Q64535
uniprot
Q64535
canonical
amino_acid_sequence
MPEQERKVTAKEASRKILSKLALPTRPWGQSMKQSFAFDNVGYEGGLDSTCFILQLTTGVVSILGMTCHSCVKSIEDRISSLKGIVSIKVSLEQGSATVKYVPSVLNLQQICLQIEDMGFEASAAEGKAASWPSRSSPAQEAVVKLRVEGMTCQSCVSSIEGKIRKLQGVVRVKVSLSNQEAVITYQPYLIQPEDLRDHICDMGFEAAIKNRTAPLRLGPIDINKLESTNLKRAAVPPIQNSNHLETPGHQQNHLATLPLRIDGMHCKSCVLNIEGNIGQLPGVQNIHVSLENKTAQVQYDSSCITPLFLQTAIEALPPGYFKVSLPDGLEKESGSSSVPSLGSSQRQQEPGPCRTAVLTITGIPRDSSVQPMEDMLSQMKGVQQIDISLAEGTGAVLYDPSVVSSDELRTAVEDMGFEVSVNPENITTNRVSSGNSVPQAVGDSPGSVQNMASDTRGLLTHQGPGYLSDSPPSPGGTASQKCFVQIKGMTCASCVSNIERSLQRHAGILSVLVALMSGKAEVKYDPEVIQSPRIAQLIEDLGFEAAIMEDNTVSEGDIELIITGMTCASCVHNIESKLTRTNGITYASVALATSKAHVKFDPEIIGPRDIIKVIEEIGFHASLAHRNPNAHHLDHKTEIKQWKKSFLCSLVFGIPVMGLMIYMLIPSSKPHETMVLDHNIIPGLSVLNLIFFILCTFVQFLGGWYFYVQAYKSLRHKSANMDVLIVLATTIAYAYSLVILVVAIAEKAEKSPVTFFDTPPMLFVFIALGRWLEHVAKSKTSEALAKLMSLQATEATVVTLGEDNLILREEQVPMELVQRGDIIKVVPGGKFPVDGKVLEGNTMADESLITGEAMPVTKKPGSIVIAGSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMSKAPIQQLADRFSGYFVPFIIIISTLTLVVWIIIGFVDFGIVQKYFPSPSKHISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGVLIKGGKPLEMAHKIKTVMFDKTGTITHGVPRVMRFLLLVDVATLSLRKVLAVVGTAEASSEHPLGVAVTKYCKEELGTETLGYSTDFQAVPGCGISCKVSNVESILAHRGPTAHPIGVGNPPIGEGTGPQTFSVLIGNREWMRRNGLTISSDISDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKPEAALASITLKSMGVDVALITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGKKVAMVGDGVNDSPALAQADVGIAIGTGTDVAIDAADVVLIRNDLLDVVASIHLSKRTVRRIRVNLVLALIYNMVGIPIAAGVFMPIGIVLQPWMGSAAASSVSVVLSSLQLKCYRKPDLERYEAQAHGRMKPLSASQVSVHVGMDDRRRDSPRATPWDQVSYVSQVSLSSLTSDRLSRHGGMAEDGGDKWSLLLSDRDEEQCI
uniprot
proteins
disease_involvement
DISEASE: Note=Deficiency of Atp7b expression is the cause of the Long-Evans Cinnamon (LEC) phenotype, inherited in an autosomal recessive manner, characterized by excessive hepatic copper accumulation, defective holoceruloplasmin biosynthesis, impaired biliary copper excretion and the development of necrotizing hepatitis by 4 months of age. {ECO:0000269|PubMed:7951327, ECO:0000269|PubMed:8037655}.
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, such as the efflux of hepatic copper into the bile. {ECO:0000250|UniProtKB:P35670}.
uniprot
proteins
mass_dalton
155990
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type IB subfamily
uniprot
proteins
pubmed
22673903
uniprot
proteins
pubmed
7951327
uniprot
proteins
pubmed
8037655
uniprot
proteins
pubmed
9920665
uniprot
proteins
sequence_length
1451
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000250|UniProtKB:P35670}; Multi-pass membrane protein {ECO:0000255}. Late endosome {ECO:0000250|UniProtKB:P35670}. Note=Predominantly found in the trans-Golgi network (TGN). Not redistributed to the plasma membrane in response to elevated copper levels. {ECO:0000250|UniProtKB:P35670}.
uniprot
proteins
transmembrane_region
TRANSMEM 647..668; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 691..710; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 718..738; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 758..778; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 913..935; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 966..987; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1311..1328; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1340..1357; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins