• Gene id: 480

Gene Summary

• Gene Symbol: ATP1A4   Gene   UCSC   Ensembl
• Aliases: ATP1A1, ATP1AL2
• Gene name: ATPase Na+/K+ transporting subunit alpha 4
• Alternate names: sodium/potassium-transporting ATPase subunit alpha-4, ATPase, Na+/K+ transporting, alpha 4 polypeptide, ATPase, Na+/K+ transporting, alpha polypeptide-like 2, Na(+)/K(+) ATPase alpha-4 subunit, Na+/K+ ATPase 4, Na+/K+ ATPase, alpha-D polypeptide, Na,K-ATPase su,
• Gene location: 1q23.2 (160151602: 160186979)     Exons: 23     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: 607321

Protein Summary

• Protein general information: Q13733  
  • Name: Sodium/potassium transporting ATPase subunit alpha 4 (Na(+)/K(+) ATPase alpha 4 subunit) (EC 7.2.2.13) (Sodium pump subunit alpha 4)
  • Length: 1029  
  • Mass: 114166
  • Tissue specificity: Specifically expressed in testis. Found in very low levels in skeletal muscle. Expressed in mature sperm (at protein level).
• Sequence:

  MGLWGKKGTVAPHDQSPRRRPKKGLIKKKMVKREKQKRNMEELKKEVVMDDHKLTLEELSTKYSVDLTKGHSHQR
  AKEILTRGGPNTVTPPPTTPEWVKFCKQLFGGFSLLLWTGAILCFVAYSIQIYFNEEPTKDNLYLSIVLSVVVIV
  TGCFSYYQEAKSSKIMESFKNMVPQQALVIRGGEKMQINVQEVVLGDLVEIKGGDRVPADLRLISAQGCKVDNSS
  LTGESEPQSRSPDFTHENPLETRNICFFSTNCVEGTARGIVIATGDSTVMGRIASLTSGLAVGQTPIAAEIEHFI
  HLITVVAVFLGVTFFALSLLLGYGWLEAIIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETL
  GSTSTICSDKTGTLTQNRMTVAHMWFDMTVYEADTTEEQTGKTFTKSSDTWFMLARIAGLCNRADFKANQEILPI
  AKRATTGDASESALLKFIEQSYSSVAEMREKNPKVAEIPFNSTNKYQMSIHLREDSSQTHVLMMKGAPERILEFC
  STFLLNGQEYSMNDEMKEAFQNAYLELGGLGERVLGFCFLNLPSSFSKGFPFNTDEINFPMDNLCFVGLISMIDP
  PRAAVPDAVSKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGTETAEEVAARLKIPISKVDASAAKAIVVHGAE
  LKDIQSKQLDQILQNHPEIVFARTSPQQKLIIVEGCQRLGAVVAVTGDGVNDSPALKKADIGIAMGISGSDVSKQ
  AADMILLDDNFASIVTGVEEGRLIFDNLKKSIMYTLTSNIPEITPFLMFIILGIPLPLGTITILCIDLGTDMVPA
  ISLAYESAESDIMKRLPRNPKTDNLVNHRLIGMAYGQIGMIQALAGFFTYFVILAENGFRPVDLLGIRLHWEDKY
  LNDLEDSYGQQWTYEQRKVVEFTCQTAFFVTIVVVQWADLIISKTRRNSLFQQGMRNKVLIFGILEETLLAAFLS
  YTPGMDVALRMYPLKITWWLCAIPYSILIFVYDEIRKLLIRQHPDGWVERETYY

• Structural information:
  • Interpro: IPR006068  IPR004014  IPR023299  IPR018303  IPR023298   IPR008250  IPR036412  IPR023214  IPR005775  IPR001757  
  • Prosite: PS00154
  • CDD: cd02608
  • STRING: ENSP00000357060
• Other Databases: GeneCards:  ATP1A4  Malacards:  ATP1A4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0120200	rod photoreceptor outer segment	IDA	cellular component
GO:0097225	sperm midpiece	IDA	cellular component
GO:0005391	sodium:potassium-exchanging ATPase activity	ISS	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	IGI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097733	photoreceptor cell cilium	IDA	cellular component
GO:0019900	kinase binding	ISS	molecular function
GO:0019829	ATPase-coupled cation transmembrane transporter activity	IGI	molecular function
GO:0006811	ion transport	NAS	biological process
GO:0007166	cell surface receptor signaling pathway	ISS	biological process
GO:0035725	sodium ion transmembrane transport	ISS	biological process
GO:0035725	sodium ion transmembrane transport	IGI	biological process
GO:0045121	membrane raft	ISS	cellular component
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	IPI	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0071805	potassium ion transmembrane transport	IGI	biological process
GO:0071805	potassium ion transmembrane transport	ISS	biological process
GO:1902600	proton transmembrane transport	IBA	biological process
GO:0036376	sodium ion export across plasma membrane	IBA	biological process
GO:0006883	cellular sodium ion homeostasis	IBA	biological process
GO:1990573	potassium ion import across plasma membrane	IBA	biological process
GO:0030007	cellular potassium ion homeostasis	IBA	biological process
GO:0005391	sodium:potassium-exchanging ATPase activity	IBA	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:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
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:0007283	spermatogenesis	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0009566	fertilization	IEA	biological process
GO:0005391	sodium:potassium-exchanging ATPase activity	IEA	molecular function
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0030641	regulation of cellular pH	IEA	biological process
GO:0005391	sodium:potassium-exchanging ATPase activity	IEA	molecular function
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0042391	regulation of membrane potential	IEA	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:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0030641	regulation of cellular pH	IDA	biological process
GO:0030317	flagellated sperm motility	IDA	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:1902600	proton transmembrane transport	TAS	biological process
GO:0006814	sodium ion transport	TAS	biological process
GO:0006813	potassium ion transport	TAS	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	TAS	cellular component
GO:0005391	sodium:potassium-exchanging ATPase activity	TAS	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
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R