• Gene id: 495

Gene Summary

• Gene Symbol: ATP4A   Gene   UCSC   Ensembl
• Aliases: ATP6A
• Gene name: ATPase H+/K+ transporting subunit alpha
• Alternate names: potassium-transporting ATPase alpha chain 1, ATPase H+/K+ transporting alpha subunit, ATPase, H+/K+ exchanging, alpha polypeptide, ATPase, H+/K+ transporting, alpha polypeptide, epididymis secretory sperm binding protein, gastric H+/K+ ATPase alpha subunit, gas,
• Gene location: 19q13.12 (35563657: 35550030)     Exons: 22     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This

Protein Summary

• Protein general information: P20648  
  • Name: Potassium transporting ATPase alpha chain 1 (EC 7.2.2.19) (Gastric H(+)/K(+) ATPase subunit alpha) (Proton pump)
  • Length: 1035  
  • Mass: 114119
  • Tissue specificity: Found in gastric mucosa.
• Sequence:

  MGKAENYELYSVELGPGPGGDMAAKMSKKKKAGGGGGKRKEKLENMKKEMEINDHQLSVAELEQKYQTSATKGLS
  ASLAAELLLRDGPNALRPPRGTPEYVKFARQLAGGLQCLMWVAAAICLIAFAIQASEGDLTTDDNLYLAIALIAV
  VVVTGCFGYYQEFKSTNIIASFKNLVPQQATVIRDGDKFQINADQLVVGDLVEMKGGDRVPADIRILAAQGCKVD
  NSSLTGESEPQTRSPECTHESPLETRNIAFFSTMCLEGTVQGLVVNTGDRTIIGRIASLASGVENEKTPIAIEIE
  HFVDIIAGLAILFGATFFIVAMCIGYTFLRAMVFFMAIVVAYVPEGLLATVTVCLSLTAKRLASKNCVVKNLEAV
  ETLGSTSVICSDKTGTLTQNRMTVSHLWFDNHIHTADTTEDQSGQTFDQSSETWRALCRVLTLCNRAAFKSGQDA
  VPVPKRIVIGDASETALLKFSELTLGNAMGYRDRFPKVCEIPFNSTNKFQLSIHTLEDPRDPRHLLVMKGAPERV
  LERCSSILIKGQELPLDEQWREAFQTAYLSLGGLGERVLGFCQLYLNEKDYPPGYAFDVEAMNFPSSGLCFAGLV
  SMIDPPRATVPDAVLKCRTAGIRVIMVTGDHPITAKAIAASVGIISEGSETVEDIAARLRVPVDQVNRKDARACV
  INGMQLKDMDPSELVEALRTHPEMVFARTSPQQKLVIVESCQRLGAIVAVTGDGVNDSPALKKADIGVAMGIAGS
  DAAKNAADMILLDDNFASIVTGVEQGRLIFDNLKKSIAYTLTKNIPELTPYLIYITVSVPLPLGCITILFIELCT
  DIFPSVSLAYEKAESDIMHLRPRNPKRDRLVNEPLAAYSYFQIGAIQSFAGFTDYFTAMAQEGWFPLLCVGLRAQ
  WEDHHLQDLQDSYGQEWTFGQRLYQQYTCYTVFFISIEVCQIADVLIRKTRRLSAFQQGFFRNKILVIAIVFQVC
  IGCFLCYCPGMPNIFNFMPIRFQWWLVPLPYGILIFVYDEIRKLGVRCCPGSWWDQELYY

• Structural information:
  • Interpro: IPR006068  IPR004014  IPR023299  IPR015127  IPR018303   IPR023298  IPR008250  IPR036412  IPR023214  IPR005775  IPR001757  
  • Prosite: PS00154
  • CDD: cd02608
  • STRING: ENSP00000262623
• Other Databases: GeneCards:  ATP4A  Malacards:  ATP4A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902600	proton transmembrane transport	IBA	biological process
GO:0036376	sodium ion export across plasma membrane	IBA	biological process
GO:0008900	potassium:proton exchanging ATPase activity	IBA	molecular function
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:0000287	magnesium ion binding	IEA	molecular function
GO:0008900	potassium:proton exchanging ATPase activity	IEA	molecular function
GO:1902600	proton transmembrane transport	IEA	biological process
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:0016020	membrane	IEA	cellular component
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:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0008900	potassium:proton exchanging ATPase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0008900	potassium:proton exchanging ATPase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0005615	extracellular space	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00190	Oxidative phosphorylation
hsa04971	Gastric acid secretion
hsa04966	Collecting duct acid secretion

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq