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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000053 Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $1198.00 $1149.00 TBD
NM_001005918 Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_001243182 Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005266423 PREDICTED: Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005266424 PREDICTED: Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005266427 PREDICTED: Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005266428 PREDICTED: Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant X6, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005266429 PREDICTED: Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant X7, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005266430 PREDICTED: Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant X8, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005266431 PREDICTED: Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant X9, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005266432 PREDICTED: Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant X10, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006719837 PREDICTED: Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant X11, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006719838 PREDICTED: Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant X12, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006719839 PREDICTED: Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant X13, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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Gene Symbol ATP7B
Entrez Gene ID 540
Full Name ATPase, Cu++ transporting, beta polypeptide
Synonyms PWD, WC1, WD, WND
General protein information
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
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

13

13q14.3

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].
Disorder

MIM: 606882

Wilson disease, 277900 (3)

mRNA Protein Product Sequence Price Select
NM_000053, 342187240 NP_000044, 55743071 copper-transporting ATPase 2 isoform a ORF Sequence $999.00
NM_001005918, 342187241 NP_001005918, 55743073 copper-transporting ATPase 2 isoform b ORF Sequence $1500.00
NM_001243182, 342187273 NP_001230111, 342187274 copper-transporting ATPase 2 isoform c ORF Sequence $1500.00
XM_005266423, 530402435 XP_005266480, 530402436 copper-transporting ATPase 2 isoform X1 ORF Sequence $1500.00
XM_005266424, 578824918 XP_005266481, 530402438 copper-transporting ATPase 2 isoform X2 ORF Sequence $1500.00
XM_005266427, 578824922 XP_005266484, 530402444 copper-transporting ATPase 2 isoform X5 ORF Sequence $1500.00
XM_005266428, 530402445 XP_005266485, 530402446 copper-transporting ATPase 2 isoform X6 ORF Sequence $1500.00
XM_005266429, 578824923 XP_005266486, 530402448 copper-transporting ATPase 2 isoform X7 ORF Sequence $1500.00
XM_005266430, 578824924 XP_005266487, 530402450 copper-transporting ATPase 2 isoform X8 ORF Sequence $1500.00
XM_005266431, 530402451 XP_005266488, 530402452 copper-transporting ATPase 2 isoform X9 ORF Sequence $1500.00
XM_005266432, 578824925 XP_005266489, 530402454 copper-transporting ATPase 2 isoform X10 ORF Sequence $1500.00
XM_006719837, 578824919 XP_006719900, 578824920 copper-transporting ATPase 2 isoform X11 ORF Sequence $1500.00
XM_006719838, 578824926 XP_006719901, 578824927 copper-transporting ATPase 2 isoform X12 ORF Sequence $700.00
XM_006719839, 578824928 XP_006719902, 578824929 copper-transporting ATPase 2 isoform X13 ORF Sequence $700.00
Reactome
REACT_15518Transmembrane transport of small molecules
REACT_25149Ion transport by P-type ATPases
REACT_25300Ion channel transport
Homo sapiens (human)ATP7BNP_000044.2
Pan troglodytes (chimpanzee)LOC452734XP_003314205.1
Macaca mulatta (Rhesus monkey)ATP7BXP_001103242.2
Canis lupus familiaris (dog)ATP7BNP_001020438.1
Bos taurus (cattle)ATP7BXP_002691840.1
Mus musculus (house mouse)Atp7bNP_031537.2
Rattus norvegicus (Norway rat)Atp7bNP_036643.2
Gallus gallus (chicken)ATP7BXP_417073.3
Danio rerio (zebrafish)atp7bXP_684415.5
Arabidopsis thaliana (thale cress)RAN1NP_199292.1
Xenopus (Silurana) tropicalis (western clawed frog)atp7bXP_002936778.2
Process
IDNameEvidence
GO:0006825copper ion transportIGI
GO:0006878cellular copper ion homeostasisTAS
GO:0006882cellular zinc ion homeostasisIEA
GO:0007595lactationIEA
GO:0008152metabolic processIEA
GO:0015677copper ion importIDA
GO:0015680intracellular copper ion transportIEA
GO:0034220ion transmembrane transportTAS
GO:0046688response to copper ionIDA
GO:0051208sequestering of calcium ionIDA
GO:0055085transmembrane transportTAS
GO:0060003copper ion exportIEA
Component
IDNameEvidence
GO:0000139Golgi membraneTAS
GO:0005739mitochondrionIEA
GO:0005770late endosomeIDA
GO:0005802trans-Golgi networkIDA
GO:0005887integral component of plasma membraneTAS
GO:0016020membraneIDA
GO:0016023cytoplasmic membrane-bounded vesicleIDA
GO:0016323basolateral plasma membraneIDA
GO:0048471perinuclear region of cytoplasmIDA
Function
IDNameEvidence
GO:0004008copper-exporting ATPase activityNAS
GO:0004008copper-exporting ATPase activityTAS
GO:0005507copper ion bindingIDA
GO:0005515protein bindingIPI
GO:0005524ATP bindingIDA
GeneCards ATP7B
UniProt E7EQQ2, B7ZLR4, P35670, E7ET55
Vega OTTHUMG00000017406
MIM 606882
Ensembl ENSG00000123191
HGNC 870
HPRD 06050

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the ATP7B gene?

The ATP7B gene provides instructions for making a protein called copper-transporting ATPase 2. This protein is part of the P-type ATPase family, a group of proteins that transport metals into and out of cells by using energy stored in the molecule adenosine triphosphate (ATP). Copper-transporting ATPase 2 is found primarily in the liver, with smaller amounts in the kidneys and brain. It plays a role in the transport of copper from the liver to other parts of the body. Copper is an important part of certain enzymes that maintain normal cell functions. Copper-transporting ATPase 2 is also important for the removal of excess copper from the body.

Within liver cells, copper-transporting ATPase 2 is found in a structure called the Golgi apparatus, which modifies newly produced enzymes and other proteins. Here, copper-transporting ATPase 2 supplies copper to a protein called ceruloplasmin, which transports copper to other parts of the body via the blood. If copper levels in the liver get too high, copper-transporting ATPase 2 leaves the Golgi and transfers copper to small sacs (vesicles) for elimination through bile. Bile is a substance produced by the liver that is important for digestion and the removal of waste products.

Interactant

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