• Gene id: 478

Gene Summary

• Gene Symbol: ATP1A3   Gene   UCSC   Ensembl
• Aliases: AHC2, ATP1A1, CAPOS, DYT12, RDP
• Gene name: ATPase Na+/K+ transporting subunit alpha 3
• Alternate names: sodium/potassium-transporting ATPase subunit alpha-3, ATPase, Na+/K+ transporting, alpha 3 polypeptide, Na(+)/K(+) ATPase alpha(III) subunit, Na(+)/K(+) ATPase alpha-3 subunit, Na+, K+ activated adenosine triphosphatase alpha subunit, Na+/K+ ATPase 3, sodium pu,
• Gene location: 19q13.2 (41994229: 41966581)     Exons: 16     NC_000019.10
• 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: 182350

SNPs

rs13265504

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

NC_000008.11   g.3674977G>A
NC_000008.11   g.3674977G>C
NC_000008.11   g.3674977G>T
NC_000008.10   g.3532499G>A
NC_000008.10   g.3532499G>C
NC_000008.10   g.3532499G>T|SEQ=[G/A/C/T]|GENE=CSMD1

Protein Summary

• Protein general information: P13637  
  • Name: Sodium/potassium transporting ATPase subunit alpha 3 (Na(+)/K(+) ATPase alpha 3 subunit) (EC 7.2.2.13) (Na(+)/K(+) ATPase alpha(III) subunit) (Sodium pump subunit alpha 3)
  • Length: 1013  
  • Mass: 111749
• Sequence:

  MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQEILARDGPNALTPPPT
  TPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNLYLGIVLAAVVIITGCFSYYQEAKSSKIMES
  FKNMVPQQALVIREGEKMQVNAEEVVVGDLVEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDN
  PLETRNITFFSTNCVEGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILS
  LILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNR
  MTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNRAVFKGGQDNIPVLKRDVAGDASESALLKCI
  ELSSGSVKLMRERNKKVAEIPFNSTNKYQLSIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMK
  EAFQNAYLELGGLGERVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAG
  IKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDLKDFTSEQIDEILQNH
  TEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVT
  GVEEGRLIFDNLKKSIAYTLTSNIPEITPFLLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQ
  PRNPRTDKLVNERLISMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQ
  RKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMDVALRMYPLKP
  SWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY

• Structural information:
  • Interpro: IPR006068  IPR004014  IPR023299  IPR018303  IPR023298   IPR008250  IPR036412  IPR023214  IPR005775  IPR001757  
  • Prosite: PS00154
  • CDD: cd02608
  • STRING: ENSP00000444688
• Other Databases: GeneCards:  ATP1A3  Malacards:  ATP1A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	amyloid-beta binding	IDA	molecular function
GO:0032809	neuronal cell body membrane	IC	cellular component
GO:0030424	axon	IDA	cellular component
GO:0043025	neuronal cell body	IDA	cellular component
GO:0001540	amyloid-beta binding	TAS	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	NAS	molecular function
GO:1990535	neuron projection maintenance	IGI	biological process
GO:1904646	cellular response to amyloid-beta	ISS	biological process
GO:0001917	photoreceptor inner segment	ISS	cellular component
GO:0005890	sodium:potassium-exchanging ATPase complex	NAS	cellular component
GO:0005886	plasma membrane	IGI	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0060342	photoreceptor inner segment membrane	ISS	cellular component
GO:0031090	organelle membrane	IGI	cellular component
GO:0098984	neuron to neuron synapse	ISS	cellular component
GO:0060075	regulation of resting membrane potential	TAS	biological process
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:0045202	synapse	ISS	cellular component
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:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	IEA	molecular function
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: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:0006883	cellular sodium ion homeostasis	IDA	biological process
GO:0036376	sodium ion export across plasma membrane	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:1990239	steroid hormone binding	NAS	molecular function
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	TAS	biological process
GO:1903416	response to glycoside	NAS	biological process
GO:0071383	cellular response to steroid hormone stimulus	NAS	biological process
GO:0005886	plasma membrane	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:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005890	sodium:potassium-exchanging ATPase complex	IC	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005524	ATP binding	NAS	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	IMP	molecular function
GO:0099520	ion antiporter activity involved in regulation of presynaptic membrane potential	IMP	molecular function

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 dystonia	KEGG:H00831
Alternating hemiplegia of childhood	KEGG:H00998
CAPOS syndrome	KEGG:H02272
Primary dystonia	KEGG:H00831
Alternating hemiplegia of childhood	KEGG:H00998
CAPOS syndrome	KEGG:H02272
Dystonia 12	PMID:25359261
epilepsy	PMID:25656163
Bipolar disorder	PMID:9646882
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray