Gene name: ATP7A

Uniprot entry:

Q04656

Protein names:

Copper-transporting ATPase 1 (EC 7.2.2.8) (Copper pump 1) (Menkes disease-associated protein)

Protein sequence:

1_MDPSM 6_ GVNSV 11_ TISVE 16_ GMTCN 21_ SCVWT 26_ IEQQI 31_ GKVNG 36_ VHHIK 41_ VSLEE 46_ KNATI 51_ IYDPK 56_ LQTPK 61_ TLQEA 66_ IDDMG 71_ FDAVI 76_ HNPDP 81_ LPVLT 86_ DTLFL 91_ TVTAS 96_ LTLPW 101_ DHIQS 106_ TLLKT 111_ KGVTD 116_ IKIYP 121_ QKRTV 126_ AVTII 131_ PSIVN 136_ ANQIK 141_ ELVPE 146_ LSLDT 151_ GTLEK 156_ KSGAC 161_ EDHSM 166_ AQAGE 171_ VVLKM 176_ KVEGM 181_ TCHSC 186_ TSTIE 191_ GKIGK 196_ LQGVQ 201_ RIKVS 206_ LDNQE 211_ ATIVY 216_ QPHLI 221_ SVEEM 226_ KKQIE 231_ AMGFP 236_ AFVKK 241_ QPKYL 246_ KLGAI 251_ DVERL 256_ KNTPV 261_ KSSEG 266_ SQQRS 271_ PSYTN 276_ DSTAT 281_ FIIDG 286_ MHCKS 291_ CVSNI 296_ ESTLS 301_ ALQYV 306_ SSIVV 311_ SLENR 316_ SAIVK 321_ YNASS 326_ VTPES 331_ LRKAI 336_ EAVSP 341_ GLYRV 346_ SITSE 351_ VESTS 356_ NSPSS 361_ SSLQK 366_ IPLNV 371_ VSQPL 376_ TQETV 381_ INIDG 386_ MTCNS 391_ CVQSI 396_ EGVIS 401_ KKPGV 406_ KSIRV 411_ SLANS 416_ NGTVE 421_ YDPLL 426_ TSPET 431_ LRGAI 436_ EDMGF 441_ DATLS 446_ DTNEP 451_ LVVIA 456_ QPSSE 461_ MPLLT 466_ STNEF 471_ YTKGM 476_ TPVQD 481_ KEEGK 486_ NSSKC 491_ YIQVT 496_ GMTCA 501_ SCVAN 506_ IERNL 511_ RREEG 516_ IYSIL 521_ VALMA 526_ GKAEV 531_ RYNPA 536_ VIQPP 541_ MIAEF 546_ IRELG 551_ FGATV 556_ IENAD 561_ EGDGV 566_ LELVV 571_ RGMTC 576_ ASCVH 581_ KIESS 586_ LTKHR 591_ GILYC 596_ SVALA 601_ TNKAH 606_ IKYDP 611_ EIIGP 616_ RDIIH 621_ TIESL 626_ GFEAS 631_ LVKKD 636_ RSASH 641_ LDHKR 646_ EIRQW 651_ RRSFL 656_ VSLFF 661_ CIPVM 666_ GLMIY 671_ MMVMD 676_ HHFAT 681_ LHHNQ 686_ NMSKE 691_ EMINL 696_ HSSMF 701_ LERQI 706_ LPGLS 711_ VMNLL 716_ SFLLC 721_ VPVQF 726_ FGGWY 731_ FYIQA 736_ YKALK 741_ HKTAN 746_ MDVLI 751_ VLATT 756_ IAFAY 761_ SLIIL 766_ LVAMY 771_ ERAKV 776_ NPITF 781_ FDTPP 786_ MLFVF 791_ IALGR 796_ WLEHI 801_ AKGKT 806_ SEALA 811_ KLISL 816_ QATEA 821_ TIVTL 826_ DSDNI 831_ LLSEE 836_ QVDVE 841_ LVQRG 846_ DIIKV 851_ VPGGK 856_ FPVDG 861_ RVIEG 866_ HSMVD 871_ ESLIT 876_ GEAMP 881_ VAKKP 886_ GSTVI 891_ AGSIN 896_ QNGSL 901_ LICAT 906_ HVGAD 911_ TTLSQ 916_ IVKLV 921_ EEAQT 926_ SKAPI 931_ QQFAD 936_ KLSGY 941_ FVPFI 946_ VFVSI 951_ ATLLV 956_ WIVIG 961_ FLNFE 966_ IVETY 971_ FPGYN 976_ RSISR 981_ TETII 986_ RFAFQ 991_ ASITV 996_ LCIAC 1001_ PCSLG 1006_ LATPT 1011_ AVMVG 1016_ TGVGA 1021_ QNGIL 1026_ IKGGE 1031_ PLEMA 1036_ HKVKV 1041_ VVFDK 1046_ TGTIT 1051_ HGTPV 1056_ VNQVK 1061_ VLTES 1066_ NRISH 1071_ HKILA 1076_ IVGTA 1081_ ESNSE 1086_ HPLGT 1091_ AITKY 1096_ CKQEL 1101_ DTETL 1106_ GTCID 1111_ FQVVP 1116_ GCGIS 1121_ CKVTN 1126_ IEGLL 1131_ HKNNW 1136_ NIEDN 1141_ NIKNA 1146_ SLVQI 1151_ DASNE 1156_ QSSTS 1161_ SSMII 1166_ DAQIS 1171_ NALNA 1176_ QQYKV 1181_ LIGNR 1186_ EWMIR 1191_ NGLVI 1196_ NNDVN 1201_ DFMTE 1206_ HERKG 1211_ RTAVL 1216_ VAVDD 1221_ ELCGL 1226_ IAIAD 1231_ TVKPE 1236_ AELAI 1241_ HILKS 1246_ MGLEV 1251_ VLMTG 1256_ DNSKT 1261_ ARSIA 1266_ SQVGI 1271_ TKVFA 1276_ EVLPS 1281_ HKVAK 1286_ VKQLQ 1291_ EEGKR 1296_ VAMVG 1301_ DGIND 1306_ SPALA 1311_ MANVG 1316_ IAIGT 1321_ GTDVA 1326_ IEAAD 1331_ VVLIR 1336_ NDLLD 1341_ VVASI 1346_ DLSRK 1351_ TVKRI 1356_ RINFV 1361_ FALIY 1366_ NLVGI 1371_ PIAAG 1376_ VFMPI 1381_ GLVLQ 1386_ PWMGS 1391_ AAMAA 1396_ SSVSV 1401_ VLSSL 1406_ FLKLY 1411_ RKPTY 1416_ ESYEL 1421_ PARSQ 1426_ IGQKS 1431_ PSEIS 1436_ VHVGI 1441_ DDTSR 1446_ NSPKL 1451_ GLLDR 1456_ IVNYS 1461_ RASIN 1466_ SLLSD 1471_ KRSLN 1476_ SVVTS 1481_ EPDKH 1486_ SLLVG 1491_DFRED

Protein annotations

Protein functions:

1: 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)