ATP1A1
entrez
476
canonical
uniprot
P05023
canonical
ensembl
ENSG00000163399
resolver
ensp
ENSP00000295598
resolver
ensp
ENSP00000358508
resolver
ensp
ENSP00000445306
resolver
genesymbol
ATP1A1
resolver
hgnc
HGNC:799
resolver
uniprot
B2RBR6
resolver
uniprot
B7Z2T5
resolver
uniprot
B7Z3U6
resolver
uniprot
F5H3A1
resolver
uniprot
Q16689
resolver
uniprot
Q6LDM4
resolver
uniprot
Q9UCN1
resolver
uniprot
Q9UJ20
resolver
uniprot
Q9UJ21
resolver
uniprot_entry
AT1A1_HUMAN
resolver
uniprot_sec
B2RBR6
resolver
uniprot_sec
B7Z2T5
resolver
uniprot_sec
B7Z3U6
resolver
uniprot_sec
F5H3A1
resolver
uniprot_sec
Q16689
resolver
uniprot_sec
Q6LDM4
resolver
uniprot_sec
Q9UCN1
resolver
uniprot_sec
Q9UJ20
resolver
uniprot_sec
Q9UJ21
resolver
amino_acid_sequence
MGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSINAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETRNIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAAEIEHFIHIITGVAVFLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWLALSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIELCCGSVKEMRERYAKIVEIPFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDRCSSILLHGKEQPLDEELKDAFQNAYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVVHGSDLKDMTSEQLDDILKYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPKTDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVEDSYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMGVALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKETYY
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, axonal, type 2DD (CMT2DD) [MIM:618036]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269|PubMed:29499166}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hypomagnesemia, seizures, and impaired intellectual development 2 (HOMGSMR2) [MIM:618314]: An autosomal dominant disease characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant intellectual disability. {ECO:0000269|PubMed:30388404}. 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 pump that hydrolyzes ATP to exchange ions across the plasma membrane, exporting 3 Na(+) and importing 2 K(+) per cycle against electrochemical gradients (PubMed:29499166, PubMed:30388404, PubMed:35803952). It undergoes ATP-driven conformational changes that allow alternating binding and release of Na(+) and K(+) ions across the membrane (PubMed:35803952). This process maintains essential Na(+) and K(+) gradients for membrane potential and cellular function. Could also be part of an osmosensory signaling pathway that senses body-fluid sodium levels and controls salt intake behavior as well as voluntary water intake to regulate sodium homeostasis (By similarity). {ECO:0000250|UniProtKB:Q8VDN2, ECO:0000269|PubMed:29499166, ECO:0000269|PubMed:30388404, ECO:0000269|PubMed:35803952}.
uniprot
proteins
mass_dalton
112896
uniprot
proteins
post_translational_modification
PTM: Phosphorylation on Tyr-10 modulates pumping activity. Phosphorylation of Ser-943 by PKA modulates the response of ATP1A1 to PKC. Dephosphorylation by protein phosphatase 2A (PP2A) following increases in intracellular sodium, leading to increase catalytic activity (By similarity). {ECO:0000250}.
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type IIC subfamily
uniprot
proteins
pubmed
1380674
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
18621045
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
1970326
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21454534
uniprot
proteins
pubmed
22084111
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2430951
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2891135
uniprot
proteins
pubmed
29499166
uniprot
proteins
pubmed
3035563
uniprot
proteins
pubmed
3036582
uniprot
proteins
pubmed
30388404
uniprot
proteins
pubmed
35803952
uniprot
proteins
pubmed
7536695
uniprot
proteins
pubmed
7711835
uniprot
proteins
sequence_length
1023
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8VDN2}; Multi-pass membrane protein {ECO:0000269|PubMed:35803952}. Basolateral cell membrane {ECO:0000250|UniProtKB:P06685}; Multi-pass membrane protein {ECO:0000269|PubMed:35803952}. Cell membrane, sarcolemma {ECO:0000269|PubMed:7711835}; Multi-pass membrane protein {ECO:0000269|PubMed:35803952}. Cell projection, axon {ECO:0000250|UniProtKB:P06685}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:17081065}.
uniprot
proteins
transmembrane_region
TRANSMEM 92..116; /note="Helical"; /evidence="ECO:0000269|PubMed:35803952, ECO:0007744|PDB:7E20"; TRANSMEM 128..148; /note="Helical"; /evidence="ECO:0000269|PubMed:35803952, ECO:0007744|PDB:7E20"; TRANSMEM 291..312; /note="Helical"; /evidence="ECO:0000269|PubMed:35803952, ECO:0007744|PDB:7E20"; TRANSMEM 319..342; /note="Helical"; /evidence="ECO:0000269|PubMed:35803952, ECO:0007744|PDB:7E20"; TRANSMEM 773..795; /note="Helical"; /evidence="ECO:0000269|PubMed:35803952, ECO:0007744|PDB:7E20"; TRANSMEM 804..822; /note="Helical"; /evidence="ECO:0000269|PubMed:35803952, ECO:0007744|PDB:7E20"; TRANSMEM 845..870; /note="Helical"; /evidence="ECO:0000269|PubMed:35803952, ECO:0007744|PDB:7E20"; TRANSMEM 918..938; /note="Helical"; /evidence="ECO:0000269|PubMed:35803952, ECO:0007744|PDB:7E20"; TRANSMEM 952..970; /note="Helical"; /evidence="ECO:0000269|PubMed:35803952, ECO:0007744|PDB:7E20"; TRANSMEM 985..1008; /note="Helical"; /evidence="ECO:0000255, ECO:0000269|PubMed:35803952, ECO:0007744|PDB:7E20
uniprot
proteins