ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1)

Gene

• Entrez ID: 476
• Gene name: ATPase Na+/K+ transporting subunit alpha 1
• Gene symbol: ATP1A1
• Synonyms: CMT2DD, HOMGSMR2
• Chromosome: 1
• Chromosome location: 1p13.1
• Summary: 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 of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

SNPs

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
rs1557785499	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1557785503	G>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

miRNA

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
MIRT038912	hsa-miR-93-3p	CLASH	23622248
MIRT041714	hsa-miR-484	CLASH	23622248
MIRT044531	hsa-miR-320a	CLASH	23622248
MIRT046260	hsa-miR-23b-3p	CLASH	23622248
MIRT047825	hsa-miR-30d-5p	CLASH	23622248
MIRT048123	hsa-miR-197-3p	CLASH	23622248
MIRT048222	hsa-miR-196a-5p	CLASH	23622248
MIRT048687	hsa-miR-99a-5p	CLASH	23622248
MIRT049192	hsa-miR-92a-3p	CLASH	23622248
MIRT050108	hsa-miR-26a-5p	CLASH	23622248
MIRT050658	hsa-miR-18a-5p	CLASH	23622248
MIRT052345	hsa-let-7b-5p	CLASH	23622248
MIRT719036	hsa-miR-384	HITS-CLIP	19536157
MIRT719037	hsa-miR-3685	HITS-CLIP	19536157
MIRT719038	hsa-miR-155-3p	HITS-CLIP	19536157
MIRT719039	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT719040	hsa-miR-4746-3p	HITS-CLIP	19536157
MIRT719041	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT719042	hsa-miR-1250-5p	HITS-CLIP	19536157
MIRT719043	hsa-miR-6753-5p	HITS-CLIP	19536157
MIRT719044	hsa-miR-1911-3p	HITS-CLIP	19536157

Gene ontology (GO)

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
GO:0005391	Function	P-type sodium:potassium-exchanging ATPase activity	ISS
GO:0005515	Function	Protein binding	IPI	11027149, 15671290, 16730713, 18504258, 21278788, 22084111, 25012180, 30021884
GO:0005524	Function	ATP binding	ISS
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005794	Component	Golgi apparatus	ISS
GO:0005886	Component	Plasma membrane	HDA	16791210
GO:0005886	Component	Plasma membrane	IDA	7711835, 18522992
GO:0005886	Component	Plasma membrane	IGI	19751721
GO:0005886	Component	Plasma membrane	TAS
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IDA	10636900, 19542013
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IGI	18052210
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	ISS
GO:0005901	Component	Caveola	IEA
GO:0006883	Process	Cellular sodium ion homeostasis	IBA	21873635
GO:0006883	Process	Cellular sodium ion homeostasis	IDA	10636900, 19542013
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0010248	Process	Establishment or maintenance of transmembrane electrochemical gradient	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0016020	Component	Membrane	TAS	1975705
GO:0016021	Component	Integral component of membrane	ISS
GO:0016311	Process	Dephosphorylation	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	11193188
GO:0016328	Component	Lateral plasma membrane	IDA	11193188
GO:0016791	Function	Phosphatase activity	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030007	Process	Cellular potassium ion homeostasis	IBA	21873635
GO:0030007	Process	Cellular potassium ion homeostasis	IDA	10636900, 19542013
GO:0030315	Component	T-tubule	IGI	19751721
GO:0030506	Function	Ankyrin binding	IEA
GO:0030955	Function	Potassium ion binding	ISS
GO:0031090	Component	Organelle membrane	IGI	19751721
GO:0031402	Function	Sodium ion binding	ISS
GO:0031947	Process	Negative regulation of glucocorticoid biosynthetic process	IEA
GO:0032991	Component	Protein-containing complex	IDA	22797923
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0036126	Component	Sperm flagellum	IDA	16861705
GO:0036376	Process	Sodium ion export across plasma membrane	IBA	21873635
GO:0036376	Process	Sodium ion export across plasma membrane	IDA	10636900, 19542013
GO:0036376	Process	Sodium ion export across plasma membrane	ISS
GO:0042383	Component	Sarcolemma	ISS
GO:0042470	Component	Melanosome	IEA
GO:0042493	Process	Response to drug	IEA
GO:0043531	Function	ADP binding	IEA
GO:0043548	Function	Phosphatidylinositol 3-kinase binding	IEA
GO:0045121	Component	Membrane raft	ISS
GO:0045822	Process	Negative regulation of heart contraction	IEA
GO:0045823	Process	Positive regulation of heart contraction	IEA
GO:0045989	Process	Positive regulation of striated muscle contraction	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0051087	Function	Chaperone binding	IPI	10636900
GO:0055119	Process	Relaxation of cardiac muscle	TAS	23224879
GO:0060081	Process	Membrane hyperpolarization	IEA
GO:0060342	Component	Photoreceptor inner segment membrane	ISS	26373354
GO:0070062	Component	Extracellular exosome	HDA	12519789, 19199708, 20458337
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071383	Process	Cellular response to steroid hormone stimulus	IDA	11546672
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	TAS	23224879
GO:0086004	Process	Regulation of cardiac muscle cell contraction	IEA
GO:0086009	Process	Membrane repolarization	IDA	19542013
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IC	19542013
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	TAS	19683723
GO:1902600	Process	Proton transmembrane transport	IBA	21873635
GO:1903416	Process	Response to glycoside	IDA	11546672
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1903779	Process	Regulation of cardiac conduction	TAS
GO:1990239	Function	Steroid hormone binding	IDA	14742675
GO:1990573	Process	Potassium ion import across plasma membrane	IBA	21873635
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	10636900, 19542013
GO:1990573	Process	Potassium ion import across plasma membrane	ISS

Other IDs

• MIM: 182310
• HGNC: 799
• e!Ensembl: 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 potassium ions, providing the energy for active transport of various nutrients.
• 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
  RGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAA
  TEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSI
  NAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETR
  NIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAAEIEHFIHIITGVAV
  FLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKN
  LEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWLA
  LSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIELCCGSVKEMRERYAKIVEI
  PFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDRCSSILLHGKEQPLDEELKDAFQN
  AYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVP
  DAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDA
  KACVVHGSDLKDMTSEQLDDILKYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVN
  DSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTL
  TSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPK
  TDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVED
  SYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFE
  ETALAAFLSYCPGMGVALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKE
  TYY

• Sequence length: 1023