Atp7a
entrez
11977
canonical
uniprot
Q64430
canonical
ensembl
ENSMUSG00000033792
resolver
ensp
ENSMUSP00000058840
resolver
ensp
ENSMUSP00000109186
resolver
enst
ENSMUST00000055941
resolver
enst
ENSMUST00000113557
resolver
genesymbol
Atp7a
resolver
genesymbol_syn
Mnk
resolver
uniprot
A2AG68
resolver
uniprot
A2AG69
resolver
uniprot
O35101
resolver
uniprot
P97422
resolver
uniprot
Q64431
resolver
uniprot_entry
A2AG68_MOUSE
resolver
uniprot_entry
ATP7A_MOUSE
resolver
uniprot_sec
A2AG69
resolver
uniprot_sec
O35101
resolver
uniprot_sec
P97422
resolver
uniprot_sec
Q64431
resolver
amino_acid_sequence
MEPSVDANSITITVEGMTCISCVRTIEQQIGKVNGVHHIKVSLEEKSATIIYDPKLQTPKTLQEAIDDMGFDALLHNANPLPVLTNTVFLTVTAPLTLPWDHIQSTLLKTKGVTGVKISPQQRSAVVTIIPSVVSASQIVELVPDLSLDMGTQEKKSGACEEHSTPQAGEVMLKMKVEGMTCHSCTSTIEGKVGKLQGVQRIKVSLDNQEATIVFQPHLITAEEIKKQIEAVGFPAFIKKQPKYLKLGAIDVERLKNTPVKSSEGSQQKSPSYPSDSTTMFTIEGMHCKSCVSNIESALSTLQYVSSIVVSLENRSAIVKYNASLVTPEMLRKAIEAISPGQYRVSIASEVESTASSPSSSSLQKMPLNIVSQPLTQEAVININGMTCNSCVQSIEGVISKKPGVKSIHVSLANSTGTIEFDPLLTSPETLREAIEDMGFDAALPDMKEPLVVIAQPSLETPLLPSSNELENVMTSVQNKCYIQVSGMTCASCVANIERNLRREEGIYSVLVALMAGKAEVRYNPAVIQPRVIAEFIRELGFGAMVMENAGEGNGILELVVRGMTCASCVHKIESTLTKHKGIFYCSVALATNKAHIKYDPEIIGPRDIIHTIGSLGFEASLVKKDRSANHLDHKREIKQWRGSFLVSLFFCIPVMGLMVYMMVMDHHLATLHHNQNMSNEEMINMHSAMFLERQILPGLSIMNLLSLLLCLPVQFCGGWYFYIQAYKALKHKTANMDVLIVLATTIAFAYSLVILLVAMFERAKVNPITFFDTPPMLFVFIALGRWLEHIAKGKTSEALAKLISLQATEATIVTLNSENLLLSEEQVDVELVQRGDIIKVVPGGKFPVDGRVIEGHSMVDESLITGEAMPVAKKPGSTVIAGSINQNGSLLIRATHVGADTTLSQIVKLVEEAQTSKAPIQQFADKLSGYFVPFIVLVSIVTLLVWIIIGFQNFEIVETYFPGYNRSISRTETIIRFAFQASITVLCIACPCSLGLATPTAVMVGTGVGAQNGILIKGGEPLEMAHKVKVVVFDKTGTITHGTPVVNQVKVLVESNKISRNKILAIVGTAESNSEHPLGAAVTKYCKKELDTETLGTCTDFQVVPGCGISCKVTNIEGLLHKSNLKIEENNIKNASLVQIDAINEQSSTSSSMIIDAHLSNAVNTQQYKVLIGNREWMIRNGLVISNDVDESMIEHERRGRTAVLVTIDDELCGLIAIADTVKPEAELAVHILKSMGLEVVLMTGDNSKTARSIASQVGITKVFAEVLPSHKVAKVKQLQEEGKRVAMVGDGINDSPALAMANVGIAIGTGTDVAIEAADVVLIRNDLLDVVASIDLSRKTVKRIRINFVFALIYNLVGIPIAAGVFLPIGLVLQPWMGSAAMAASSVSVVLSSLFLKLYRKPTYDNYELHPRSHTGQRSPSEISVHVGIDDTSRNSPRLGLLDRIVNYSRASINSLLSDKRSLNSVVTSEPDKHSLLVGDFREDDDTTL
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Atp7a are associated with mottled, an X-linked recessive condition characterized by mottled pigmentation of the coat, defects in connective tissue and neonatal or fetal death. It is due to a defect in absorption and transport of copper. The mottled mutants exhibit a diversity of phenotypes. Two of these mutants are called brindled and blotchy and their phenotypes resemble classical Menkes disease (MD) and occipital horn syndrome (OHS) in humans, respectively. Other mutants are called dappled, mosaic, tortoiseshell, pewter, etc. {ECO:0000269|PubMed:8054976, ECO:0000269|PubMed:8054977, ECO:0000269|PubMed:9215672, ECO:0000269|PubMed:9385451}.
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:18650808, PubMed:25639447, PubMed:27337370). 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 (By similarity). 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:12488345, PubMed:16371425, PubMed:18650808, PubMed:27337370). Upon elevated cytosolic copper concentrations, it relocalizes to the plasma membrane where it is responsible for the export of excess Cu(+) ions (By similarity). 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 (PubMed:12488345, PubMed:15634787, PubMed:16371425, PubMed:25639447). In the melanosomes of pigmented cells, provides copper cofactor to TYR to form an active TYR holoenzyme for melanin biosynthesis (PubMed:18650808). {ECO:0000250|UniProtKB:Q04656}.
uniprot
proteins
mass_dalton
161959
uniprot
proteins
mutagenesis
MUTAGEN 1443..1444; /note="LL->AA: Impaired trafficking from endosome to TGN."; /evidence="ECO:0000269|PubMed:27337370"; MUTAGEN 1443..1444; /note="LL->VV: Has no effect on trafficking from endosome to TGN."; /evidence="ECO:0000269|PubMed:27337370"; MUTAGEN 1458..1459; /note="LL->AA,VV: Impaired trafficking from endosome to TGN."; /evidence="ECO:0000269|PubMed:27337370"; MUTAGEN 1478..1479; /note="LL->AA,VV: Impaired endocytosis associated with retention at the plasma membrane."; /evidence="ECO:0000269|PubMed:27337370
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type IB subfamily
uniprot
proteins
pubmed
12488345
uniprot
proteins
pubmed
15634787
uniprot
proteins
pubmed
16371425
uniprot
proteins
pubmed
18650808
uniprot
proteins
pubmed
19144319
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
25639447
uniprot
proteins
pubmed
27337370
uniprot
proteins
pubmed
8054976
uniprot
proteins
pubmed
8054977
uniprot
proteins
pubmed
9215672
uniprot
proteins
pubmed
9385451
uniprot
proteins
sequence_length
1491
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:16371425, ECO:0000269|PubMed:18650808, ECO:0000269|PubMed:27337370}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:27337370}; Multi-pass membrane protein {ECO:0000255}. Melanosome membrane {ECO:0000269|PubMed:18650808}; Multi-pass membrane protein {ECO:0000255}. Early endosome membrane {ECO:0000269|PubMed:27337370}; 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. Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels (PubMed:27337370). Targeting into melanosomes is regulated by BLOC-1 complex (PubMed:18650808). In response to glutamate translocates to neuron processes with a minor fraction at extrasynaptic sites (By similarity). {ECO:0000250|UniProtKB:P70705, ECO:0000269|PubMed:18650808, ECO:0000269|PubMed:27337370}.
uniprot
proteins
transmembrane_region
TRANSMEM 645..666; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 706..725; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 733..753; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 773..793; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 927..950; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 981..1002; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1348..1365; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1377..1396; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins