• Gene id: 476

Gene Summary

• Gene Symbol: ATP1A1   Gene   UCSC   Ensembl
• Aliases: CMT2DD, HOMGSMR2
• Gene name: ATPase Na+/K+ transporting subunit alpha 1
• Alternate names: sodium/potassium-transporting ATPase subunit alpha-1, ATPase, Na+/K+ transporting, alpha 1 polypeptide, Na(+)/K(+) ATPase alpha-1 subunit, Na+/K+ ATPase 1, Na, K-ATPase, alpha-A catalytic polypeptide, Na,K-ATPase alpha-1 subunit, Na,K-ATPase catalytic subunit a,
• Gene location: 1p13.1 (116372985: 116410258)     Exons: 26     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 606522

SNPs

rs397515414

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.71137272T>A
NC_000016.9   g.71171175T>A
NG_033116.2   g.98451A>T
NM_017558.5   c.922A>T
NM_017558.4   c.922A>T
NM_001270974.2   c.922A>T
NM_001270974.1   c.922A>T
NM_001198542.1   c.1003A>T
NM_001198543.1   c.973A>T
XM_006721206.3   c.973A>T
XM_01152314  

rs397515413

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.70988133C>A
NC_000016.9   g.71022036C>A
NG_033116.2   g.247590G>T
NM_001270974.2   c.3985G>T
NM_001270974.1   c.3985G>T
XM_006721206.3   c.4036G>T
XM_011523146.2   c.4168G>T
XM_017023346.2   c.4105G>T
XM_011523151.2   c.4066G>T
XM_011523148.1   c.4087G>

rs10848911

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.3705072G>A
NC_000012.12   g.3705072G>T
NC_000012.11   g.3814238G>A
NC_000012.11   g.3814238G>T|SEQ=[G/A/T]|GENE=CRACR2A

rs4938723

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

Protein Summary

• Protein general information: P05023  
  • Name: Sodium/potassium transporting ATPase subunit alpha 1 (Na(+)/K(+) ATPase alpha 1 subunit) (EC 7.2.2.13) (Sodium pump subunit alpha 1)
  • Length: 1023  
  • Mass: 112896
• Sequence:

  MGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARD
  GPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNLYLGVVLSAVVIITGCFSYYQ
  EAKSSKIMESFKNMVPQQALVIRNGEKMSINAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQ
  TRSPDFTNENPLETRNIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAAEIEHFIHIITGVAV
  FLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICS
  DKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWLALSRIAGLCNRAVFQANQENLPILKRAVAGD
  ASESALLKCIELCCGSVKEMRERYAKIVEIPFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDRCSSILLHG
  KEQPLDEELKDAFQNAYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVP
  DAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVVHGSDLKDMTS
  EQLDDILKYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMIL
  LDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYE
  QAESDIMKRQPRNPKTDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVED
  SYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMG
  VALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKETYY

• Structural information:
  • Interpro: IPR006068  IPR004014  IPR023299  IPR018303  IPR023298   IPR008250  IPR036412  IPR023214  IPR005775  IPR001757  
  • Prosite: PS00154
  • CDD: cd02608
  • DIP: 38196
  • STRING: ENSP00000445306
• Other Databases: GeneCards:  ATP1A1  Malacards:  ATP1A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016328	lateral plasma membrane	IDA	cellular component
GO:0036126	sperm flagellum	IDA	cellular component
GO:0005391	sodium:potassium-exchanging ATPase activity	IGI	molecular function
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:0030315	T-tubule	IGI	cellular component
GO:0045121	membrane raft	ISS	cellular component
GO:0005890	sodium:potassium-exchanging ATPase complex	ISS	cellular component
GO:0005890	sodium:potassium-exchanging ATPase complex	IGI	cellular component
GO:0005890	sodium:potassium-exchanging ATPase complex	ISS	cellular component
GO:0005886	plasma membrane	IGI	cellular component
GO:0060342	photoreceptor inner segment membrane	ISS	cellular component
GO:0031090	organelle membrane	IGI	cellular component
GO:0006883	cellular sodium ion homeostasis	IBA	biological process
GO:0036376	sodium ion export across plasma membrane	IBA	biological process
GO:1902600	proton transmembrane transport	IBA	biological process
GO:0005391	sodium:potassium-exchanging ATPase activity	IBA	molecular function
GO:0030007	cellular potassium ion homeostasis	IBA	biological process
GO:1990573	potassium ion import across plasma membrane	IBA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0002028	regulation of sodium ion transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	ISS	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0008556	potassium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005391	sodium:potassium-exchanging ATPase activity	TAS	molecular function
GO:0005890	sodium:potassium-exchanging ATPase complex	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0005391	sodium:potassium-exchanging ATPase activity	IEA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045121	membrane raft	IEA	cellular component
GO:0043548	phosphatidylinositol 3-kinase binding	IEA	molecular function
GO:0036376	sodium ion export across plasma membrane	IEA	biological process
GO:0031402	sodium ion binding	IEA	molecular function
GO:0030955	potassium ion binding	IEA	molecular function
GO:0030315	T-tubule	IEA	cellular component
GO:0014704	intercalated disc	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0005901	caveola	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0002028	regulation of sodium ion transport	IEA	biological process
GO:0045989	positive regulation of striated muscle contraction	IEA	biological process
GO:0045822	negative regulation of heart contraction	IEA	biological process
GO:0030315	T-tubule	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0008217	regulation of blood pressure	IEA	biological process
GO:1990573	potassium ion import across plasma membrane	IEA	biological process
GO:0086004	regulation of cardiac muscle cell contraction	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0060081	membrane hyperpolarization	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0051087	chaperone binding	IEA	molecular function
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0043531	ADP binding	IEA	molecular function
GO:0042383	sarcolemma	IEA	cellular component
GO:0030506	ankyrin binding	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0019901	protein kinase binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	IEA	molecular function
GO:0045823	positive regulation of heart contraction	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0031947	negative regulation of glucocorticoid biosynthetic process	IEA	biological process
GO:0016791	phosphatase activity	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005391	sodium:potassium-exchanging ATPase activity	IEA	molecular function
GO:0002026	regulation of the force of heart contraction	IEA	biological process
GO:0005524	ATP binding	ISS	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	ISS	contributes to
GO:0036376	sodium ion export across plasma membrane	ISS	biological process
GO:0030955	potassium ion binding	ISS	molecular function
GO:1990573	potassium ion import across plasma membrane	ISS	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	ISS	cellular component
GO:0005391	sodium:potassium-exchanging ATPase activity	IDA	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	IDA	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0030007	cellular potassium ion homeostasis	IDA	biological process
GO:1990573	potassium ion import across plasma membrane	IDA	biological process
GO:0030007	cellular potassium ion homeostasis	IDA	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	IDA	cellular component
GO:0006883	cellular sodium ion homeostasis	IDA	biological process
GO:0036376	sodium ion export across plasma membrane	IDA	biological process
GO:0006883	cellular sodium ion homeostasis	IDA	biological process
GO:0086013	membrane repolarization during cardiac muscle cell action potential	IC	biological process
GO:0036376	sodium ion export across plasma membrane	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0086009	membrane repolarization	IDA	biological process
GO:1990573	potassium ion import across plasma membrane	IDA	biological process
GO:1990239	steroid hormone binding	IDA	molecular function
GO:0005890	sodium:potassium-exchanging ATPase complex	IDA	cellular component
GO:0042383	sarcolemma	ISS	cellular component
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	TAS	biological process
GO:1903416	response to glycoside	IDA	biological process
GO:0086002	cardiac muscle cell action potential involved in contraction	TAS	biological process
GO:0071383	cellular response to steroid hormone stimulus	IDA	biological process
GO:0031402	sodium ion binding	ISS	molecular function
GO:0030955	potassium ion binding	ISS	molecular function
GO:0055119	relaxation of cardiac muscle	TAS	biological process
GO:0005524	ATP binding	ISS	molecular function
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005794	Golgi apparatus	ISS	cellular component
GO:1990573	potassium ion import across plasma membrane	ISS	biological process
GO:0042470	melanosome	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0016021	integral component of membrane	ISS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04919	Thyroid hormone signaling pathway
hsa04974	Protein digestion and absorption
hsa04260	Cardiac muscle contraction
hsa04925	Aldosterone synthesis and secretion
hsa04972	Pancreatic secretion
hsa04970	Salivary secretion
hsa04911	Insulin secretion
hsa04971	Gastric acid secretion
hsa04918	Thyroid hormone synthesis
hsa04978	Mineral absorption
hsa04976	Bile secretion
hsa04961	Endocrine and other factor-regulated calcium reabsorption
hsa04973	Carbohydrate digestion and absorption
hsa04960	Aldosterone-regulated sodium reabsorption
hsa04964	Proximal tubule bicarbonate reclamation

Diseases

Associated diseases	References
Primary aldosteronism	KEGG:H01603
Primary aldosteronism	KEGG:H01603
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881