ATP7A
entrez
538
canonical
uniprot
Q04656
canonical
ensembl
ENSG00000165240
resolver
ensp
ENSP00000345728
resolver
ensp
ENSP00000509477
resolver
genesymbol
ATP7A
resolver
genesymbol_syn
MC1
resolver
genesymbol_syn
MNK
resolver
hgnc
HGNC:869
resolver
uniprot
B1AT72
resolver
uniprot
B4DRW0
resolver
uniprot
O00227
resolver
uniprot
O00745
resolver
uniprot
Q762B6
resolver
uniprot
Q9BYY8
resolver
uniprot_entry
ATP7A_HUMAN
resolver
uniprot_entry
B4DRW0_HUMAN
resolver
uniprot_entry
Q762B6_HUMAN
resolver
uniprot_sec
B1AT72
resolver
uniprot_sec
O00227
resolver
uniprot_sec
O00745
resolver
uniprot_sec
Q9BYY8
resolver
amino_acid_sequence
MDPSMGVNSVTISVEGMTCNSCVWTIEQQIGKVNGVHHIKVSLEEKNATIIYDPKLQTPKTLQEAIDDMGFDAVIHNPDPLPVLTDTLFLTVTASLTLPWDHIQSTLLKTKGVTDIKIYPQKRTVAVTIIPSIVNANQIKELVPELSLDTGTLEKKSGACEDHSMAQAGEVVLKMKVEGMTCHSCTSTIEGKIGKLQGVQRIKVSLDNQEATIVYQPHLISVEEMKKQIEAMGFPAFVKKQPKYLKLGAIDVERLKNTPVKSSEGSQQRSPSYTNDSTATFIIDGMHCKSCVSNIESTLSALQYVSSIVVSLENRSAIVKYNASSVTPESLRKAIEAVSPGLYRVSITSEVESTSNSPSSSSLQKIPLNVVSQPLTQETVINIDGMTCNSCVQSIEGVISKKPGVKSIRVSLANSNGTVEYDPLLTSPETLRGAIEDMGFDATLSDTNEPLVVIAQPSSEMPLLTSTNEFYTKGMTPVQDKEEGKNSSKCYIQVTGMTCASCVANIERNLRREEGIYSILVALMAGKAEVRYNPAVIQPPMIAEFIRELGFGATVIENADEGDGVLELVVRGMTCASCVHKIESSLTKHRGILYCSVALATNKAHIKYDPEIIGPRDIIHTIESLGFEASLVKKDRSASHLDHKREIRQWRRSFLVSLFFCIPVMGLMIYMMVMDHHFATLHHNQNMSKEEMINLHSSMFLERQILPGLSVMNLLSFLLCVPVQFFGGWYFYIQAYKALKHKTANMDVLIVLATTIAFAYSLIILLVAMYERAKVNPITFFDTPPMLFVFIALGRWLEHIAKGKTSEALAKLISLQATEATIVTLDSDNILLSEEQVDVELVQRGDIIKVVPGGKFPVDGRVIEGHSMVDESLITGEAMPVAKKPGSTVIAGSINQNGSLLICATHVGADTTLSQIVKLVEEAQTSKAPIQQFADKLSGYFVPFIVFVSIATLLVWIVIGFLNFEIVETYFPGYNRSISRTETIIRFAFQASITVLCIACPCSLGLATPTAVMVGTGVGAQNGILIKGGEPLEMAHKVKVVVFDKTGTITHGTPVVNQVKVLTESNRISHHKILAIVGTAESNSEHPLGTAITKYCKQELDTETLGTCIDFQVVPGCGISCKVTNIEGLLHKNNWNIEDNNIKNASLVQIDASNEQSSTSSSMIIDAQISNALNAQQYKVLIGNREWMIRNGLVINNDVNDFMTEHERKGRTAVLVAVDDELCGLIAIADTVKPEAELAIHILKSMGLEVVLMTGDNSKTARSIASQVGITKVFAEVLPSHKVAKVKQLQEEGKRVAMVGDGINDSPALAMANVGIAIGTGTDVAIEAADVVLIRNDLLDVVASIDLSRKTVKRIRINFVFALIYNLVGIPIAAGVFMPIGLVLQPWMGSAAMAASSVSVVLSSLFLKLYRKPTYESYELPARSQIGQKSPSEISVHVGIDDTSRNSPKLGLLDRIVNYSRASINSLLSDKRSLNSVVTSEPDKHSLLVGDFREDDDTAL
uniprot
proteins
disease_involvement
DISEASE: Menkes disease (MNK) [MIM:309400]: An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate. {ECO:0000269|PubMed:10079817, ECO:0000269|PubMed:10319589, ECO:0000269|PubMed:10401004, ECO:0000269|PubMed:11241493, ECO:0000269|PubMed:11350187, ECO:0000269|PubMed:15981243, ECO:0000269|PubMed:21667063, ECO:0000269|PubMed:22992316, ECO:0000269|PubMed:28389643, ECO:0000269|PubMed:7977350, ECO:0000269|PubMed:8981948}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Occipital horn syndrome (OHS) [MIM:304150]: An X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities include occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga. {ECO:0000269|PubMed:11431706, ECO:0000269|PubMed:17108763, ECO:0000269|PubMed:21667063, ECO:0000269|PubMed:28389643, ECO:0000269|PubMed:9246006}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neuronopathy, distal hereditary motor, X-linked (HMNX) [MIM:300489]: A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. {ECO:0000269|PubMed:20170900}. 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: ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis (PubMed:10419525, PubMed:11092760, PubMed:28389643). Within a catalytic cycle, acquires Cu(+) ion from donor protein on the cytoplasmic side of the membrane and delivers it to acceptor protein on the lumenal side. The transfer of Cu(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state (PubMed:10419525, PubMed:19453293, PubMed:19917612, PubMed:28389643, PubMed:31283225). Under physiological conditions, at low cytosolic copper concentration, it is localized at the trans-Golgi network (TGN) where it transfers Cu(+) ions to cuproenzymes of the secretory pathway (PubMed:11092760, PubMed:28389643). Upon elevated cytosolic copper concentrations, it relocalizes to the plasma membrane where it is responsible for the export of excess Cu(+) ions (PubMed:10419525, PubMed:28389643). May play a dual role in neuron function and survival by regulating cooper efflux and neuronal transmission at the synapse as well as by supplying Cu(+) ions to enzymes such as PAM, TYR and SOD3 (By similarity) (PubMed:28389643). In the melanosomes of pigmented cells, provides copper cofactor to TYR to form an active TYR holoenzyme for melanin biosynthesis (By similarity). {ECO:0000250|UniProtKB:Q64430, ECO:0000269|PubMed:10419525, ECO:0000269|PubMed:11092760, ECO:0000269|PubMed:19453293, ECO:0000269|PubMed:19917612, ECO:0000269|PubMed:28389643, ECO:0000269|PubMed:31283225}.
uniprot
proteins
mass_dalton
163373
uniprot
proteins
mutagenesis
MUTAGEN 22; /note="C->A: Impairs Cu(+)-bridged heterodimer formation with ATOX1 while increasing the reactivity toward cisplatin."; /evidence="ECO:0000269|PubMed:31283225"; MUTAGEN 1044; /note="D->E: Impairs tyrosinase activity involved in melanin synthesis."; /evidence="ECO:0000269|PubMed:11092760"; MUTAGEN 1487..1488; /note="LL->AA: Loss of relocalization to the trans-Golgi."; /evidence="ECO:0000269|PubMed:10484781
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type IB subfamily
uniprot
proteins
pubmed
10079814
uniprot
proteins
pubmed
10079817
uniprot
proteins
pubmed
10319589
uniprot
proteins
pubmed
10401004
uniprot
proteins
pubmed
10419525
uniprot
proteins
pubmed
10484781
uniprot
proteins
pubmed
10970802
uniprot
proteins
pubmed
11092760
uniprot
proteins
pubmed
11214319
uniprot
proteins
pubmed
11241493
uniprot
proteins
pubmed
11350187
uniprot
proteins
pubmed
11431706
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15981243
uniprot
proteins
pubmed
16051599
uniprot
proteins
pubmed
16371425
uniprot
proteins
pubmed
17108763
uniprot
proteins
pubmed
19453293
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19917612
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20170900
uniprot
proteins
pubmed
21667063
uniprot
proteins
pubmed
22992316
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28389643
uniprot
proteins
pubmed
31283225
uniprot
proteins
pubmed
7490081
uniprot
proteins
pubmed
7607665
uniprot
proteins
pubmed
7977350
uniprot
proteins
pubmed
8490646
uniprot
proteins
pubmed
8490647
uniprot
proteins
pubmed
8490659
uniprot
proteins
pubmed
8981948
uniprot
proteins
pubmed
9147644
uniprot
proteins
pubmed
9246006
uniprot
proteins
pubmed
9437429
uniprot
proteins
pubmed
9467005
uniprot
proteins
pubmed
9693104
uniprot
proteins
sequence_length
1500
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:10484781, ECO:0000269|PubMed:28389643, ECO:0000269|PubMed:9147644, ECO:0000269|PubMed:9467005}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:10484781, ECO:0000269|PubMed:28389643, ECO:0000269|PubMed:9147644}; Multi-pass membrane protein {ECO:0000255}. Melanosome membrane {ECO:0000250|UniProtKB:Q64430}; Multi-pass membrane protein {ECO:0000255}. Early endosome membrane {ECO:0000250|UniProtKB:Q64430}; Multi-pass membrane protein {ECO:0000255}. Cell projection, axon {ECO:0000250|UniProtKB:P70705}. Cell projection, dendrite {ECO:0000250|UniProtKB:P70705}. Postsynaptic density {ECO:0000250|UniProtKB:P70705}. Note=Cycles constitutively between the TGN and the plasma membrane (PubMed:9147644). Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels. Targeting into melanosomes is regulated by BLOC-1 complex (By similarity). In response to glutamate, translocates to neuron processes with a minor fraction at extrasynaptic sites (By similarity). {ECO:0000250|UniProtKB:P70705, ECO:0000250|UniProtKB:Q64430, ECO:0000269|PubMed:9147644}.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm, cytosol {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 5]: Endoplasmic reticulum {ECO:0000269|PubMed:9467005}.
uniprot
proteins
transmembrane_region
TRANSMEM 654..675; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 715..734; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 742..762; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 782..802; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 937..959; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 990..1011; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1357..1374; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1386..1405; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins