##gff-version 3 P13637 UniProtKB Chain 1 1013 . . . ID=PRO_0000046298;Note=Sodium/potassium-transporting ATPase subunit alpha-3 P13637 UniProtKB Topological domain 1 77 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Transmembrane 78 98 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Topological domain 99 121 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Transmembrane 122 142 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Topological domain 143 278 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Transmembrane 279 298 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Topological domain 299 310 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Transmembrane 311 328 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Topological domain 329 762 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Transmembrane 763 782 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Topological domain 783 792 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Transmembrane 793 813 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Topological domain 814 833 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Transmembrane 834 856 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Topological domain 857 908 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Transmembrane 909 928 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Topological domain 929 941 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Transmembrane 942 960 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Topological domain 961 975 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Transmembrane 976 996 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Topological domain 997 1013 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P13637 UniProtKB Region 1 24 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P13637 UniProtKB Region 72 74 . . . Note=Interaction with phosphoinositide-3 kinase;Ontology_term=ECO:0000250;evidence=ECO:0000250 P13637 UniProtKB Active site 366 366 . . . Note=4-aspartylphosphate intermediate;Ontology_term=ECO:0000250;evidence=ECO:0000250 P13637 UniProtKB Binding site 707 707 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P13637 UniProtKB Binding site 711 711 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P13637 UniProtKB Modified residue 37 37 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06687 P13637 UniProtKB Modified residue 56 56 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6PIC6 P13637 UniProtKB Modified residue 218 218 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6PIC6 P13637 UniProtKB Modified residue 265 265 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6PIC6 P13637 UniProtKB Modified residue 442 442 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06687 P13637 UniProtKB Modified residue 548 548 . . . Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6PIC6 P13637 UniProtKB Modified residue 933 933 . . . Note=Phosphoserine%3B by PKA;Ontology_term=ECO:0000250;evidence=ECO:0000250 P13637 UniProtKB Alternative sequence 1 2 . . . ID=VSP_046956;Note=In isoform 2. MG->MGGWEEERNRRAT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P13637 UniProtKB Alternative sequence 1 2 . . . ID=VSP_046957;Note=In isoform 3. MG->MGSGGSDSYRIATSQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P13637 UniProtKB Natural variant 137 137 . . . ID=VAR_068935;Note=In AHC2. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22842232;Dbxref=dbSNP:rs542652468,PMID:22842232 P13637 UniProtKB Natural variant 137 137 . . . ID=VAR_068936;Note=In AHC2%3B strong decrease in ATPase activity. S->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22842232,ECO:0000269|PubMed:24631656;Dbxref=dbSNP:rs542652468,PMID:22842232,PMID:24631656 P13637 UniProtKB Natural variant 140 140 . . . ID=VAR_068937;Note=In AHC2. Q->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22842232;Dbxref=dbSNP:rs606231427,PMID:22842232 P13637 UniProtKB Natural variant 220 220 . . . ID=VAR_068938;Note=In AHC2%3B no effect on ATPase activity. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22842232,ECO:0000269|PubMed:24631656;Dbxref=dbSNP:rs1396898460,PMID:22842232,PMID:24631656 P13637 UniProtKB Natural variant 274 274 . . . ID=VAR_068939;Note=In AHC2%3B strong decrease in ATPase activity. I->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22842232,ECO:0000269|PubMed:22850527,ECO:0000269|PubMed:24631656;Dbxref=dbSNP:rs80356532,PMID:22842232,PMID:22850527,PMID:24631656 P13637 UniProtKB Natural variant 274 274 . . . ID=VAR_026735;Note=In DYT12. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15260953;Dbxref=dbSNP:rs80356532,PMID:15260953 P13637 UniProtKB Natural variant 277 277 . . . ID=VAR_026736;Note=In DYT12. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15260953;Dbxref=dbSNP:rs80356533,PMID:15260953 P13637 UniProtKB Natural variant 292 292 . . . ID=VAR_086446;Note=In DEE99%3B decreased affinity for sodium ions%3B decreased affinity for potassium ions. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33880529;Dbxref=PMID:33880529 P13637 UniProtKB Natural variant 316 316 . . . ID=VAR_086447;Note=In DEE99%3B decreased affinity for sodium ions%3B decreased affinity for potassium ions. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33880529;Dbxref=PMID:33880529 P13637 UniProtKB Natural variant 320 320 . . . ID=VAR_078699;Note=Found in a patient with tonic-clonic seizures and profound developmental delay with paroxysmal movement disorder%3B likely pathogenic. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs879255368,PMID:26993267 P13637 UniProtKB Natural variant 322 322 . . . ID=VAR_070767;Note=In AHC2. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22850527;Dbxref=dbSNP:rs606231428,PMID:22850527 P13637 UniProtKB Natural variant 333 333 . . . ID=VAR_068940;Note=In AHC2%3B decreased ATPase activity. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22842232;Dbxref=dbSNP:rs606231430,PMID:22842232 P13637 UniProtKB Natural variant 361 361 . . . ID=VAR_086448;Note=In DEE99. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33880529;Dbxref=PMID:33880529 P13637 UniProtKB Natural variant 371 371 . . . ID=VAR_070768;Note=In AHC2. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22850527;Dbxref=dbSNP:rs606231433,PMID:22850527 P13637 UniProtKB Natural variant 609 609 . . . ID=VAR_086449;Note=In DEE99. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33880529;Dbxref=PMID:33880529 P13637 UniProtKB Natural variant 613 613 . . . ID=VAR_026737;Note=In DYT12. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15260953;Dbxref=dbSNP:rs80356534,PMID:15260953 P13637 UniProtKB Natural variant 755 755 . . . ID=VAR_070769;Note=In AHC2. G->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22850527,ECO:0000269|PubMed:23409136;Dbxref=dbSNP:rs557052809,PMID:22850527,PMID:23409136 P13637 UniProtKB Natural variant 755 755 . . . ID=VAR_068941;Note=In AHC2. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22842232;Dbxref=dbSNP:rs557052809,PMID:22842232 P13637 UniProtKB Natural variant 758 758 . . . ID=VAR_026738;Note=In DYT12. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15260953;Dbxref=dbSNP:rs80356535,PMID:15260953 P13637 UniProtKB Natural variant 764 764 . . . ID=VAR_086450;Note=In DEE99. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33880529;Dbxref=PMID:33880529 P13637 UniProtKB Natural variant 772 772 . . . ID=VAR_070770;Note=In AHC2. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22850527;Dbxref=dbSNP:rs534926223,PMID:22850527 P13637 UniProtKB Natural variant 773 773 . . . ID=VAR_070771;Note=In AHC2. N->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22850527;Dbxref=dbSNP:rs606231437,PMID:22850527 P13637 UniProtKB Natural variant 773 773 . . . ID=VAR_068942;Note=In AHC2. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22842232;Dbxref=dbSNP:rs606231437,PMID:22842232 P13637 UniProtKB Natural variant 775 775 . . . ID=VAR_086451;Note=In DEE99. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33880529;Dbxref=PMID:33880529 P13637 UniProtKB Natural variant 780 780 . . . ID=VAR_026739;Note=In DYT12. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15260953;Dbxref=dbSNP:rs80356536,PMID:15260953 P13637 UniProtKB Natural variant 801 801 . . . ID=VAR_068943;Note=In AHC2 and DEE99%3B strong decrease in ATPase activity. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22842232,ECO:0000269|PubMed:22850527,ECO:0000269|PubMed:23409136,ECO:0000269|PubMed:24631656,ECO:0000269|PubMed:33880529;Dbxref=dbSNP:rs80356537,PMID:22842232,PMID:22850527,PMID:23409136,PMID:24631656,PMID:33880529 P13637 UniProtKB Natural variant 801 801 . . . ID=VAR_026740;Note=In DYT12. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15260953;Dbxref=dbSNP:rs80356537,PMID:15260953 P13637 UniProtKB Natural variant 806 806 . . . ID=VAR_068944;Note=In AHC2. M->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22842232;Dbxref=dbSNP:rs549006436,PMID:22842232 P13637 UniProtKB Natural variant 810 810 . . . ID=VAR_068945;Note=In AHC2. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22842232;Dbxref=dbSNP:rs536681257,PMID:22842232 P13637 UniProtKB Natural variant 811 811 . . . ID=VAR_068946;Note=In AHC2%3B decreased ATPase activity. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22842232;Dbxref=dbSNP:rs387907282,PMID:22842232 P13637 UniProtKB Natural variant 815 815 . . . ID=VAR_068947;Note=In AHC2%3B strong decrease in ATPase activity. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22842232,ECO:0000269|PubMed:22850527,ECO:0000269|PubMed:23409136,ECO:0000269|PubMed:24631656;Dbxref=dbSNP:rs387907281,PMID:22842232,PMID:22850527,PMID:23409136,PMID:24631656 P13637 UniProtKB Natural variant 818 818 . . . ID=VAR_070772;Note=In CAPOS. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24468074;Dbxref=dbSNP:rs587777771,PMID:24468074 P13637 UniProtKB Natural variant 857 857 . . . ID=VAR_086452;Note=In DEE99. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33880529;Dbxref=PMID:33880529 P13637 UniProtKB Natural variant 887 887 . . . ID=VAR_086453;Note=In DEE99%3B decreased sodium/potassium-exchanging ATPase activity. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33880529;Dbxref=PMID:33880529 P13637 UniProtKB Natural variant 888 888 . . . ID=VAR_086454;Note=In DEE99. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33880529;Dbxref=PMID:33880529 P13637 UniProtKB Natural variant 893 893 . . . ID=VAR_086455;Note=In DEE99. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33880529;Dbxref=PMID:33880529 P13637 UniProtKB Natural variant 919 919 . . . ID=VAR_068948;Note=In AHC2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22842232;Dbxref=dbSNP:rs606231443,PMID:22842232 P13637 UniProtKB Natural variant 923 923 . . . ID=VAR_068949;Note=In DYT12. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19652145;Dbxref=dbSNP:rs267606670,PMID:19652145 P13637 UniProtKB Natural variant 923 923 . . . ID=VAR_070773;Note=In AHC2. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22850527;Dbxref=dbSNP:rs267606670,PMID:22850527 P13637 UniProtKB Natural variant 924 924 . . . ID=VAR_086456;Note=In DEE99. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33880529;Dbxref=dbSNP:rs1555859157,PMID:33880529 P13637 UniProtKB Natural variant 927 927 . . . ID=VAR_070774;Note=In AHC2. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23409136;Dbxref=dbSNP:rs606231444,PMID:23409136 P13637 UniProtKB Natural variant 947 947 . . . ID=VAR_068950;Note=In AHC2%3B strong decrease in ATPase activity. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22842232,ECO:0000269|PubMed:24631656,ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs398122887,PMID:22842232,PMID:24631656,PMID:26993267 P13637 UniProtKB Natural variant 955 955 . . . ID=VAR_068951;Note=In AHC2. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22842232;Dbxref=dbSNP:rs606231446,PMID:22842232 P13637 UniProtKB Natural variant 972 972 . . . ID=VAR_086457;Note=In DEE99%3B decreased sodium/potassium-exchanging ATPase activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33880529;Dbxref=PMID:33880529 P13637 UniProtKB Natural variant 992 992 . . . ID=VAR_068952;Note=In AHC2. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22842232;Dbxref=dbSNP:rs606231447,PMID:22842232 P13637 UniProtKB Natural variant 1013 1013 . . . ID=VAR_068953;Note=In DYT12%3B there is a drastic 40- to 50-fold reduction in Na(+) affinity in the mutant protein. Y->YY;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19351654;Dbxref=PMID:19351654 P13637 UniProtKB Sequence conflict 1 2 . . . Note=MG->MEIH;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13637 UniProtKB Sequence conflict 144 144 . . . Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13637 UniProtKB Sequence conflict 336 336 . . . Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13637 UniProtKB Sequence conflict 380 380 . . . Note=H->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13637 UniProtKB Sequence conflict 421 421 . . . Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13637 UniProtKB Sequence conflict 430 430 . . . Note=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13637 UniProtKB Sequence conflict 555 557 . . . Note=FPK->YPQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13637 UniProtKB Sequence conflict 577 577 . . . Note=G->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13637 UniProtKB Sequence conflict 583 583 . . . Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13637 UniProtKB Sequence conflict 919 919 . . . Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13637 UniProtKB Sequence conflict 944 944 . . . Note=L->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13637 UniProtKB Sequence conflict 982 982 . . . Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13637 UniProtKB Sequence conflict 1006 1006 . . . Note=W->S;Ontology_term=ECO:0000305;evidence=ECO:0000305