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

Gene ID: 540, updated on 8-Jul-2021

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 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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Genomic context

See ATP7B in Genome Data Viewer
Location:
13q14.3
Exon count:
29
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (51932669..52012130, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (52506805..52585586, 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 Neighboring gene Sharpr-MPRA regulatory region 2352

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 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

Homology

Gene Ontology Provided by GOA

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)

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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_000053.4NP_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
    ENSP00000242839.5, ENST00000242839.10
    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_001005918.3NP_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, ENST00000344297.9
    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_001243182.2NP_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, ENST00000400366.6
    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_001330578.2NP_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
    ENSP00000501168.1, ENST00000673772.1
    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_001330579.2NP_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
    Related
    ENSP00000416738.3, ENST00000448424.7
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 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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