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

Gene ID: 540, updated on 10-Oct-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
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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)