P35670 (ATP7B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Copper-transporting ATPase 2
EC=3.6.3.4

Alternative name(s):
Copper pump 2
Wilson disease-associated protein

Cleaved into the following chain:

1. WND/140 kDa

Gene names

Name:	ATP7B
Synonyms:	PWD, WC1, WND

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1465 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile.
Catalytic activity	ATP + H2O + Cu2+(In) = ADP + phosphate + Cu2+(Out).
Subunit structure	Monomer. Interacts with COMMD1/MURR1. Interacts with DCTN4, in a copper-dependent manner. Interacts with ATOX1. Ref.14 Ref.15 Ref.17
Subcellular location	Golgi apparatus › trans-Golgi network membrane; Multi-pass membrane protein By similarity. Note: Predominantly found in the trans-Golgi network (TGN). Not redistributed to the plasma membrane in response to elevated copper levels. Ref.12 Isoform 2: Cytoplasm Ref.12. WND/140 kDa: Mitochondrion Ref.12.
Tissue specificity	Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues.
Domain	Each HMA domain can bind a copper ion, they are tightly packed and closely interact with each other. Wild-type ATP7B can usually be loaded with an average 5.5 copper atoms per molecule. Ref.16
Post-translational modification	Isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form. Ref.13
Involvement in disease	Wilson disease (WD) [MIM:277900]: An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.10 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.35 Ref.36 Ref.37 Ref.38 Ref.39 Ref.40 Ref.41 Ref.42 Ref.43 Ref.44 Ref.45 Ref.46 Ref.47 Ref.48 Ref.49 Ref.50 Ref.51 Ref.52 Ref.53 Ref.54 Ref.55 Ref.56 Ref.57 Ref.58 Ref.59 Ref.60 Ref.61 Ref.62 Ref.63 Ref.64 Ref.65 Ref.66
Sequence similarities	Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily. [View classification] Contains 6 HMA domains.
Sequence caution	The sequence AAA16173.1 differs from that shown. Reason: Frameshift at position 830. The sequence AAA79211.1 differs from that shown. Reason: Frameshift at position 456. The sequence AAA79212.1 differs from that shown. Reason: Frameshift at position 456.

Ontologies

Keywords
Biological process	Copper transport Ion transport Transport
Cellular component	Cytoplasm Golgi apparatus Membrane Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Repeat Transmembrane Transmembrane helix
Ligand	ATP-binding Copper Magnesium Metal-binding Nucleotide-binding
Molecular function	Hydrolase
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular copper ion homeostasis Traceable author statement Ref.15. Source: UniProtKB cellular zinc ion homeostasis Inferred from electronic annotation. Source: Compara copper ion import Inferred from direct assay PubMed 16472602. Source: UniProtKB intracellular copper ion transport Inferred from electronic annotation. Source: Compara lactation Inferred from electronic annotation. Source: Compara response to copper ion Inferred from direct assay PubMed 15269005PubMed 16472602PubMed 16939419. Source: UniProtKB sequestering of calcium ion Inferred from direct assay PubMed 16472602. Source: UniProtKB
Cellular_component	Golgi membrane Traceable author statement. Source: Reactome integral to plasma membrane Traceable author statement Ref.7. Source: UniProtKB late endosome Inferred from direct assay PubMed 15681833. Source: UniProtKB mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell trans-Golgi network Inferred from electronic annotation. Source: Compara
Molecular_function	ATP binding Inferred from direct assay PubMed 16567646. Source: UniProtKB copper ion binding Inferred from direct assay PubMed 12029094. Source: UniProtKB copper-exporting ATPase activity Non-traceable author statement PubMed 12763797. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P35670-1)

Also known as: A;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P35670-2)

Also known as: B;

The sequence of this isoform differs from the canonical sequence as follows:
     624-785: Missing.
     911-955: Missing.

Isoform 3 (identifier: P35670-3)

The sequence of this isoform differs from the canonical sequence as follows:
     269-379: Missing.

Isoform 4 (identifier: P35670-4)

The sequence of this isoform differs from the canonical sequence as follows:
     938-955: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1465

1465

Copper-transporting ATPase 2

PRO_0000046314

Chain

? – 1465

WND/140 kDa

PRO_0000296199

Regions

Topological domain

1 – 653

653

Cytoplasmic Potential

Transmembrane

654 – 675

22

Helical; Potential

Topological domain

676 – 697

22

Extracellular Potential

Transmembrane

698 – 717

20

Helical; Potential

Topological domain

718 – 724

7

Cytoplasmic Potential

Transmembrane

725 – 745

21

Helical; Potential

Topological domain

746 – 764

19

Extracellular Potential

Transmembrane

765 – 785

21

Helical; Potential

Topological domain

786 – 919

134

Cytoplasmic Potential

Transmembrane

920 – 942

23

Helical; Potential

Topological domain

943 – 972

30

Extracellular Potential

Transmembrane

973 – 994

22

Helical; Potential

Topological domain

995 – 1322

328

Cytoplasmic Potential

Transmembrane

1323 – 1340

18

Helical; Potential

Topological domain

1341 – 1351

11

Extracellular Potential

Transmembrane

1352 – 1371

20

Helical; Potential

Topological domain

1372 – 1465

94

Cytoplasmic Potential

Domain

59 – 125

67

HMA 1

Domain

144 – 210

67

HMA 2

Domain

258 – 327

70

HMA 3

Domain

360 – 426

67

HMA 4

Domain

489 – 555

67

HMA 5

Domain

565 – 631

67

HMA 6

Compositional bias

340 – 345

6

Poly-Ser

Sites

Active site

1027

1

4-aspartylphosphate intermediate By similarity

Metal binding

69

1

Copper 1

Metal binding

72

1

Copper 1

Metal binding

154

1

Copper 2

Metal binding

157

1

Copper 2

Metal binding

268

1

Copper 3

Metal binding

271

1

Copper 3

Metal binding

370

1

Copper 4

Metal binding

373

1

Copper 4

Metal binding

499

1

Copper 5

Metal binding

502

1

Copper 5

Metal binding

575

1

Copper 6

Metal binding

578

1

Copper 6

Metal binding

1267

1

Magnesium By similarity

Metal binding

1271

1

Magnesium By similarity

Natural variations

Alternative sequence

269 – 379

111

Missing in isoform 3.

VSP_016559

Alternative sequence

624 – 785

162

Missing in isoform 2.

VSP_000426

Alternative sequence

911 – 955

45

Missing in isoform 2.

VSP_000427

Alternative sequence

938 – 955

18

Missing in isoform 4.

VSP_016560

Natural variant

14

1

A → D. Ref.51

VAR_023010

Natural variant

41

1

N → S in WD. Ref.53

VAR_023011

Natural variant

85

1

G → V in WD. Ref.30 Ref.51

VAR_000703

Natural variant

96

1

G → D. Ref.1

VAR_000704

Natural variant

290

1

V → L. Ref.42

VAR_044453

Natural variant

390

1

I → V.

VAR_000705

Natural variant

406

1

S → A. Ref.2 Ref.41 Ref.42 Ref.45 Ref.51 Ref.58 Ref.64
Corresponds to variant rs1801243 [ dbSNP | Ensembl ].

VAR_000706

Natural variant

446

1

V → L.

VAR_000707

Natural variant

456

1

V → L. Ref.2 Ref.26 Ref.41 Ref.42 Ref.45 Ref.51 Ref.58 Ref.62 Ref.64
Corresponds to variant rs1801244 [ dbSNP | Ensembl ].

VAR_000708

Natural variant

466

1

L → V.

VAR_000709

Natural variant

486

1

A → S in WD. Ref.39

VAR_044454

Natural variant

492

1

L → S in WD. Ref.30

VAR_000710

Natural variant

532

1

Y → H in WD. Ref.61 Ref.65

VAR_044455

Natural variant

536

1

V → A in WD. Ref.64

VAR_058925

Natural variant

549

1

L → P in WD. Ref.66

VAR_067335

Natural variant

565

1

N → S. Ref.27

VAR_000711

Natural variant

591

1

G → D in WD. Ref.61

VAR_044456

Natural variant

604

1

A → P in WD. Ref.61

VAR_044457

Natural variant

608 – 609

2

FD → Y in WD.

VAR_010009

Natural variant

616

1

R → Q in WD. Ref.59 Ref.60

VAR_009004

Natural variant

616

1

R → W in WD. Ref.45

VAR_023012

Natural variant

626

1

G → A in WD. Ref.59 Ref.65

VAR_000712

Natural variant

639

1

H → Y in WD. Ref.60

VAR_044458

Natural variant

641

1

L → S in WD. Ref.61 Ref.62

VAR_023013

Natural variant

642

1

D → H in WD. Ref.30 Ref.65 Ref.66

VAR_000713

Natural variant

645

1

M → R in WD. Ref.27 Ref.30 Ref.58

VAR_000714

Natural variant

653

1

S → Y in WD. Ref.60

VAR_044459

Natural variant

657

1

S → R in WD. Ref.64

VAR_058926

Natural variant

665

1

M → I in WD. Ref.30

VAR_000715

Natural variant

670 – 671

2

Missing in WD.

VAR_009005

Natural variant

690

1

P → L in WD. Ref.58

VAR_023014

Natural variant

691

1

G → R in WD. Ref.30 Ref.63

VAR_000716

Natural variant

693

1

S → C in WD. Ref.23

VAR_023015

Natural variant

703

1

C → Y in WD. Ref.61 Ref.66

VAR_044460

Natural variant

708

1

L → P in WD. Ref.40

VAR_000717

Natural variant

710

1

G → A in WD. Ref.26 Ref.45

VAR_010010

Natural variant

710

1

G → R in WD.

VAR_000718

Natural variant

710

1

G → S in WD. Ref.37 Ref.45 Ref.62

VAR_000719

Natural variant

710

1

G → V in WD. Ref.61

VAR_044461

Natural variant

711

1

G → E in WD.

VAR_000720

Natural variant

711

1

G → R in WD. Ref.37

VAR_009006

Natural variant

711

1

G → W in WD.

VAR_009007

Natural variant

713

1

Y → C in WD.

VAR_000721

Natural variant

721

1

S → P in WD. Ref.49

VAR_023016

Natural variant

723

1

R → G. Ref.27

VAR_000722

Natural variant

737

1

T → R in WD. Ref.62

VAR_023017

Natural variant

741

1

Y → C in WD. Ref.26

VAR_010011

Natural variant

744

1

S → P in WD. Ref.66

VAR_009008

Natural variant

747

1

I → F in WD. Ref.30

VAR_000723

Natural variant

756

1

A → G in WD. Ref.61

VAR_044462

Natural variant

760

1

P → L in WD. Ref.44 Ref.45

VAR_023018

Natural variant

765

1

D → G in WD. Ref.51

VAR_023019

Natural variant

765

1

D → N in WD. Ref.27 Ref.45 Ref.66
Corresponds to variant rs28942075 [ dbSNP | Ensembl ].

VAR_000724

Natural variant

766

1

T → M in WD. Ref.61

VAR_044463

Natural variant

766

1

T → R in WD. Ref.54

VAR_044464

Natural variant

768

1

P → H in WD. Ref.48

VAR_023020

Natural variant

769

1

M → I in WD. Ref.41

VAR_023021

Natural variant

769

1

M → R in WD.

VAR_009009

Natural variant

769

1

M → V in WD. Ref.45

VAR_000725

Natural variant

776

1

L → P in WD. Ref.60

VAR_044465

Natural variant

776

1

L → V Possible polymorphism.

VAR_000726

Natural variant

778

1

R → G in WD. Ref.39 Ref.59 Ref.60 Ref.62 Ref.66

VAR_000727

Natural variant

778

1

R → L in WD; most common mutation. Ref.21 Ref.28 Ref.29 Ref.38 Ref.41 Ref.42 Ref.48 Ref.50 Ref.51 Ref.55
Corresponds to variant rs28942074 [ dbSNP | Ensembl ].

VAR_000728

Natural variant

778

1

R → Q in WD. Ref.21

VAR_000729

Natural variant

778

1

R → W in WD. Ref.30 Ref.41 Ref.46 Ref.59

VAR_000730

Natural variant

795

1

L → F in WD.

VAR_000731

Natural variant

795

1

L → R in WD.

VAR_009010

Natural variant

832

1

K → R. Ref.8 Ref.9 Ref.27 Ref.28 Ref.42 Ref.45 Ref.51 Ref.58 Ref.62 Ref.64
Corresponds to variant rs1061472 [ dbSNP | Ensembl ].

VAR_000732

Natural variant

840

1

P → L in WD. Ref.30 Ref.37

VAR_000733

Natural variant

857

1

I → T in WD.

VAR_000734

Natural variant

861

1

A → T in WD. Ref.61

VAR_044466

Natural variant

864

1

V → I. Ref.28

VAR_000735

Natural variant

869

1

G → R in WD. Ref.58

VAR_000736

Natural variant

869

1

G → V in WD.

VAR_009011

Natural variant

874

1

A → V in WD. Ref.28 Ref.29 Ref.37 Ref.38 Ref.41 Ref.42 Ref.48 Ref.50 Ref.59

VAR_000737

Natural variant

875

1

G → R. Ref.1 Ref.7

VAR_023022

Natural variant

875

1

G → V in WD; requires 2 nucleotide substitutions.

VAR_044467

Natural variant

890

1

V → M in WD. Ref.39 Ref.51

VAR_023023

Natural variant

891

1

G → V in WD.

VAR_010012

Natural variant

898

1

Q → R in WD. Ref.46

VAR_023024

Natural variant

918

1

D → E in WD. Ref.62

VAR_023025

Natural variant

918

1

D → N in WD. Ref.30

VAR_000738

Natural variant

919

1

R → G in WD. Ref.29 Ref.38 Ref.41 Ref.50 Ref.51

VAR_000739

Natural variant

919

1

R → W in WD. Ref.30

VAR_000740

Natural variant

921

1

S → N in WD. Ref.30

VAR_000741

Natural variant

933

1

T → P in WD. Ref.30

VAR_000742

Natural variant

935

1

T → M in WD. Ref.51

VAR_000743

Natural variant

943

1

G → C in WD. Ref.61

VAR_044468

Natural variant

943

1

G → D in WD. Ref.55

VAR_000744

Natural variant

943

1

G → S in WD. Ref.58
Corresponds to variant rs28942076 [ dbSNP | Ensembl ].

VAR_000745

Natural variant

949

1

V → G in WD. Ref.26 Ref.53

VAR_023026

Natural variant

952

1

R → K. Ref.1 Ref.2 Ref.5 Ref.64
Corresponds to variant rs732774 [ dbSNP | Ensembl ].

VAR_000746

Natural variant

967

1

I → F in WD. Ref.19
Corresponds to variant rs60003608 [ dbSNP | Ensembl ].

VAR_010013

Natural variant

969

1

R → Q in WD. Ref.27 Ref.37 Ref.39 Ref.45 Ref.59 Ref.62

VAR_000747

Natural variant

971

1

A → V in WD. Ref.64

VAR_058927

Natural variant

974

1

T → M in WD. Ref.64

VAR_058928

Natural variant

975

1

S → Y in WD. Ref.51

VAR_023027

Natural variant

977

1

T → M in WD. Ref.19 Ref.58 Ref.60 Ref.62 Ref.66

VAR_000748

Natural variant

985

1

C → Y in WD. Ref.33

VAR_009012

Natural variant

988

1

G → R in WD. Ref.60

VAR_044469

Natural variant

991

1

T → M in WD. Ref.61
Corresponds to variant rs41292782 [ dbSNP | Ensembl ].

VAR_044470

Natural variant

992

1

P → H in WD. Ref.57

VAR_044471

Natural variant

992

1

P → L in WD; common mutation. Ref.30 Ref.45 Ref.51 Ref.60

VAR_000749

Natural variant

995

1

V → A.

VAR_000750

Natural variant

996

1

M → T in WD. Ref.61

VAR_044472

Natural variant

998

1

G → D in WD. Ref.66

VAR_067336

Natural variant

1000

1

G → R in WD. Ref.61

VAR_044473

Natural variant

1003

1

A → T in WD. Ref.30 Ref.41 Ref.57 Ref.59

VAR_000751

Natural variant

1003

1

A → V in WD. Ref.37

VAR_009013

Natural variant

1004

1

Q → P in WD. Ref.64

VAR_058929

Natural variant

1018

1

A → V in WD. Ref.30 Ref.62

VAR_000752

Natural variant

1029

1

T → I in WD. Ref.38

VAR_044474

Natural variant

1031

1

T → I in WD. Ref.26

VAR_010014

Natural variant

1033

1

T → A in WD.

VAR_009014

Natural variant

1033

1

T → S in WD. Ref.62

VAR_023028

Natural variant

1035

1

G → V in WD. Ref.38

VAR_000753

Natural variant

1038

1

R → K in WD. Ref.25
Corresponds to variant rs59959366 [ dbSNP | Ensembl ].

VAR_010015

Natural variant

1041

1

R → P in WD. Ref.32 Ref.37

VAR_009015

Natural variant

1041

1

R → W in WD; uncertain pathological significance. Ref.30 Ref.37 Ref.62 Ref.65

VAR_000754

Natural variant

1043

1

L → P in WD.

VAR_000755

Natural variant

1052

1

P → L in WD.

VAR_009016

Natural variant

1061

1

G → E in WD. Ref.37 Ref.39 Ref.58

VAR_009017

Natural variant

1063

1

A → V in WD. Ref.37 Ref.62 Ref.66

VAR_009018

Natural variant

1064

1

E → A in WD. Ref.27

VAR_000756

Natural variant

1064

1

E → K in WD; marked impairment in copper transport. Ref.62 Ref.65

VAR_000757

Natural variant

1065

1

A → P in WD.

VAR_044475

Natural variant

1068

1

E → G in WD; common mutation. Ref.37

VAR_009019

Natural variant

1069

1

H → Q in WD; common mutation. Ref.7 Ref.26 Ref.27 Ref.36 Ref.37 Ref.39 Ref.45 Ref.46 Ref.58 Ref.59 Ref.60 Ref.62 Ref.66

VAR_000758

Natural variant

1083

1

L → F in WD; marked impairment in copper transport. Ref.28 Ref.41 Ref.47 Ref.48 Ref.65

VAR_000759

Natural variant

1089

1

G → E in WD. Ref.37

VAR_000760

Natural variant

1089

1

G → V in WD. Ref.30

VAR_000761

Natural variant

1094

1

F → L in WD. Ref.53

VAR_023029

Natural variant

1095

1

Q → P in WD. Ref.60

VAR_009020

Natural variant

1098

1

P → R in WD. Ref.51

VAR_023030

Natural variant

1099

1

G → S in WD. Ref.39 Ref.58

VAR_023031

Natural variant

1101

1

G → R in WD.

VAR_000762

Natural variant

1102

1

I → T in WD. Ref.46 Ref.57 Ref.62

VAR_000763

Natural variant

1104

1

C → F in WD. Ref.37

VAR_009021

Natural variant

1104

1

C → Y in WD. Ref.57

VAR_044476

Natural variant

1106

1

V → D in WD; marked impairment in copper transport. Ref.19 Ref.65

VAR_010017

Natural variant

1106

1

V → I in WD. Ref.55

VAR_044477

Natural variant

1109

1

V → M. Ref.28

VAR_000764

Natural variant

1111

1

G → D in WD. Ref.62

VAR_023032

Natural variant

1140

1

V → A. Ref.2 Ref.9 Ref.26 Ref.27 Ref.28 Ref.41 Ref.42 Ref.51 Ref.55 Ref.58 Ref.62 Ref.64 Ref.65
Corresponds to variant rs1801249 [ dbSNP | Ensembl ].

VAR_000765

Natural variant

1142

1

Q → H in WD.

VAR_000766

Natural variant

1143

1

T → N. Ref.51

VAR_023033

Natural variant

1146

1

V → M in WD. Ref.30

VAR_000767

Natural variant

1148

1

I → T in WD. Ref.33 Ref.39 Ref.51 Ref.56 Ref.62
Corresponds to variant rs60431989 [ dbSNP | Ensembl ].

VAR_000768

Natural variant

1149

1

G → A in WD. Ref.64

VAR_058930

Natural variant

1151

1

R → H in WD. Ref.37

VAR_009022

Natural variant

1153

1

W → C in WD.

VAR_000769

Natural variant

1153

1

W → R in WD. Ref.19

VAR_010018

Natural variant

1164

1

D → N in WD. Ref.64

VAR_058931

Natural variant

1168

1

A → S in WD. Ref.48

VAR_023034

Natural variant

1169

1

M → T in WD. Ref.37

VAR_009023

Natural variant

1169

1

M → V in WD; moderate impairment in copper transport. Ref.65

VAR_000770

Natural variant

1173

1

E → G in WD. Ref.64

VAR_058932

Natural variant

1173

1

E → K in WD. Ref.37 Ref.51

VAR_009024

Natural variant

1176

1

G → E in WD. Ref.61

VAR_044478

Natural variant

1176

1

G → R in WD. Ref.26 Ref.56 Ref.62

VAR_010019

Natural variant

1183

1

A → G in WD. Ref.30 Ref.49

VAR_000771

Natural variant

1183

1

A → T in WD; possibly not disease-causing. Ref.30 Ref.65

VAR_000772

Natural variant

1186

1

G → C in WD.

VAR_000773

Natural variant

1186

1

G → S in WD; possibly not disease-causing. Ref.29 Ref.38 Ref.41 Ref.62 Ref.65

VAR_000774

Natural variant

1207

1

H → R. Ref.37 Ref.66
Corresponds to variant rs7334118 [ dbSNP | Ensembl ].

VAR_009025

Natural variant

1213

1

G → V in WD. Ref.27

VAR_000775

Natural variant

1216 – 1217

2

Missing in WD.

VAR_000777

Natural variant

1216

1

V → M in WD. Ref.30 Ref.55 Ref.58

VAR_000776

Natural variant

1217 – 1218

2

Missing in WD.

VAR_044479

Natural variant

1220

1

T → M in WD. Ref.60

VAR_000778

Natural variant

1221

1

G → E in WD. Ref.61

VAR_044480

Natural variant

1222

1

D → N in WD. Ref.38

VAR_044481

Natural variant

1222

1

D → V in WD. Ref.37

VAR_010020

Natural variant

1222

1

D → Y in WD.

VAR_000779

Natural variant

1228

1

R → T in WD. Ref.64

VAR_058933

Natural variant

1230

1

I → V in WD. Ref.64

VAR_058934

Natural variant

1232

1

T → P in WD. Ref.53 Ref.58

VAR_023035

Natural variant

1239

1

V → G in WD.

VAR_009026

Natural variant

1245

1

P → S. Ref.51

VAR_023036

Natural variant

1248

1

K → N in WD. Ref.51

VAR_023037

Natural variant

1252

1

V → I in WD.

VAR_044482

Natural variant

1255

1

L → I in WD. Ref.48

VAR_023038

Natural variant

1256

1

Q → R in WD. Ref.57

VAR_044483

Natural variant

1262

1

V → F in WD. Ref.37

VAR_009027

Natural variant

1266

1

G → R in WD; common mutation. Ref.46

VAR_009028

Natural variant

1266

1

G → V in WD.

VAR_000781

Natural variant

1267

1

D → A in WD. Ref.29 Ref.41 Ref.48

VAR_000782

Natural variant

1267

1

D → V in WD. Ref.64

VAR_058935

Natural variant

1270

1

N → S in WD. Ref.7 Ref.29 Ref.41 Ref.45 Ref.48 Ref.59

VAR_000783

Natural variant

1271

1

D → N in WD. Ref.62

VAR_023039

Natural variant

1273

1

P → L in WD. Ref.60 Ref.62 Ref.66

VAR_000784

Natural variant

1278

1

A → V in WD; uncertain pathogenicity. Ref.24

VAR_000785

Natural variant

1279

1

D → G in WD. Ref.43

VAR_023040

Natural variant

1279

1

D → Y in WD. Ref.59

VAR_044484

Natural variant

1285 – 1292

8

Missing in WD.

VAR_000786

Natural variant

1287

1

G → S in WD. Ref.61

VAR_044485

Natural variant

1296

1

D → N in WD. Ref.47

VAR_044486

Natural variant

1297

1

V → I. Ref.37

VAR_009029

Natural variant

1297

1

Missing in WD. Ref.42

VAR_044487

Natural variant

1305

1

L → P in WD. Ref.44 Ref.62

VAR_023041

Natural variant

1310

1

S → R in WD.

VAR_000787

Natural variant

1322

1

R → P in WD.

VAR_000788

Natural variant

1327

1

L → V in WD. Ref.37

VAR_009030

Natural variant

1328

1

A → T in WD. Ref.64

VAR_058936

Natural variant

1331

1

Y → S in WD. Ref.61

VAR_044488

Natural variant

1332

1

N → D in WD. Ref.66

VAR_067337

Natural variant

1336

1

I → T in WD. Ref.41

VAR_023042

Natural variant

1341

1

G → D in WD. Ref.30 Ref.59 Ref.60 Ref.62 Ref.66

VAR_000789

Natural variant

1341

1

G → R in WD. Ref.66

VAR_067338

Natural variant

1341

1

G → S in WD. Ref.52

VAR_044489

Natural variant

1341

1

G → V in WD. Ref.61

VAR_044490

Natural variant

1352

1

P → S in WD. Ref.59

VAR_044491

Natural variant

1353

1

W → R in WD.

VAR_000790

Natural variant

1355

1

G → C in WD. Ref.62

VAR_023043

Natural variant

1355

1

G → S in WD. Ref.19

VAR_010021

Natural variant

1358

1

A → S in WD. Ref.30

VAR_000791

Natural variant

1359

1

M → I in WD. Ref.64

VAR_058937

Natural variant

1363

1

S → F in WD. Ref.37

VAR_009031

Natural variant

1368

1

L → P in WD. Ref.59

VAR_044492

Natural variant

1373

1

L → P in WD. Ref.41

VAR_023044

Natural variant

1373

1

L → R in WD. Ref.53

VAR_023045

Natural variant

1375

1

C → S in WD. Ref.61

VAR_044493

Natural variant

1379

1

P → S in WD. Ref.61

VAR_044494

Natural variant

1407

1

D → E. Ref.42

VAR_044495

Natural variant

1434

1

T → M in WD. Ref.37
Corresponds to variant rs60986317 [ dbSNP | Ensembl ].

VAR_009032

Experimental info

Sequence conflict

488

1

Q → G in AAA16173. Ref.8

Sequence conflict

635

1

N → T in AAA16173. Ref.8

Sequence conflict

767

1

P → L in AAA16173. Ref.8

Sequence conflict

837

1

G → A in AAA16173. Ref.8

Secondary structure

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1465

Helix Strand Turn

Details...

Beta strand

258 – 265

8

Helix

266 – 268

3

Helix

271 – 278

8

Beta strand

285 – 291

7

Turn

292 – 295

4

Beta strand

296 – 301

6

Turn

303 – 305

3

Helix

308 – 315

8

Beta strand

318 – 321

4

Beta strand

323 – 326

4

Beta strand

359 – 366

8

Helix

372 – 380

9

Helix

381 – 383

3

Beta strand

384 – 393

10

Turn

394 – 397

4

Beta strand

398 – 403

6

Turn

405 – 407

3

Helix

410 – 420

11

Beta strand

424 – 426

3

Beta strand

488 – 495

8

Beta strand

499 – 501

3

Helix

502 – 511

10

Beta strand

519 – 522

4

Turn

523 – 526

4

Beta strand

527 – 532

6

Turn

534 – 536

3

Helix

539 – 549

11

Beta strand

552 – 555

4

Beta strand

562 – 572

11

Helix

576 – 588

13

Beta strand

589 – 591

3

Beta strand

594 – 598

5

Turn

599 – 602

4

Beta strand

603 – 607

5

Turn

610 – 612

3

Helix

615 – 625

11

Beta strand

628 – 630

3

Beta strand

1039 – 1044

6

Turn

1048 – 1050

3

Helix

1053 – 1064

12

Helix

1072 – 1083

12

Beta strand

1091 – 1097

7

Turn

1098 – 1100

3

Beta strand

1101 – 1107

7

Helix

1109 – 1113

5

Beta strand

1127 – 1130

4

Beta strand

1143 – 1149

7

Helix

1151 – 1158

8

Helix

1163 – 1173

11

Turn

1174 – 1176

3

Beta strand

1177 – 1184

8

Beta strand

1187 – 1194

8

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (A) [UniParc]. Last modified June 16, 2009. Version 4. Checksum: 419145448F9E959A	FASTA	1,465	157,263
	10 20 30 40 50 60 MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS 70 80 90 100 110 120 TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG 130 140 150 160 170 180 FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN 190 200 210 220 230 240 QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN 250 260 270 280 290 300 QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK 310 320 330 340 350 360 YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST 370 380 390 400 410 420 TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM 430 440 450 460 470 480 GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ 490 500 510 520 530 540 STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL 550 560 570 580 590 600 EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA 610 620 630 640 650 660 TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF 670 680 690 700 710 720 GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK 730 740 750 760 770 780 SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL 790 800 810 820 830 840 EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP 850 860 870 880 890 900 VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV 910 920 930 940 950 960 KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH 970 980 990 1000 1010 1020 ISQTEVIIRF AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK 1030 1040 1050 1060 1070 1080 IKTVMFDKTG TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK 1090 1100 1110 1120 1130 1140 EELGTETLGY CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV 1150 1160 1170 1180 1190 1200 PQTFSVLIGN REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ 1210 1220 1230 1240 1250 1260 EAALAVHTLQ SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK 1270 1280 1290 1300 1310 1320 KVAMVGDGVN DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR 1330 1340 1350 1360 1370 1380 IRINLVLALI YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD 1390 1400 1410 1420 1430 1440 LERYEAQAHG HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR 1450 1460 HSAAADDDGD KWSLLLNGRD EEQYI
	Isoform 2 (B) [UniParc]. Checksum: 43346B705BDAFDE7	FASTA	1,258	133,617
	10 20 30 40 50 60 MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS 70 80 90 100 110 120 TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG 130 140 150 160 170 180 FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN 190 200 210 220 230 240 QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN 250 260 270 280 290 300 QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK 310 320 330 340 350 360 YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST 370 380 390 400 410 420 TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM 430 440 450 460 470 480 GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ 490 500 510 520 530 540 STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL 550 560 570 580 590 600 EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA 610 620 630 640 650 660 TSKALVKFDP EIIGPRDIIK IIESKTSEAL AKLMSLQATE ATVVTLGEDN LIIREEQVPM 670 680 690 700 710 720 ELVQRGDIVK VVPGGKFPVD GKVLEGNTMA DESLITGEAM PVTKKPGSTV IAGSINAHGS 730 740 750 760 770 780 VLIKATHVGN DTTLAQIVKL VEEAQMSKNP NKHISQTEVI IRFAFQTSIT VLCIACPCSL 790 800 810 820 830 840 GLATPTAVMV GTGVAAQNGI LIKGGKPLEM AHKIKTVMFD KTGTITHGVP RVMRVLLLGD 850 860 870 880 890 900 VATLPLRKVL AVVGTAEASS EHPLGVAVTK YCKEELGTET LGYCTDFQAV PGCGIGCKVS 910 920 930 940 950 960 NVEGILAHSE RPLSAPASHL NEAGSLPAEK DAVPQTFSVL IGNREWLRRN GLTISSDVSD 970 980 990 1000 1010 1020 AMTDHEMKGQ TAILVAIDGV LCGMIAIADA VKQEAALAVH TLQSMGVDVV LITGDNRKTA 1030 1040 1050 1060 1070 1080 RAIATQVGIN KVFAEVLPSH KVAKVQELQN KGKKVAMVGD GVNDSPALAQ ADMGVAIGTG 1090 1100 1110 1120 1130 1140 TDVAIEAADV VLIRNDLLDV VASIHLSKRT VRRIRINLVL ALIYNLVGIP IAAGVFMPIG 1150 1160 1170 1180 1190 1200 IVLQPWMGSA AMAASSVSVV LSSLQLKCYK KPDLERYEAQ AHGHMKPLTA SQVSVHIGMD 1210 1220 1230 1240 1250 DRWRDSPRAT PWDQVSYVSQ VSLSSLTSDK PSRHSAAADD DGDKWSLLLN GRDEEQYI
	Isoform 3 [UniParc]. Checksum: E0581E07091B1C9C	FASTA	1,354	145,818
	10 20 30 40 50 60 MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS 70 80 90 100 110 120 TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG 130 140 150 160 170 180 FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN 190 200 210 220 230 240 QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN 250 260 270 280 290 300 QNFNNSETLG HQGSHVVTLQ LRIDGMHCMI SQLEGVQQIS VSLAEGTATV LYNPSVISPE 310 320 330 340 350 360 ELRAAIEDMG FEASVVSESC STNPLGNHSA GNSMVQTTDG TPTSVQEVAP HTGRLPANHA 370 380 390 400 410 420 PDILAKSPQS TRAVAPQKCF LQIKGMTCAS CVSNIERNLQ KEAGVLSVLV ALMAGKAEIK 430 440 450 460 470 480 YDPEVIQPLE IAQFIQDLGF EAAVMEDYAG SDGNIELTIT GMTCASCVHN IESKLTRTNG 490 500 510 520 530 540 ITYASVALAT SKALVKFDPE IIGPRDIIKI IEEIGFHASL AQRNPNAHHL DHKMEIKQWK 550 560 570 580 590 600 KSFLCSLVFG IPVMALMIYM LIPSNEPHQS MVLDHNIIPG LSILNLIFFI LCTFVQLLGG 610 620 630 640 650 660 WYFYVQAYKS LRHRSANMDV LIVLATSIAY VYSLVILVVA VAEKAERSPV TFFDTPPMLF 670 680 690 700 710 720 VFIALGRWLE HLAKSKTSEA LAKLMSLQAT EATVVTLGED NLIIREEQVP MELVQRGDIV 730 740 750 760 770 780 KVVPGGKFPV DGKVLEGNTM ADESLITGEA MPVTKKPGST VIAGSINAHG SVLIKATHVG 790 800 810 820 830 840 NDTTLAQIVK LVEEAQMSKA PIQQLADRFS GYFVPFIIIM STLTLVVWIV IGFIDFGVVQ 850 860 870 880 890 900 RYFPNPNKHI SQTEVIIRFA FQTSITVLCI ACPCSLGLAT PTAVMVGTGV AAQNGILIKG 910 920 930 940 950 960 GKPLEMAHKI KTVMFDKTGT ITHGVPRVMR VLLLGDVATL PLRKVLAVVG TAEASSEHPL 970 980 990 1000 1010 1020 GVAVTKYCKE ELGTETLGYC TDFQAVPGCG IGCKVSNVEG ILAHSERPLS APASHLNEAG 1030 1040 1050 1060 1070 1080 SLPAEKDAVP QTFSVLIGNR EWLRRNGLTI SSDVSDAMTD HEMKGQTAIL VAIDGVLCGM 1090 1100 1110 1120 1130 1140 IAIADAVKQE AALAVHTLQS MGVDVVLITG DNRKTARAIA TQVGINKVFA EVLPSHKVAK 1150 1160 1170 1180 1190 1200 VQELQNKGKK VAMVGDGVND SPALAQADMG VAIGTGTDVA IEAADVVLIR NDLLDVVASI 1210 1220 1230 1240 1250 1260 HLSKRTVRRI RINLVLALIY NLVGIPIAAG VFMPIGIVLQ PWMGSAAMAA SSVSVVLSSL 1270 1280 1290 1300 1310 1320 QLKCYKKPDL ERYEAQAHGH MKPLTASQVS VHIGMDDRWR DSPRATPWDQ VSYVSQVSLS 1330 1340 1350 SLTSDKPSRH SAAADDDGDK WSLLLNGRDE EQYI
	Isoform 4 [UniParc]. Checksum: C6A6A7C4BB2AC61D	FASTA	1,447	155,125
	10 20 30 40 50 60 MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS 70 80 90 100 110 120 TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG 130 140 150 160 170 180 FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN 190 200 210 220 230 240 QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN 250 260 270 280 290 300 QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK 310 320 330 340 350 360 YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST 370 380 390 400 410 420 TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM 430 440 450 460 470 480 GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ 490 500 510 520 530 540 STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL 550 560 570 580 590 600 EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA 610 620 630 640 650 660 TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF 670 680 690 700 710 720 GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK 730 740 750 760 770 780 SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL 790 800 810 820 830 840 EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP 850 860 870 880 890 900 VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV 910 920 930 940 950 960 KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVNPN KHISQTEVII RFAFQTSITV 970 980 990 1000 1010 1020 LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKIKTVMFDK TGTITHGVPR 1030 1040 1050 1060 1070 1080 VMRVLLLGDV ATLPLRKVLA VVGTAEASSE HPLGVAVTKY CKEELGTETL GYCTDFQAVP 1090 1100 1110 1120 1130 1140 GCGIGCKVSN VEGILAHSER PLSAPASHLN EAGSLPAEKD AVPQTFSVLI GNREWLRRNG 1150 1160 1170 1180 1190 1200 LTISSDVSDA MTDHEMKGQT AILVAIDGVL CGMIAIADAV KQEAALAVHT LQSMGVDVVL 1210 1220 1230 1240 1250 1260 ITGDNRKTAR AIATQVGINK VFAEVLPSHK VAKVQELQNK GKKVAMVGDG VNDSPALAQA 1270 1280 1290 1300 1310 1320 DMGVAIGTGT DVAIEAADVV LIRNDLLDVV ASIHLSKRTV RRIRINLVLA LIYNLVGIPI 1330 1340 1350 1360 1370 1380 AAGVFMPIGI VLQPWMGSAA MAASSVSVVL SSLQLKCYKK PDLERYEAQA HGHMKPLTAS 1390 1400 1410 1420 1430 1440 QVSVHIGMDD RWRDSPRATP WDQVSYVSQV SLSSLTSDKP SRHSAAADDD GDKWSLLLNG RDEEQYI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions." Petrukhin K., Lutsenko S., Chernov I., Ross B.M., Kaplan J.H., Gilliam T.C. Hum. Mol. Genet. 3:1647-1656(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ASP-96; ARG-875 AND LYS-952.
[2]	"Molecular cloning of mutant ATP7B." Carlini E.J., Booth-Genthe C.L. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), VARIANTS ALA-406; LEU-456; LYS-952 AND ALA-1140.
[3]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"Cloning and characterization of the promoter region of the Wilson disease gene." Oh W.J., Kim E.K., Park K.D., Hahn S.H., Yoo O.J. Biochem. Biophys. Res. Commun. 259:206-211(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-17.
[5]	"The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene." Bull P.C., Thomas G.R., Rommens J.M., Forbes J.R., Cox D.W. Nat. Genet. 5:327-337(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 33-1465 (ISOFORM 1), VARIANT LYS-952.
[6]	Cox D.W. Submitted (APR-1997) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[7]	"The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene." Tanzi R.E., Petrukhin K., Chernov I., Pellequer J.L., Wasco W., Ross B., Romano D.M., Parano E., Pavone L., Brzustowicz L.M., Devoto M., Peppercorn J., Bush A.I., Sternlieb I., Pirastu M., Gusella J.F., Evgrafov O., Penchaszadeh G.K. , Honig B., Edelman I.S., Soares M.B., Scheinberg I.H., Gilliam T.C. Nat. Genet. 5:344-350(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 149-1465 (ISOFORM 2), VARIANTS WD GLN-1069 AND SER-1270, VARIANT ARG-875.
[8]	"Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease." Yamaguchi Y., Heiny M.E., Gitlin J.D. Biochem. Biophys. Res. Commun. 197:271-277(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 488-837 (ISOFORM 4), VARIANT ARG-832. Tissue: Liver.
[9]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 786-1465, VARIANTS ARG-832 AND ALA-1140. Tissue: Brain.
[10]	"The Wilson disease gene: spectrum of mutations and their consequences." Thomas G.R., Forbes J.R., Roberts E.A., Walshe J.M., Cox D.W. Nat. Genet. 9:210-216(1995) [PubMed] [Europe PMC] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS WD, VARIANTS.
[11]	Erratum Thomas G.R., Forbes J.R., Roberts E.A., Walshe J.M., Cox D.W. Nat. Genet. 9:451-451(1995)
[12]	"Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments." Yang X.-L., Miura N., Kawarada Y., Terada K., Petrukhin K., Gilliam T.C., Sugiyama T. Biochem. J. 326:897-902(1997) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING, SUBCELLULAR LOCATION.
[13]	"Localization of the Wilson's disease protein product to mitochondria." Lutsenko S., Cooper M.J. Proc. Natl. Acad. Sci. U.S.A. 95:6004-6009(1998) [PubMed] [Europe PMC] [Abstract] Cited for: POSSIBLE PROTEOLYTIC CLEAVAGE.
[14]	"The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein." Tao T.Y., Liu F., Klomp L., Wijmenga C., Gitlin J.D. J. Biol. Chem. 278:41593-41596(2003) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH COMMD1.
[15]	"Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A." Lim C.M., Cater M.A., Mercer J.F., La Fontaine S. J. Biol. Chem. 281:14006-14014(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH DCTN4.
[16]	"Interactions between copper-binding sites determine the redox status and conformation of the regulatory N-terminal domain of ATP7B." LeShane E.S., Shinde U., Walker J.M., Barry A.N., Blackburn N.J., Ralle M., Lutsenko S. J. Biol. Chem. 285:6327-6336(2010) [PubMed] [Europe PMC] [Abstract] Cited for: COPPER-BINDING SITES, HMA DOMAINS.
[17]	"Metal binding domains 3 and 4 of the Wilson disease protein: solution structure and interaction with the copper(I) chaperone HAH1." Banci L., Bertini I., Cantini F., Rosenzweig A.C., Yatsunyk L.A. Biochemistry 47:7423-7429(2008) [PubMed] [Europe PMC] [Abstract] Cited for: STRUCTURE BY NMR OF 238-439, COPPER-BINDING SITES, INTERACTION WITH ATOX1.
[18]	"Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations." Figus A., Angius A., Loudianos G., Bertini C., Dessi V., Loi A., Deiana M., Lovicu M., Olla N., Sole G., de Virgiliis S., Lilliu F., Farci A.M.G., Nurchi A., Giacchino R., Barabino A., Marazzi M., Zancan L. , Greggio N.A., Macellini M., Solinas A., Deplano A., Barbera C., Devoto M., Ozsoylu S., Kocak N., Akar N., Karayalcin S., Mokini V., Cullufi P., Balestrieri A., Cao A., Pirastu M. Am. J. Hum. Genet. 57:1318-1324(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD, VARIANTS.
[19]	"Efficient detection of mutations in Wilson disease by manifold sequencing." Waldenstroem E., Lagerkvist A., Dahlman T., Westermark K., Landegren U. Genomics 37:303-309(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD PHE-967; MET-977; ASP-1106; ARG-1153 AND SER-1355.
[20]	"Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients." Loudianos G., Dessi V., Angius A., Lovicu M., Loi A., Deiana M., Akar N., Vajro P., Figus A., Cao A., Pirastu M. Hum. Genet. 98:640-642(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD.
[21]	"High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease." Chuang L.-M., Wu H.-P., Jang M.-H., Wang T.-R., Sue W.-C., Lin B.J., Cox D.W., Tai T.-Y. J. Med. Genet. 33:521-523(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD GLN-778 AND LEU-778.
[22]	"Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses." Shah A.B., Chernov I., Zhang H.T., Ross B.M., Das K., Lutsenko S., Parano E., Pavone L., Evgrafov O., Ivanova-Smolenskaya I.A., Anneren G., Westermark K., Urrutia F.H., Penchaszadeh G.K., Sternlieb I., Scheinberg I.H., Gilliam T.C., Petrukhin K. Am. J. Hum. Genet. 61:317-328(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD.
[23]	"Identification of a novel missense mutation in Wilson's disease gene." Fan Y., Yang R., Yu L., Wu M., Shi S., Ren M., Han Y., Hu J., Zhao S. Chin. Med. J. 110:887-890(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT WD CYS-693.
[24]	"24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease." Orru S., Thomas G., Loizedda A., Cox D.W., Contu L. Hum. Mutat. 10:84-85(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD VAL-1278 AND 1285-GLY--ILE-1292 DEL.
[25]	"A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts." Kemppainen R., Palatsi R., Kallioinen M., Oikarinen A. J. Invest. Dermatol. 108:35-39(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT WD LYS-1038.
[26]	"His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype." Ha-Hao D., Hefter H., Stremmel W., Castaneda-Guillot C., Hernandez Hernandez A., Cox D.W., Auburger G. Eur. J. Hum. Genet. 6:616-623(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD ALA-710; CYS-741; ILE-1031; GLN-1069 AND ARG-1176, VARIANTS LEU-456; GLY-949 AND ALA-1140.
[27]	"Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups." Kalinsky H., Funes A., Zeldin A., Pel-Or Y., Korostishevsky M., Gershoni-Baruch R., Farrer L.A., Bonne-Tamir B. Hum. Mutat. 11:145-151(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD ARG-645; ASN-765; GLN-969; ALA-1064; GLN-1069; VAL-1213 AND 1216-VAL-VAL-1217 DEL, VARIANTS SER-565; GLY-723; ARG-832 AND ALA-1140.
[28]	"Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease." Kim E.K., Yoo O.J., Song K.Y., Yoo H.W., Choi S.Y., Cho S.W., Hahn S.H. Hum. Mutat. 11:275-278(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD LEU-778; VAL-874 AND PHE-1083, VARIANTS ARG-832; ILE-864; MET-1109 AND ALA-1140.
[29]	"Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population." Yamaguchi A., Matsuura A., Arashima S., Kikuchi Y., Kikuchi K. Hum. Mutat. Suppl. 1:S320-S322(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD LEU-778; VAL-874; GLY-919; SER-1186; ALA-1267 AND SER-1270.
[30]	"Further delineation of the molecular pathology of Wilson disease in the Mediterranean population." Loudianos G., Dessi V., Lovicu M., Angius A., Nurchi A., Sturniolo G.C., Marcellini M., Zancan L., Bragetti P., Akar N., Yagci R., Vegnente A., Cao A., Pirastu M. Hum. Mutat. 12:89-94(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD VAL-85; SER-492; 608-PHE-ASP-609 DELINS TYR; HIS-642; ARG-645; ILE-665; ARG-691; PHE-747; TRP-778; LEU-840; ASN-918; TRP-919; ASN-921; PRO-933; LEU-992; THR-1003; VAL-1018; TRP-1041; VAL-1089; MET-1146; GLY-1183; THR-1183; MET-1216; ASP-1341 AND SER-1358.
[31]	"Mutation analysis of Wilson disease in Taiwan and description of six new mutations." Tsai C.-H., Tsai F.-J., Wu J.-Y., Chang J.-G., Lee C.-C., Lin S.-P., Yang C.-F., Jong Y.-J., Lo M.-C. Hum. Mutat. 12:370-376(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD.
[32]	"Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients." Wu Z., Wang N., Murong S., Lin M. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 16:91-93(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT WD PRO-1041.
[33]	"Mutation analysis in patients with Wilson disease: identification of 4 novel mutations." Haas R., Gutierrez-Rivero B., Knoche J., Boeker K., Manns M.P., Schmidt H.H.-J. Hum. Mutat. 14:88-88(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD 670-TYR-MET-671 DEL; TYR-985 AND THR-1148.
[34]	"Molecular characterization of Wilson disease in the Sardinian population -- evidence of a founder effect." Loudianos G., Dessi V., Lovicu M., Angius A., Figus A., Lilliu F., De Virgiliis S., Nurchi A.M., Deplano A., Moi P., Pirastu M., Cao A. Hum. Mutat. 14:294-303(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD.
[35]	"A study of Wilson disease mutations in Britain." Curtis D., Durkie M., Balac P., Sheard D., Goodeve A., Peake I., Quarrell O., Tanner S. Hum. Mutat. 14:304-311(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD.
[36]	"The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease." Ivanova-Smolenskaya I.A., Ovchinnikov I.V., Karabanov A.V., Deineko N.L., Poleshchuk V.V., Markova E.D., Illarioshkin S.N. J. Med. Genet. 36:174-174(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT WD GLN-1069.
[37]	"Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations." Loudianos G., Dessi V., Lovicu M., Angius A., Altuntas B., Giacchino R., Marazzi M., Marcellini M., Sartorelli M.R., Sturniolo G.C., Kocak N., Yuce A., Akar N., Pirastu M., Cao A. J. Med. Genet. 36:833-836(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD SER-710; ARG-711; LEU-840; VAL-874; GLN-969; VAL-1003; TRP-1041; PRO-1041; GLU-1061; VAL-1063; GLY-1068; GLN-1069; GLU-1089; PHE-1104; HIS-1151; THR-1169; LYS-1173; VAL-1222; PHE-1262; VAL-1327; PHE-1363 AND MET-1434, VARIANTS ARG-1207 AND ILE-1297.
[38]	"Molecular analysis and diagnosis in Japanese patients with Wilson's disease." Shimizu N., Nakazono H., Takeshita Y., Ikeda C., Fujii H., Watanabe A., Yamaguchi Y., Hemmi H., Shimatake H., Aoki T. Pediatr. Int. 41:409-413(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD LEU-778; VAL-874; GLY-919; ILE-1029; VAL-1035; SER-1186 AND ASN-1222.
[39]	"Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations." Loudianos G., Lovicu M., Solinas P., Kanavakis E., Tzetis M., Manolaki N., Panagiotakaki E., Karpathios T., Cao A. Genet. Test. 4:399-402(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD SER-486; GLY-778; MET-890; GLN-969; GLU-1061; GLN-1069; SER-1099 AND THR-1148.
[40]	"High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study." Garcia-Villarreal L., Daniels S., Shaw S.H., Cotton D., Galvin M., Geskes J., Bauer P., Sierra-Hernandez A., Buckler A., Tugores A. Hepatology 32:1329-1336(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT WD PRO-708.
[41]	"Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease." Okada T., Shiono Y., Hayashi H., Satoh H., Sawada T., Suzuki A., Takeda Y., Yano M., Michitaka K., Onji M., Mabuchi H. Hum. Mutat. 15:454-462(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD ILE-769; LEU-778; TRP-778; VAL-874; GLY-919; THR-1003; PHE-1083; SER-1186; ALA-1267; SER-1270; THR-1336 AND PRO-1373, VARIANTS ALA-406; LEU-456 AND ALA-1140.
[42]	"Novel mutations of the ATP7B gene in Japanese patients with Wilson disease." Kusuda Y., Hamaguchi K., Mori T., Shin R., Seike M., Sakata T. J. Hum. Genet. 45:86-91(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD LEU-778; VAL-874 AND VAL-1297 DEL, VARIANTS LEU-290; ALA-406; LEU-456; ARG-832; ALA-1140 AND GLU-1407.
[43]	"Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association." Lee C.C., Wu J.Y., Tsai F.J., Kodama H., Abe T., Yang C.F., Tsai C.H. J. Hum. Genet. 45:275-279(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT WD GLY-1279.
[44]	"Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease." Genschel J., Czlonkowska A., Sommer G., Buettner C., Bochow B., Lochs H., Schmidt H. Hum. Mutat. 17:156-156(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD LEU-760 AND PRO-1305.
[45]	"High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis." Caca K., Ferenci P., Kuehn H.-J., Polli C., Willgerodt H., Kunath B., Hermann W., Moessner J., Berr F. J. Hepatol. 35:575-581(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD TRP-616; ALA-710; SER-710; LEU-760; ASN-765; VAL-769; GLN-969; LEU-992; GLN-1069 AND SER-1270, VARIANTS ALA-406; LEU-456 AND ARG-832.
[46]	"Molecular diagnosis of Wilson disease." Butler P., McIntyre N., Mistry P.K. Mol. Genet. Metab. 72:223-230(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD TRP-778; ARG-898; GLN-1069; THR-1102 AND ARG-1266.
[47]	"Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene." Ohya K., Abo W., Tamaki H., Sugawara C., Endo T., Nomachi S., Fukushi M., Kinebuchi M., Matsuura A. Eur. J. Pediatr. 161:124-126(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD PHE-1083 AND ASN-1296.
[48]	"Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease." Yoo H.-W. Genet. Med. 4:43S-48S(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD HIS-768; LEU-778; VAL-874; PHE-1083; SER-1168; ILE-1255; ALA-1267 AND SER-1270.
[49]	"Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B." Loudianos G., Lovicu M., Dessi V., Tzetis M., Kanavakis E., Zancan L., Zelante L., Galvez-Galvez C., Cao A. Hum. Mutat. 20:260-266(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD PRO-721 AND GLY-1183.
[50]	"Two families with Wilson disease in which siblings showed different phenotypes." Takeshita Y., Shimizu N., Yamaguchi Y., Nakazono H., Saitou M., Fujikawa Y., Aoki T. J. Hum. Genet. 47:543-547(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD LEU-778; VAL-874 AND GLY-919.
[51]	"Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease." Gu Y.-H., Kodama H., Du S.-L., Gu Q.-J., Sun H.-J., Ushijima H. Clin. Genet. 64:479-484(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD VAL-85; GLY-765; LEU-778; MET-890; GLY-919; MET-935; TYR-975; LEU-992; ARG-1098; THR-1148; LYS-1173 AND ASN-1248, VARIANTS ASP-14; ALA-406; LEU-456; ARG-832; ALA-1140; ASN-1143 AND SER-1245.
[52]	"A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease." Majumdar R., Al Jumah M., Zaidan R. Eur. Neurol. 51:52-54(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT WD SER-1341.
[53]	"Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients." Deguti M.M., Genschel J., Cancado E.L.R., Barbosa E.R., Bochow B., Mucenic M., Porta G., Lochs H., Carrilho F.J., Schmidt H.H.-J. Hum. Mutat. 23:398-398(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD SER-41; GLY-949; LEU-1094; PRO-1232 AND ARG-1373.
[54]	"Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation." Pendlebury S.T., Rothwell P.M., Dalton A., Burton E.A. Neurology 63:1982-1983(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT WD ARG-766.
[55]	"Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease." Liu X.-Q., Zhang Y.-F., Liu T.-T., Hsiao K.-J., Zhang J.-M., Gu X.-F., Bao K.-R., Yu L.-H., Wang M.-X. World J. Gastroenterol. 10:590-593(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD LEU-778; ASP-943; ILE-1106; ALA-1140 AND MET-1216.
[56]	"Wilson disease: high prevalence in a mountainous area of Crete." Dedoussis G.V.Z., Genschel J., Sialvera T.-E., Bochow B., Manolaki N., Manios Y., Tsafantakis E., Schmidt H. Ann. Hum. Genet. 69:268-274(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD THR-1148 AND ARG-1176.
[57]	"Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype." Kumar S., Thapa B.R., Kaur G., Prasad R. Clin. Genet. 67:443-445(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD HIS-992; THR-1003; THR-1102; TYR-1104 AND ARG-1256.
[58]	"Mutation analysis of Wilson disease in the Spanish population -identification of a prevalent substitution and eight novel mutations in the ATP7B gene." Margarit E., Bach V., Gomez D., Bruguera M., Jara P., Queralt R., Ballesta F. Clin. Genet. 68:61-68(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD ARG-645; LEU-690; ARG-869; SER-943; MET-977; GLU-1061; GLN-1069; SER-1099; MET-1216 AND PRO-1232, VARIANTS ALA-406; LEU-456; ARG-832 AND ALA-1140.
[59]	"Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population." Todorov T., Savov A., Jelev H., Panteleeva E., Konstantinova D., Krustev Z., Mihaylova V., Tournev I., Tankova L., Tzolova N., Kremensky I. Clin. Genet. 68:474-476(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD GLN-616; ALA-626; TRP-778; GLY-778; VAL-874; GLN-969; THR-1003; GLN-1069; 1217-VAL-LEU-1218 DEL; SER-1270; TYR-1279; ASP-1341; SER-1352 AND PRO-1368.
[60]	"Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease." Gromadzka G., Schmidt H.H.-J., Genschel J., Bochow B., Rodo M., Tarnacka B., Litwin T., Chabik G., Czlonkowska A. Clin. Genet. 68:524-532(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD GLN-616; TYR-639; TYR-653; PRO-776; GLY-778; MET-977; ARG-988; LEU-992; GLN-1069; PRO-1095; MET-1220; LEU-1273 AND ASP-1341.
[61]	"Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry." Cox D.W., Prat L., Walshe J.M., Heathcote J., Gaffney D. Hum. Mutat. 26:280-280(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD HIS-532; ASP-591; PRO-604; SER-641; TYR-703; VAL-710; GLY-756; MET-766; THR-861; CYS-943; MET-991; THR-996; ARG-1000; GLU-1176; GLU-1221; SER-1287; SER-1331; VAL-1341; SER-1375 AND SER-1379.
[62]	"Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease." Vrabelova S., Letocha O., Borsky M., Kozak L. Mol. Genet. Metab. 86:277-285(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD SER-641; SER-710; ARG-737; GLY-778; GLU-918; GLN-969; MET-977; VAL-1018; SER-1033; TRP-1041; VAL-1063; LYS-1064; GLN-1069; THR-1102; ASP-1111; THR-1148; ARG-1176; SER-1186; ASN-1271; LEU-1273; PRO-1305; ASP-1341 AND CYS-1355, VARIANTS LEU-456; ARG-832 AND ALA-1140.
[63]	"Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease." Barada K., Nemer G., ElHajj I.I., Touma J., Cortas N., Boustany R.-M., Usta J. Clin. Genet. 72:264-267(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT WD ARG-691.
[64]	"New mutations in the Wilson disease gene, ATP7B: implications for molecular testing." Davies L.P., Macintyre G., Cox D.W. Genet. Test. 12:139-145(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD ALA-536; ARG-657; VAL-971; MET-974; PRO-1004; ALA-1149; ASN-1164; GLY-1173; THR-1228; VAL-1230; VAL-1267; THR-1328 AND ILE-1359, VARIANTS ALA-406; LEU-456; ARG-832; LYS-952 AND ALA-1140.
[65]	"Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system." Hsi G., Cullen L.M., Macintyre G., Chen M.M., Glerum D.M., Cox D.W. Hum. Mutat. 29:491-501(2008) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS WD HIS-532; ALA-626; HIS-642; TRP-1041; LYS-1064; PHE-1083; ASP-1106; ALA-1140; VAL-1169; THR-1183 AND SER-1186.
[66]	"Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients." Abdel Ghaffar T.Y., Elsayed S.M., Elnaghy S., Shadeed A., Elsobky E.S., Schmidt H. BMC Pediatr. 11:56-56(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WD PRO-549; HIS-642; TYR-703; PRO-744; ASN-765; GLY-778; MET-977; ASP-998; VAL-1063; GLN-1069; ARG-1207; LEU-1273; ASP-1332; ARG-1341 AND ASP-1341.
+	Additional computationally mapped references.

Web resources

GeneReviews

Wilson Disease Mutation Database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

U11700 mRNA. Translation: AAA92667.1.
DQ015922 mRNA. Translation: AAY41166.1.
AL139082, AL138821, AL162377 Genomic DNA. Translation: CAI12888.1.
AL162377, AL138821, AL139082 Genomic DNA. Translation: CAI13428.1.
AL138821, AL139082, AL162377 Genomic DNA. Translation: CAI13743.1.
AF034838 Genomic DNA. Translation: AAD01998.1.
U03464 mRNA. Translation: AAB52902.1.
L25591 mRNA. Translation: AAA79211.1. Frameshift.
L25591 mRNA. Translation: AAA79212.1. Frameshift.
L25442 mRNA. Translation: AAA16173.1. Frameshift.
AB209461 mRNA. Translation: BAD92698.1.
S77446 Genomic DNA. Translation: AAD14987.1.
S77447 Genomic DNA. Translation: AAB34086.1.
S77450 Genomic DNA. Translation: AAB34087.1.

IPI

IPI00020058.
IPI00216296.
IPI00515019.
IPI00658175.

PIR

I78536.
I78537.
S78555.

RefSeq

NP_000044.2. NM_000053.3.
NP_001230111.1. NM_001243182.1.

UniGene

Hs.492280.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2ARF	NMR	-	A	1036-1196	[»]
2EW9	NMR	-	A	486-633	[»]
2KOY	NMR	-	A	1036-1196	[»]
2ROP	NMR	-	A	238-439	[»]

ProteinModelPortal

P35670.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000242839.

Protein family/group databases

TCDB

3.A.3.5.3. P-type ATPase (P-ATPase) superfamily.

PTM databases

PhosphoSite

P35670.

Polymorphism databases

DMDM

239938919.

Proteomic databases

PaxDb

P35670.

PRIDE

P35670.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000242839; ENSP00000242839; ENSG00000123191.
ENST00000344297; ENSP00000342559; ENSG00000123191.
ENST00000400366; ENSP00000383217; ENSG00000123191.

GeneID

540.

KEGG

hsa:540.

UCSC

uc001vfv.2. human.
uc001vfx.2. human.
uc001vfy.2. human.

Organism-specific databases

CTD

540.

GeneCards

GC13M052506.

HGNC

HGNC:870. ATP7B.

HPA

HPA013187.

MIM

277900. phenotype.
606882. gene.

neXtProt

NX_P35670.

Orphanet

905. Wilson disease.

PharmGKB

PA73.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG2217.

HOGENOM

HOG000250397.

HOVERGEN

HBG050616.

InParanoid

P35670.

KO

K01533.

OMA

QIKGMTC.

OrthoDB

EOG43N7BZ.

PhylomeDB

P35670.

Enzyme and pathway databases

BRENDA

3.6.3.4. 2681.

Reactome

REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpress

P35670.

Bgee

P35670.

CleanEx

HS_ATP7B.

Genevestigator

P35670.

GermOnline

ENSG00000123191. Homo sapiens.

Family and domain databases

Gene3D

2.70.150.10. 1 hit.
3.40.1110.10. 2 hits.
3.40.50.1000. 2 hits.

InterPro

IPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR027256. Cation_transp_P-typ_ATPase_IB.
IPR001757. Cation_transp_P_typ_ATPase.
IPR023214. HAD-like_dom.
IPR017969. Heavy-metal-associated_CS.
IPR006121. HeavyMe-assoc_HMA.
IPR006122. HMA_Cu_ion-bd.
[Graphical view]

PANTHER

PTHR24093. PTHR24093. 1 hit.

Pfam

PF00122. E1-E2_ATPase. 1 hit.
PF00403. HMA. 6 hits.
PF00702. Hydrolase. 1 hit.
[Graphical view]

PRINTS

PR00119. CATATPASE.

SUPFAM

SSF56784. HAD-like_dom. 1 hit.
SSF55008. HeavyMe_transpt. 6 hits.

TIGRFAMs

TIGR01525. ATPase-IB_hvy. 1 hit.
TIGR01494. ATPase_P-type. 2 hits.
TIGR00003. TIGR00003. 6 hits.

PROSITE

PS00154. ATPASE_E1_E2. 1 hit.
PS01047. HMA_1. 6 hits.
PS50846. HMA_2. 6 hits.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

P35670.

GenomeRNAi

540.

NextBio

2239.

SOURCE

Search...

Entry information

Entry name

ATP7B_HUMAN

Accession

Primary (citable) accession number: P35670
Secondary accession number(s): Q16318 , Q16319, Q4U3V3, Q59FJ9, Q5T7X7

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	June 16, 2009
Last modified:	May 1, 2013
This is version 155 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.