ATP1A3
entrez
478
canonical
uniprot
P13637
canonical
ensembl
ENSG00000105409
resolver
ensp
ENSP00000437577
resolver
ensp
ENSP00000444688
resolver
ensp
ENSP00000471581
resolver
ensp
ENSP00000498113
resolver
enst
ENST00000602133
resolver
genesymbol
ATP1A3
resolver
hgnc
HGNC:801
resolver
uniprot
B7Z2T0
resolver
uniprot
B7Z401
resolver
uniprot
F5H6J6
resolver
uniprot
M0R116
resolver
uniprot
Q16732
resolver
uniprot
Q16735
resolver
uniprot
Q53ES0
resolver
uniprot
Q969K5
resolver
uniprot_entry
AT1A3_HUMAN
resolver
uniprot_entry
M0R116_HUMAN
resolver
uniprot_entry
Q53ES0_HUMAN
resolver
uniprot_sec
B7Z2T0
resolver
uniprot_sec
B7Z401
resolver
uniprot_sec
F5H6J6
resolver
uniprot_sec
Q16732
resolver
uniprot_sec
Q16735
resolver
uniprot_sec
Q969K5
resolver
amino_acid_sequence
MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQEILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNLYLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDLVEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCVEGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILSLILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNRAVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQLSIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGERVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDLKDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLISMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQRKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY
uniprot
proteins
disease_involvement
DISEASE: Dystonia 12 (DYT12) [MIM:128235]: An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability. {ECO:0000269|PubMed:15260953, ECO:0000269|PubMed:19351654, ECO:0000269|PubMed:19652145}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. {ECO:0000269|PubMed:22842232, ECO:0000269|PubMed:22850527, ECO:0000269|PubMed:23409136, ECO:0000269|PubMed:24631656, ECO:0000269|PubMed:26993267}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) [MIM:601338]: An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies. {ECO:0000269|PubMed:24468074}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 99 (DEE99) [MIM:619606]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE99 is an autosomal dominant form characterized by onset of seizures in early childhood. {ECO:0000269|PubMed:33880529}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.2.2.13
uniprot
proteins
function
FUNCTION: Neuron-specific alpha catalytic component of the Na(+)/K(+)-transporting ATPase, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane (PubMed:36075933). Transports 3 Na(+) ions out of the cell and 2 K(+) ions into the cell for each ATP hydrolyze against their electrochemical gradients to maintain ion concentration gradients across the membranes (By similarity). In the brain, ATP1A3 is critical for neuronal cell signaling and for maintenance of electrochemical stability, enabling cell excitation and action potential propagation (PubMed:33880529, PubMed:36075933). {ECO:0000250|UniProtKB:P05023, ECO:0000269|PubMed:33880529, ECO:0000269|PubMed:36075933}.
uniprot
proteins
mass_dalton
111749
uniprot
proteins
mutagenesis
MUTAGEN 90; /note="F->A: Slow the rates of Na(+)-dependent phosphorylation. Reduces ATP hydrolysis. Decreases affinity for K(+)."; /evidence="ECO:0000269|PubMed:36075933"; MUTAGEN 93; /note="L->A: Slow the rates of Na(+)-dependent phosphorylation. Reduces ATP hydrolysis. Decreases affinity for K(+)."; /evidence="ECO:0000269|PubMed:36075933"; MUTAGEN 319; /note="V->A: Increases ATP hydrolysis. Does not affect affinity for K(+). Decreases affinity for Na(+)."; /evidence="ECO:0000269|PubMed:36075933"; MUTAGEN 324; /note="E->A: Decreases sodium/potassium-exchanging ATPase activity; when associated with A-776; A-801 and A-805. Reduces phosphorylation activity and ATP turnover rate; when associated with A-776; A-801 and A-805."; /evidence="ECO:0000269|PubMed:36075933"; MUTAGEN 776; /note="E->A: Decreases sodium/potassium-exchanging ATPase activity; when associated with A-324; A-801 and A-805. Reduces phosphorylation activity and ATP turnover rate; when associated with A-324; A-801 and A-805."; /evidence="ECO:0000269|PubMed:36075933"; MUTAGEN 801; /note="D->A: Decreases sodium/potassium-exchanging ATPase activity; when associated with A-324; A-776 and A-805. Reduces phosphorylation activity and ATP turnover rate; when associated with A-324; A-776 and A-805."; /evidence="ECO:0000269|PubMed:36075933"; MUTAGEN 805; /note="D->A: Decreases sodium/potassium-exchanging ATPase activity; when associated with A-324; A-776 and A-801. Reduces phosphorylation activity and ATP turnover rate; when associated with A-324; A-776 and A-801."; /evidence="ECO:0000269|PubMed:36075933
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type IIC subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15260953
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19351654
uniprot
proteins
pubmed
19652145
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22842232
uniprot
proteins
pubmed
22850527
uniprot
proteins
pubmed
23409136
uniprot
proteins
pubmed
24468074
uniprot
proteins
pubmed
24631656
uniprot
proteins
pubmed
26993267
uniprot
proteins
pubmed
2834163
uniprot
proteins
pubmed
2838329
uniprot
proteins
pubmed
3030810
uniprot
proteins
pubmed
3036582
uniprot
proteins
pubmed
33880529
uniprot
proteins
pubmed
36075933
uniprot
proteins
pubmed
7711835
uniprot
proteins
sequence_length
1013
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:36075933, ECO:0000269|PubMed:7711835}; Multi-pass membrane protein {ECO:0000269|PubMed:36075933, ECO:0000269|PubMed:7711835}.
uniprot
proteins
transmembrane_region
TRANSMEM 91..107; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 119..139; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 282..303; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 307..345; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 767..786; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 794..809; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 840..862; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 905..927; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 943..966; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 975..995; /note="Helical; Name=10"; /evidence="ECO:0000255
uniprot
proteins