ATP7B
entrez
540
canonical
uniprot
P35670
canonical
ensembl
ENSG00000123191
resolver
ensp
ENSP00000242839
resolver
ensp
ENSP00000383217
resolver
ensp
ENSP00000383221
resolver
ensp
ENSP00000393343
resolver
ensp
ENSP00000416738
resolver
ensp
ENSP00000489398
resolver
ensp
ENSP00000500964
resolver
ensp
ENSP00000501168
resolver
ensp
ENSP00000518961
resolver
ensp
ENSP00000518962
resolver
ensp
ENSP00000543626
resolver
ensp
ENSP00000543627
resolver
ensp
ENSP00000543629
resolver
ensp
ENSP00000581560
resolver
enst
ENST00000400370
resolver
enst
ENST00000418097
resolver
enst
ENST00000448424
resolver
enst
ENST00000634844
resolver
enst
ENST00000673772
resolver
enst
ENST00000713659
resolver
enst
ENST00000713660
resolver
enst
ENST00000873568
resolver
genesymbol
ATP7B
resolver
genesymbol_syn
PWD
resolver
genesymbol_syn
WC1
resolver
genesymbol_syn
WND
resolver
hgnc
HGNC:870
resolver
uniprot
A0A669KB88
resolver
uniprot
A0AAQ5BGL6
resolver
uniprot
A0AAQ5BGP2
resolver
uniprot
A0ACI8PQU0
resolver
uniprot
B7ZLR3
resolver
uniprot
B7ZLR4
resolver
uniprot
E7ET55
resolver
uniprot
F5H562
resolver
uniprot
F5H748
resolver
uniprot
Q16318
resolver
uniprot
Q16319
resolver
uniprot
Q4U3V3
resolver
uniprot
Q59FJ9
resolver
uniprot
Q5T7X7
resolver
uniprot_entry
A0A669KB88_HUMAN
resolver
uniprot_entry
A0AAQ5BGL6_HUMAN
resolver
uniprot_entry
A0AAQ5BGP2_HUMAN
resolver
uniprot_entry
A0ACI8PQU0_HUMAN
resolver
uniprot_entry
ATP7B_HUMAN
resolver
uniprot_entry
B7ZLR3_HUMAN
resolver
uniprot_entry
B7ZLR4_HUMAN
resolver
uniprot_entry
E7ET55_HUMAN
resolver
uniprot_entry
F5H562_HUMAN
resolver
uniprot_entry
F5H748_HUMAN
resolver
uniprot_sec
Q16318
resolver
uniprot_sec
Q16319
resolver
uniprot_sec
Q4U3V3
resolver
uniprot_sec
Q59FJ9
resolver
uniprot_sec
Q5T7X7
resolver
amino_acid_sequence
MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATSTVRILGMTCQSCVKSIEDRISNLKGIISMKVSLEQGSATVKYVPSVVCLQQVCHQIGDMGFEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSNQEAVITYQPYLIQPEDLRDHVNDMGFEAAIKSKVAPLSLGPIDIERLQSTNPKRPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQLLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCSTTLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDMGFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQSTRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPLEIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALATSKALVKFDPEIIGPRDIIKIIEEIGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVFGIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYKSLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWLEHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFPVDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKHISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCKEELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAVPQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQEAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGKKVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRRIRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPDLERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSRHSAAADDDGDKWSLLLNGRDEEQYI
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:10051024, ECO:0000269|PubMed:10194254, ECO:0000269|PubMed:10447265, ECO:0000269|PubMed:10453196, ECO:0000269|PubMed:10502776, ECO:0000269|PubMed:10502777, ECO:0000269|PubMed:10544227, ECO:0000269|PubMed:10721669, ECO:0000269|PubMed:10790207, ECO:0000269|PubMed:10942420, ECO:0000269|PubMed:11043508, ECO:0000269|PubMed:11093740, ECO:0000269|PubMed:11180609, ECO:0000269|PubMed:11216666, ECO:0000269|PubMed:11231950, ECO:0000269|PubMed:11243728, ECO:0000269|PubMed:11405812, ECO:0000269|PubMed:11690702, ECO:0000269|PubMed:11954751, ECO:0000269|PubMed:12325021, ECO:0000269|PubMed:12376745, ECO:0000269|PubMed:12544487, ECO:0000269|PubMed:14639035, ECO:0000269|PubMed:14966923, ECO:0000269|PubMed:14986826, ECO:0000269|PubMed:15024742, ECO:0000269|PubMed:15557537, ECO:0000269|PubMed:15811015, ECO:0000269|PubMed:15845031, ECO:0000269|PubMed:15952988, ECO:0000269|PubMed:15967699, ECO:0000269|PubMed:16088907, ECO:0000269|PubMed:16207219, ECO:0000269|PubMed:16283883, ECO:0000269|PubMed:16649058, ECO:0000269|PubMed:17718866, ECO:0000269|PubMed:17823867, ECO:0000269|PubMed:17919502, ECO:0000269|PubMed:17949296, ECO:0000269|PubMed:18203200, ECO:0000269|PubMed:18373411, ECO:0000269|PubMed:19033537, ECO:0000269|PubMed:20333758, ECO:0000269|PubMed:21398519, ECO:0000269|PubMed:21454443, ECO:0000269|PubMed:21645214, ECO:0000269|PubMed:21682854, ECO:0000269|PubMed:22075048, ECO:0000269|PubMed:22240481, ECO:0000269|PubMed:22484412, ECO:0000269|PubMed:22763723, ECO:0000269|PubMed:23159873, ECO:0000269|PubMed:23235335, ECO:0000269|PubMed:23275100, ECO:0000269|PubMed:23333878, ECO:0000269|PubMed:23518715, ECO:0000269|PubMed:23962630, ECO:0000269|PubMed:24476933, ECO:0000269|PubMed:24555712, ECO:0000269|PubMed:24706876, ECO:0000269|PubMed:25704634, ECO:0000269|PubMed:25982861, ECO:0000269|PubMed:26004889, ECO:0000269|PubMed:28856630, ECO:0000269|PubMed:32284880, ECO:0000269|PubMed:7626145, ECO:0000269|PubMed:8298641, ECO:0000269|PubMed:8533760, ECO:0000269|PubMed:8782057, ECO:0000269|PubMed:8931691, ECO:0000269|PubMed:8938442, ECO:0000269|PubMed:8980283, ECO:0000269|PubMed:9222767, ECO:0000269|PubMed:9311736, ECO:0000269|PubMed:9452121, ECO:0000269|PubMed:9482578, ECO:0000269|PubMed:9554743, ECO:0000269|PubMed:9671269, ECO:0000269|PubMed:9772425, ECO:0000269|PubMed:9829905, ECO:0000269|PubMed:9837819, ECO:0000269|PubMed:9887381}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.2.2.8
uniprot
proteins
function
FUNCTION: Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload. {ECO:0000269|PubMed:18203200, ECO:0000269|PubMed:22240481, ECO:0000269|PubMed:24706876, ECO:0000269|PubMed:26004889}.
uniprot
proteins
mass_dalton
157263
uniprot
proteins
mutagenesis
MUTAGEN 32; /note="Missing: Does not affect copper-induced relocalization."; /evidence="ECO:0000269|PubMed:19033537"; MUTAGEN 37; /note="F->A: Altered copper-induced relocalization."; /evidence="ECO:0000269|PubMed:19033537"; MUTAGEN 39; /note="F->W,A: Altered copper-induced relocalization."; /evidence="ECO:0000269|PubMed:19033537"; MUTAGEN 39; /note="F->Y: Does not affect copper-induced relocalization."; /evidence="ECO:0000269|PubMed:19033537"; MUTAGEN 40; /note="D->A: Altered copper-induced relocalization."; /evidence="ECO:0000269|PubMed:19033537"; MUTAGEN 41; /note="N->A: Altered copper-induced relocalization."; /evidence="ECO:0000269|PubMed:19033537"; MUTAGEN 42; /note="V->A: Altered copper-induced relocalization."; /evidence="ECO:0000269|PubMed:19033537"; MUTAGEN 42; /note="V->I: Does not affect copper-induced relocalization."; /evidence="ECO:0000269|PubMed:19033537"; MUTAGEN 43; /note="G->A: Altered copper-induced relocalization."; /evidence="ECO:0000269|PubMed:19033537"; MUTAGEN 44; /note="Y->F: Does not affect copper-induced relocalization."; /evidence="ECO:0000269|PubMed:19033537"; MUTAGEN 44; /note="Y->W,A: Altered copper-induced relocalization."; /evidence="ECO:0000269|PubMed:19033537"; MUTAGEN 45; /note="E->A: Altered copper-induced relocalization."; /evidence="ECO:0000269|PubMed:19033537"; MUTAGEN 653; /note="S->F,D,E: Altered copper-induced relocalization."; /evidence="ECO:0000269|PubMed:24706876"; MUTAGEN 1027; /note="D->A: Loss of copper transport activity."; /evidence="ECO:0000269|PubMed:22240481"; MUTAGEN 1031; /note="T->S: Decreased copper transport activity with no effect on ATPase activity."; /evidence="ECO:0000269|PubMed:22240481"; MUTAGEN 1069; /note="H->A,C: Loss of ATPase activity. Cannot form an acylphosphate intermediate during catalysis. Does not alter folding of the nucleotide-binding domain."; /evidence="ECO:0000269|PubMed:12551905
uniprot
proteins
post_translational_modification
PTM: Isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form.
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type IB subfamily
uniprot
proteins
pubmed
10051024
uniprot
proteins
pubmed
10194254
uniprot
proteins
pubmed
10334941
uniprot
proteins
pubmed
10447265
uniprot
proteins
pubmed
10453196
uniprot
proteins
pubmed
10502776
uniprot
proteins
pubmed
10502777
uniprot
proteins
pubmed
10544227
uniprot
proteins
pubmed
10721669
uniprot
proteins
pubmed
10790207
uniprot
proteins
pubmed
10942420
uniprot
proteins
pubmed
11043508
uniprot
proteins
pubmed
11093740
uniprot
proteins
pubmed
11180609
uniprot
proteins
pubmed
11216666
uniprot
proteins
pubmed
11231950
uniprot
proteins
pubmed
11243728
uniprot
proteins
pubmed
11405812
uniprot
proteins
pubmed
11690702
uniprot
proteins
pubmed
11954751
uniprot
proteins
pubmed
12325021
uniprot
proteins
pubmed
12376745
uniprot
proteins
pubmed
12544487
uniprot
proteins
pubmed
12551905
uniprot
proteins
pubmed
12968035
uniprot
proteins
pubmed
14639035
uniprot
proteins
pubmed
14966923
uniprot
proteins
pubmed
14986826
uniprot
proteins
pubmed
15024742
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15557537
uniprot
proteins
pubmed
15681833
uniprot
proteins
pubmed
15811015
uniprot
proteins
pubmed
15845031
uniprot
proteins
pubmed
15952988
uniprot
proteins
pubmed
15967699
uniprot
proteins
pubmed
16088907
uniprot
proteins
pubmed
16207219
uniprot
proteins
pubmed
16283883
uniprot
proteins
pubmed
16554302
uniprot
proteins
pubmed
16649058
uniprot
proteins
pubmed
16676348
uniprot
proteins
pubmed
17718866
uniprot
proteins
pubmed
17823867
uniprot
proteins
pubmed
17919502
uniprot
proteins
pubmed
17949296
uniprot
proteins
pubmed
18203200
uniprot
proteins
pubmed
18373411
uniprot
proteins
pubmed
18558714
uniprot
proteins
pubmed
19033537
uniprot
proteins
pubmed
20032459
uniprot
proteins
pubmed
20333758
uniprot
proteins
pubmed
21398519
uniprot
proteins
pubmed
21406592
uniprot
proteins
pubmed
21454443
uniprot
proteins
pubmed
21645214
uniprot
proteins
pubmed
21682854
uniprot
proteins
pubmed
22075048
uniprot
proteins
pubmed
22240481
uniprot
proteins
pubmed
22484412
uniprot
proteins
pubmed
22763723
uniprot
proteins
pubmed
23159873
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23235335
uniprot
proteins
pubmed
23275100
uniprot
proteins
pubmed
23333878
uniprot
proteins
pubmed
23518715
uniprot
proteins
pubmed
23962630
uniprot
proteins
pubmed
24303094
uniprot
proteins
pubmed
24476933
uniprot
proteins
pubmed
24555712
uniprot
proteins
pubmed
24706876
uniprot
proteins
pubmed
25704634
uniprot
proteins
pubmed
25982861
uniprot
proteins
pubmed
26004889
uniprot
proteins
pubmed
28107647
uniprot
proteins
pubmed
28856630
uniprot
proteins
pubmed
32284880
uniprot
proteins
pubmed
7626145
uniprot
proteins
pubmed
7833924
uniprot
proteins
pubmed
8250934
uniprot
proteins
pubmed
8298639
uniprot
proteins
pubmed
8298641
uniprot
proteins
pubmed
8533760
uniprot
proteins
pubmed
8782057
uniprot
proteins
pubmed
8931691
uniprot
proteins
pubmed
8938442
uniprot
proteins
pubmed
8980283
uniprot
proteins
pubmed
9222767
uniprot
proteins
pubmed
9307043
uniprot
proteins
pubmed
9311736
uniprot
proteins
pubmed
9452121
uniprot
proteins
pubmed
9482578
uniprot
proteins
pubmed
9554743
uniprot
proteins
pubmed
9600907
uniprot
proteins
pubmed
9671269
uniprot
proteins
pubmed
9772425
uniprot
proteins
pubmed
9829905
uniprot
proteins
pubmed
9837819
uniprot
proteins
pubmed
9887381
uniprot
proteins
sequence_length
1465
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:17919502, ECO:0000269|PubMed:19033537, ECO:0000269|PubMed:22240481, ECO:0000269|PubMed:24706876}; Multi-pass membrane protein {ECO:0000255}. Late endosome {ECO:0000269|PubMed:11231950, ECO:0000269|PubMed:15681833}. Note=Predominantly found in the trans-Golgi network (TGN). Localized in the trans-Golgi network under low copper conditions, redistributes to cytoplasmic vesicles when cells are exposed to elevated copper levels, and then recycles back to the trans-Golgi network when copper is removed (PubMed:10942420). {ECO:0000269|PubMed:10942420, ECO:0000269|PubMed:22240481, ECO:0000269|PubMed:24706876, ECO:0000269|PubMed:9307043}.; SUBCELLULAR LOCATION: [Isoform 1]: Golgi apparatus membrane {ECO:0000269|PubMed:9307043}; Multi-pass membrane protein {ECO:0000269|PubMed:9307043}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:9307043}.; SUBCELLULAR LOCATION: [WND/140 kDa]: Mitochondrion {ECO:0000269|PubMed:9600907}.
uniprot
proteins
transmembrane_region
TRANSMEM 654..675; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 698..717; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 725..745; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 765..785; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 920..942; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 973..994; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1323..1340; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1352..1371; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins