Display Settings:

Format

Send to:

Choose Destination

ATP7B ATPase, Cu++ transporting, beta polypeptide [ Homo sapiens (human) ]

Gene ID: 540, updated on 19-Jul-2014
Official Symbol
ATP7Bprovided by HGNC
Official Full Name
ATPase, Cu++ transporting, beta polypeptideprovided by HGNC
Primary source
HGNC:870
Locus tag
RP11-327P2.1
See related
Ensembl:ENSG00000123191; HPRD:06050; MIM:606882; Vega:OTTHUMG00000017406
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]
See ATP7B in Epigenomics, MapViewer
Location:
13q14.3
Exon count:
28
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 13 NC_000013.11 (51905617..52012109, 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 long intergenic non-protein coding RNA 282 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 serine/threonine-protein kinase Nek5-like Neighboring gene UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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-exporting ATPase activity NAS
Non-traceable Author Statement
more info
PubMed 
copper-exporting ATPase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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 IGI
Inferred from Genetic Interaction
more info
PubMed 
intracellular copper ion transport IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
lactation IEA
Inferred from Electronic Annotation
more info
 
metabolic process 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 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
colocalizes_with basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with cytoplasmic membrane-bounded 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 IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
copper-transporting ATPase 2
Names
copper-transporting ATPase 2
copper pump 2
Wilson disease-associated protein
ATPase, Cu(2+)- transporting, beta polypeptide
NP_000044.2
NP_001005918.1
NP_001230111.1

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 

    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 proteins identical to 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/TrEMBL
    B7ZLR4
    UniProtKB/Swiss-Prot
    P35670
    Related
    ENSP00000242839, OTTHUMP00000018794, ENST00000242839, OTTHUMT00000045981
    Conserved Domains (4) summary
    cd01427
    Location:11791284
    Blast Score: 99
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    COG2217
    Location:5661355
    Blast Score: 1981
    ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
    cd00371
    Location:363425
    Blast Score: 219
    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
    Blast Score: 534
    E1-E2_ATPase; E1-E2 ATPase
  2. NM_001005918.2NP_001005918.1  copper-transporting ATPase 2 isoform b

    See proteins identical to 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. This variant encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AL162377, BC143976, BU682287, DA125470
    Consensus CDS
    CCDS45049.1
    UniProtKB/TrEMBL
    B7ZLR4
    Related
    ENSP00000342559, ENST00000344297
    Conserved Domains (4) summary
    cd01427
    Location:9721077
    Blast Score: 99
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    COG2217
    Location:3601148
    Blast Score: 1500
    ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
    cd00371
    Location:363425
    Blast Score: 215
    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
    Blast Score: 409
    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 1.
    Source sequence(s)
    AL162377, BC143976, BU682287, DA125470, DQ015922
    Consensus CDS
    CCDS58293.1
    UniProtKB/TrEMBL
    B7ZLR4
    UniProtKB/Swiss-Prot
    P35670
    Related
    ENSP00000383217, ENST00000400366
    Conserved Domains (4) summary
    cd01427
    Location:10681173
    Blast Score: 98
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    COG2217
    Location:4551244
    Blast Score: 1973
    ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
    cd00371
    Location:146209
    Blast Score: 199
    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
    Blast Score: 532
    E1-E2_ATPase; E1-E2 ATPase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000013.11 

    Range
    51905617..52012109
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266430.2XP_005266487.1  

    See proteins identical to XP_005266487.1

    UniProtKB/Swiss-Prot
    P35670
    Conserved Domains (4) summary
    cd01427
    Location:11791284
    Blast Score: 99
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    COG2217
    Location:5661355
    Blast Score: 1981
    ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
    cd00371
    Location:363425
    Blast Score: 219
    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
    Blast Score: 534
    E1-E2_ATPase; E1-E2 ATPase
  2. XM_005266432.2XP_005266489.1  

    Conserved Domains (4) summary
    cd01427
    Location:10171122
    Blast Score: 99
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    COG2217
    Location:3601193
    Blast Score: 1638
    ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
    cd00371
    Location:363425
    Blast Score: 216
    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:621854
    Blast Score: 497
    E1-E2_ATPase; E1-E2 ATPase
  3. XM_005266428.1XP_005266485.1  

    Conserved Domains (4) summary
    cd01427
    Location:10951200
    Blast Score: 99
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    TIGR01511
    Location:6261271
    Blast Score: 1922
    ATPase-IB1_Cu; copper-(or silver)-translocating P-type ATPase
    cd00371
    Location:363425
    Blast Score: 217
    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:685932
    Blast Score: 533
    E1-E2_ATPase; E1-E2 ATPase
  4. XM_005266427.2XP_005266484.1  

    UniProtKB/TrEMBL
    E7ET55
    Related
    ENSP00000416738
    Conserved Domains (4) summary
    cd01427
    Location:11011206
    Blast Score: 99
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    COG2217
    Location:5661277
    Blast Score: 1723
    ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
    cd00371
    Location:363425
    Blast Score: 219
    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
    Blast Score: 503
    E1-E2_ATPase; E1-E2 ATPase
  5. XM_005266429.2XP_005266486.1  

    Conserved Domains (4) summary
    cd01427
    Location:10691174
    Blast Score: 99
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    COG2217
    Location:5661245
    Blast Score: 1570
    ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
    cd00371
    Location:363425
    Blast Score: 219
    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:769907
    Blast Score: 344
    E1-E2_ATPase; E1-E2 ATPase
  6. XM_005266431.1XP_005266488.1  

    Conserved Domains (4) summary
    cd01427
    Location:11671272
    Blast Score: 99
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    COG2217
    Location:5541343
    Blast Score: 1980
    ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
    cd00371
    Location:351413
    Blast Score: 219
    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
    Blast Score: 534
    E1-E2_ATPase; E1-E2 ATPase
  7. XM_006719837.1XP_006719900.1  

    See proteins identical to XP_006719900.1

    Conserved Domains (4) summary
    cd01427
    Location:11471252
    Blast Score: 98
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    COG2217
    Location:5341323
    Blast Score: 1979
    ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
    cd00371
    Location:331393
    Blast Score: 219
    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
    Blast Score: 533
    E1-E2_ATPase; E1-E2 ATPase
  8. XM_005266424.2XP_005266481.1  

    See proteins identical to XP_005266481.1

    Conserved Domains (4) summary
    cd01427
    Location:11471252
    Blast Score: 98
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    COG2217
    Location:5341323
    Blast Score: 1979
    ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
    cd00371
    Location:331393
    Blast Score: 219
    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
    Blast Score: 533
    E1-E2_ATPase; E1-E2 ATPase
  9. XM_005266423.1XP_005266480.1  

    See proteins identical to XP_005266480.1

    Conserved Domains (4) summary
    cd01427
    Location:11471252
    Blast Score: 98
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    COG2217
    Location:5341323
    Blast Score: 1979
    ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
    cd00371
    Location:331393
    Blast Score: 219
    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
    Blast Score: 533
    E1-E2_ATPase; E1-E2 ATPase
  10. XM_006719839.1XP_006719902.1  

    UniProtKB/TrEMBL
    E7EQQ2
    Conserved Domains (3) summary
    cd01427
    Location:390495
    Blast Score: 93
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    TIGR01511
    Location:1566
    Blast Score: 1644
    ATPase-IB1_Cu; copper-(or silver)-translocating P-type ATPase
    pfam00122
    Location:41288
    Blast Score: 519
    E1-E2_ATPase; E1-E2 ATPase
  11. XM_006719838.1XP_006719901.1  

    Conserved Domains (3) summary
    cd01427
    Location:451556
    Blast Score: 93
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    TIGR01511
    Location:1627
    Blast Score: 1803
    ATPase-IB1_Cu; copper-(or silver)-translocating P-type ATPase
    pfam00122
    Location:41288
    Blast Score: 517
    E1-E2_ATPase; E1-E2 ATPase

RNA

  1. XR_429217.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000145.1 

    Range
    33295317..33374147
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 

    Range
    52473433..52553190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)