Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
476
Gene name Gene Name - the full gene name approved by the HGNC.
ATPase Na+/K+ transporting subunit alpha 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATP1A1
Synonyms (NCBI Gene) Gene synonyms aliases
CMT2DD, HOMGSMR2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMT2DD, HOMGSMR2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients o
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs11540945 T>G Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs724160008 TCTCAATGTTACTGT>- Pathogenic Coding sequence variant, inframe deletion, non coding transcript variant
rs724160010 T>G Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs1401759980 C>G,T Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1553190285 T>G Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016292 hsa-miR-193b-3p Proteomics 21512034
MIRT019537 hsa-miR-340-5p Sequencing 20371350
MIRT028862 hsa-miR-26b-5p Microarray 19088304
MIRT052345 hsa-let-7b-5p CLASH 23622248
MIRT050658 hsa-miR-18a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002026 Process Regulation of the force of heart contraction IEA
GO:0002028 Process Regulation of sodium ion transport ISS
GO:0005391 Function P-type sodium:potassium-exchanging ATPase activity IBA 21873635
GO:0005391 Function P-type sodium:potassium-exchanging ATPase activity IDA 10636900, 19542013
GO:0005391 Function P-type sodium:potassium-exchanging ATPase activity IGI 18052210
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
182310 799 ENSG00000163399
Protein
UniProt ID P05023
Protein name Sodium/potassium-transporting ATPase subunit alpha-1 (Na(+)/K(+) ATPase alpha-1 subunit) (EC 7.2.2.13) (Sodium pump subunit alpha-1)
Protein function This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassi
PDB 7E1Z , 7E20 , 7E21
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00690 Cation_ATPase_N 43 111 Cation transporter/ATPase, N-terminus Domain
PF00122 E1-E2_ATPase 163 354 Family
PF13246 Cation_ATPase 426 521 Family
PF00689 Cation_ATPase_C 799 1008 Cation transporting ATPase, C-terminus Family
Sequence
MGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLS
RGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILC
FLAYSIQAA
TEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSI
NAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETR
NIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAAEIEHFIHIITGVAV
FLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARK
NCLVKN
LEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWLA
LSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIELCCGSVKEMRERYAKIVEI
PFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDRCSSI
LLHGKEQPLDEELKDAFQN
AYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVP
DAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDA
KACVVHGSDLKDMTSEQLDDILKYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVN
DSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTL
TSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPK
TDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVED
SYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFE
ETALAAFLSYCPGMGVALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLI
IRRRPGGWVEKE
TYY
Sequence length 1023
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Mental retardation hypomagnesemia, seizures, and intellectual disability 2 GenCC
Neurodevelopmental Disorders neurodevelopmental disorder GenCC
Associations from Text Mining
Disease Name Relationship Type References
ACTH Secreting Pituitary Adenoma Associate 26743443
Adenoma Associate 34681640
Adrenocortical Adenoma Associate 26765578, 31789380, 34681640
Adrenocortical Carcinoma Associate 34681640
Alcoholic Neuropathy Associate 35110381
Alzheimer Disease Associate 38212844
Anxiety Associate 27487491
Anxiety Disorders Associate 27487491
Carcinoma Hepatocellular Associate 20460749, 26334094
Carcinoma Hepatocellular Stimulate 33868261