518962.1, ENST00000713660.1
    36. NM_001406543.1 → NP_001393472.1  copper-transporting ATPase 2 isoform y

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    37. NM_001406544.1 → NP_001393473.1  copper-transporting ATPase 2 isoform z

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL162377
    38. NM_001406545.1 → NP_001393474.1  copper-transporting ATPase 2 isoform aa

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
      UniProtKB/TrEMBL
      A0AAQ5BGP2
      Related
      ENSP00000518961.1, ENST00000713659.1
    39. NM_001406546.1 → NP_001393475.1  copper-transporting ATPase 2 isoform bb

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    40. NM_001406547.1 → NP_001393476.1  copper-transporting ATPase 2 isoform cc

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
    41. NM_001406548.1 → NP_001393477.1  copper-transporting ATPase 2 isoform dd

      Status: REVIEWED

      Source sequence(s)
      AL138821, AL139082, AL162377
      UniProtKB/TrEMBL
      F5H562
      Related
      ENSP00000383221.3, ENST00000400370.8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      51932669..52012132 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      51147339..51226948 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)