Wilson disease protein

ATPase, Cu++ transporting, beta polypeptide

PDB rendering based on 2arf.

Available structures

Ortholog search: PDBe, RCSB

List of PDB id codes
2ARF, 2EW9, 2KOY, 2LQB, 2ROP

Identifiers

Symbols

ATP7B ; PWD; WC1; WD; WND

External IDs

OMIM: 606882 MGI: 103297 HomoloGene: 20063 IUPHAR: 853 GeneCards: ATP7B Gene

EC number

3.6.3.54

Gene ontology
Molecular function	• copper-exporting ATPase activity • copper ion binding • protein binding • ATP binding
Cellular component	• Golgi membrane • mitochondrion • late endosome • trans-Golgi network • integral component of plasma membrane • membrane • cytoplasmic membrane-bounded vesicle • basolateral plasma membrane • perinuclear region of cytoplasm
Biological process	• copper ion transport • cellular copper ion homeostasis • cellular zinc ion homeostasis • lactation • metabolic process • copper ion import • intracellular copper ion transport • ion transmembrane transport • response to copper ion • sequestering of calcium ion • transmembrane transport • copper ion export
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 13:
52.51 – 52.59 Mb

Chr 8:
21.99 – 22.06 Mb

PubMed search

Wilson disease-associated protein also known as copper-transporting ATPase 2 and copper pump 2 is a protein that in humans is encoded by the ATP7B gene. Wilson disease protein is an ATPase that transports copper.

Function

The 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 two 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's disease.^[1]

Interactions

Wilson disease protein has been shown to interact with ATOX1^[2]^[3] and GLRX.^[4]

References

↑ "Entrez Gene: ATP7B ATPase, Cu++ transporting, beta polypeptide".
↑ Larin D, Mekios C, Das K, Ross B, Yang AS, Gilliam TC (Oct 1999). "Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p". J. Biol. Chem. 274 (40): 28497–504. doi:10.1074/jbc.274.40.28497. PMID 10497213.
↑ Hamza I, Schaefer M, Klomp LW, Gitlin JD (Nov 1999). "Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis". Proc. Natl. Acad. Sci. U.S.A. 96 (23): 13363–8. doi:10.1073/pnas.96.23.13363. PMC 23953. PMID 10557326.
↑ Lim CM, Cater MA, Mercer JF, La Fontaine S (Sep 2006). "Copper-dependent interaction of glutaredoxin with the N termini of the copper-ATPases (ATP7A and ATP7B) defective in Menkes and Wilson diseases". Biochem. Biophys. Res. Commun. 348 (2): 428–36. doi:10.1016/j.bbrc.2006.07.067. PMID 16884690.

External links

GeneReviews/NIH/NCBI/UW entry on Wilson Disease or Hepatolenticular Degeneration
Wilson disease protein at the US National Library of Medicine Medical Subject Headings (MeSH)

PDB gallery

2arf: Solution structure of the Wilson ATPase N-domain in the presence of ATP

2ew9: Solution structure of apoWLN5-6

Hydrolases: acid anhydride hydrolases (EC 3.6)

3.6.1

3.6.2

3.6.3-4: ATPase

3.6.3

Cu++ (3.6.3.4)	Menkes/ATP7A Wilson/ATP7B

Ca+ (3.6.3.8)	SERCA ATP2A1 ATP2A2 ATP2A3 Plasma membrane ATP2B1 ATP2B2 ATP2B3 ATP2B4 SPCA ATP2C1 ATP2C2

Na+/K+ (3.6.3.9)	ATP1A1 ATP1A2 ATP1A3 ATP1A4 ATP1B1 ATP1B2 ATP1B3 ATP1B4

H+/K+ (3.6.3.10)	ATP4A

Other P-type ATPase	ATP8B1 ATP10A ATP11B ATP12A ATP13A2 ATP13A3

3.6.4

3.6.5: GTPase

3.6.5.1: Heterotrimeric G protein	G_αs G_αi GNAI1 GNAI2 GNAI3 G_αq/11 GNAQ GNA11 G_α12/13 GNA12 GNA13 Transducin GNAT1 GNAT2

3.6.5.2: Small GTPase > Ras superfamily	Rho family of GTPases: Cdc42 CDC42 TC10 TCL RhoUV RhoU RhoV Rac Rac1 2 3 RhoG RhoBTB 1 2 RhoH Rho A B C Rnd 1 2 3 RhoDF RhoF RhoD other: Ras HRAS KRAS NRAS Rab RAB23 RAB27 Arf ARF6 SAR1B ARL13B ARL6 Ran Rheb Rap RGK

3.6.5.3: Protein-synthesizing GTPase	Prokaryotic IF-2 EF-Tu EF-G Eukaryotic

3.6.5.5-6: Polymerization motors	Dynamin Tubulin

Biochemistry overview
Enzymes overview
By EC number: 1.1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 10
- 11
- 13
- 14
- 15-18
2.1
- 2
- 3
- 4
- 5
- 6
- 7
  - 2.7.10
  - 11-12
- 8
3.1
- - 3.1.3.48
- 2
- 3
- 4
  - 3.4.21
  - 22
  - 23
  - 24
- 5
- 6
- 7
4.1
- 2
- 3
- 4
- 5
- 6
5.1
- 2
- 3
- 4
- 99
6.1-3
- 4
- 5-6

Membrane transport protein: ion pumps, ATPases / ATP synthase (TC 3A2-3A3)

F-, V-, and A-type ATPase (3.A.2)

H+ (F-type)	H⁺ transporting, mitochondrial: ATP5A1 ATP5B ATP5C1 ATP5C2 ATP5D ATP5E ATP5F1 ATP5G1 ATP5G2 ATP5G3 ATP5H ATP5I ATP5J ATP5J2 ATP5L ATP5L2 ATP5O ATP5S

H+ (V-type)	H⁺ transporting, lysosomal: ATP6AP1 ATP6AP2 ATP6V1A ATP6V1B1 ATP6V1B2 ATP6V1C1 ATP6V1C2 ATP6V1D ATP6V1E1 ATP6V1E2 ATP6V1F ATP6V1G1 ATP6V1G2 ATP6V1G3 ATP6V1H ATP6V0A1 ATP6V0A2 ATP6V0A4 ATP6V0B ATP6V0C ATP6V0D1 ATP6V0D2 ATP6V0E ATP6V0E1 TCIRG1

A-ATPase	found in Archea

P-type ATPase (3.A.3)

3.A.3.1.1: Na⁺/K⁺ transporting: ATP1A1
ATP1A2
ATP1A3
ATP1A4
ATP1B1
ATP1B2
ATP1B3
ATP1B4
ATP1G1

3.A.3.1.2: H+/K+
H⁺/K⁺ exchanging: ATP4A
ATP4B

3.A.3.1.4: H⁺/K⁺ transporting, nongastric: ATP12A

3.A.3.2: Ca+ (SERCA, PMCA, SPCA) / Ca⁺⁺ transporting: ATP2A1
ATP2A2
ATP2A3
ATP2B1
ATP2B2
ATP2B3
ATP2B4
ATP2C1

3.A.3.5: Cu⁺⁺ transporting: ATP7A
ATP7B

3.A.3.8.8: flippase: ATP8A2

Other/ungrouped:

Na+/K+ – H+

Mg⁺⁺ transporting: ATP3
Class I, type 8: ATP8A1
ATP8B1
ATP8B2
ATP8B3
ATP8B4
Class II, type 9: ATP9A
ATP9B
Class V, type 10: ATP10A
ATP10B
ATP10D
Class VI, type 11: ATP11A
ATP11B
ATP11C
type 13: ATP13A1
ATP13A2
ATP13A3
ATP13A4
ATP13A5

see also ATPase disorders

Index of cells

Description	Structure nucleus chromosome genetics Organelles peroxisome cytoskeleton centrosome epithelia cilia mitochondria Membranes proteins cell adhesions Membrane transport ion channels vesicular transport solute carrier ABC transporters ATPase oxidoreduction-driven

Disease	Structural peroxisome cytoskeleton cilia mitochondria nucleus scleroprotein Membrane channelopathy solute carrier ATPase ABC transporters other extracellular ligands cell surface receptors intracellular signalling Vesicular transport Pore-forming toxins

Metabolism: Metal metabolism

Transition metal

Iron metabolism

Absorption in
Duodenum

Iron(II) oxide:	DMT1 (SLC11A2) Ferritin Hephaestin/Ferroportin (SLC11A3/SLC40A1) Transferrin to Transferrin receptor TFRC TFR2

Iron(III) oxide:	Duodenal cytochrome B Integrin Calreticulin/mobilferrin Ferritin

Other

Iron-binding proteins:	Ferritin

Hepcidin/HAMP Hemojuvelin Iron-responsive element-binding protein Aconitase Ceruloplasmin HFE Hemosiderin Lactoferrin

Copper metabolism

Zinc metabolism

Electrolyte

Sodium metabolism	Na+/K+-ATPase

Phosphate metabolism	Phosphoric acids and phosphates

Magnesium metabolism	Magnesium transporter

Calcium metabolism	Calcium-sensing receptor Calcium-binding protein

Index of nutrition

Description	Vitamins metabolism Cofactors Metal metabolism Fats metabolism intermediates lipoproteins Sugars Glycolysis enzymes Glycogenesis and glycogenolysis intermediates Fructose and galactose intermediates

Disease	Vitamins Carbohydrate Lipid storage Metals Other Symptoms and signs eponymous

Treatment	Drugs obesity lipid-modifying Vitamins Mineral supplements

Wilson disease protein

Function

Interactions

See also

References

Further reading

External links