ATP1A2
entrez
477
canonical
uniprot
P50993
canonical
ensembl
ENSG00000018625
resolver
ensp
ENSP00000354490
resolver
enst
ENST00000361216
resolver
genesymbol
ATP1A2
resolver
genesymbol_syn
KIAA0778
resolver
hgnc
HGNC:800
resolver
uniprot
A0A0S2Z3W6
resolver
uniprot
B4DIQ8
resolver
uniprot
D3DVE4
resolver
uniprot
Q07059
resolver
uniprot
Q5JW74
resolver
uniprot
Q86UZ5
resolver
uniprot
Q9UQ25
resolver
uniprot_entry
A0A0S2Z3W6_HUMAN
resolver
uniprot_entry
AT1A2_HUMAN
resolver
uniprot_entry
B4DIQ8_HUMAN
resolver
uniprot_sec
D3DVE4
resolver
uniprot_sec
Q07059
resolver
uniprot_sec
Q5JW74
resolver
uniprot_sec
Q86UZ5
resolver
uniprot_sec
Q9UQ25
resolver
amino_acid_sequence
MGRGAGREYSPAATTAENGGGKKKQKEKELDELKKEVAMDDHKLSLDELGRKYQVDLSKGLTNQRAQDVLARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAAMEDEPSNDNLYLGVVLAAVVIVTGCFSYYQEAKSSKIMDSFKNMVPQQALVIREGEKMQINAEEVVVGDLVEVKGGDRVPADLRIISSHGCKVDNSSLTGESEPQTRSPEFTHENPLETRNICFFSTNCVEGTARGIVIATGDRTVMGRIATLASGLEVGRTPIAMEIEHFIQLITGVAVFLGVSFFVLSLILGYSWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGATFDKRSPTWTALSRIAGLCNRAVFKAGQENISVSKRDTAGDASESALLKCIELSCGSVRKMRDRNPKVAEIPFNSTNKYQLSIHEREDSPQSHVLVMKGAPERILDRCSTILVQGKEIPLDKEMQDAFQNAYMELGGLGERVLGFCQLNLPSGKFPRGFKFDTDELNFPTEKLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPMSQVNPREAKACVVHGSDLKDMTSEQLDEILKNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGIAMGISGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLLFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEAAESDIMKRQPRNSQTDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPSRLLGIRLDWDDRTMNDLEDSYGQEWTYEQRKVVEFTCHTAFFASIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLLEETALAAFLSYCPGMGVALRMYPLKVTWWFCAFPYSLLIFIYDEVRKLILRRYPGGWVEKETYY
uniprot
proteins
disease_involvement
DISEASE: Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]: A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO:0000269|PubMed:12539047, ECO:0000269|PubMed:12953268, ECO:0000269|PubMed:21352219, ECO:0000269|PubMed:23838748, ECO:0000269|PubMed:23918834}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Alternating hemiplegia of childhood 1 (AHC1) [MIM:104290]: 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:15174025}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies (FARIMPD) [MIM:619602]: An autosomal recessive disease characterized by fetal akinesia, and generalized joint contractures and arthrogryposis at birth. Affected newborns have severe respiratory insufficiency and significant dysmorphic facial features. Malformations of cortical development are seen on brain imaging, most commonly polymicrogyria or other gyral anomalies. Death usually occurs in infancy. {ECO:0000269|PubMed:30690204, ECO:0000269|PubMed:31608932}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 98 (DEE98) [MIM:619605]: 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. DEE98 is an autosomal dominant form characterized by onset of seizures in the first decade. {ECO:0000269|PubMed:27864847, 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: Catalytic subunit of the Na(+)/K(+)-ATPase that hydrolyzes ATP to exchange ions across the plasma membrane, exporting 3 Na(+) and importing 2 K(+) per cycle (PubMed:33880529). It undergoes ATP-driven conformational changes that allow alternating binding and release of Na(+) and K(+) ions across the membrane (By similarity). This process maintains essential Na(+) and K(+) gradients for membrane potential and cellular function (PubMed:33880529). {ECO:0000250|UniProtKB:P05023, ECO:0000269|PubMed:33880529}.
uniprot
proteins
mass_dalton
112265
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type IIC subfamily
uniprot
proteins
pubmed
12539047
uniprot
proteins
pubmed
12953268
uniprot
proteins
pubmed
15174025
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21352219
uniprot
proteins
pubmed
23838748
uniprot
proteins
pubmed
23918834
uniprot
proteins
pubmed
2477373
uniprot
proteins
pubmed
2537767
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
3035563
uniprot
proteins
pubmed
3036582
uniprot
proteins
pubmed
30690204
uniprot
proteins
pubmed
31608932
uniprot
proteins
pubmed
33880529
uniprot
proteins
pubmed
7711835
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
1020
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:7711835}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:7711835}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 86..106; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 130..150; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 287..306; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 319..336; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 770..789; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 800..820; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 841..863; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 916..935; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 949..967; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 983..1003; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins