ATP4A (ATPase H+/K+ transporting subunit alpha)

Gene

• Entrez ID: 495
• Gene name: ATPase H+/K+ transporting subunit alpha
• Gene symbol: ATP4A
• Synonyms (NCBI Gene): ATP6A
• Chromosome: 19
• Chromosome location: 19q13.12
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054640	hsa-miR-1289	Luciferase reporter assay, qRT-PCR, Western blot	24503769

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0000287	Function	Magnesium ion binding	ISS
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IBA
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	2160952
GO:0005889	Component	Potassium:proton exchanging ATPase complex	ISO
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006883	Process	Intracellular sodium ion homeostasis	IBA
GO:0008556	Function	P-type potassium transmembrane transporter activity	IEA
GO:0008900	Function	P-type potassium:proton transporter activity	IBA
GO:0008900	Function	P-type potassium:proton transporter activity	IEA
GO:0008900	Function	P-type potassium:proton transporter activity	TAS	2160952
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010155	Process	Regulation of proton transport	IEA
GO:0010248	Process	Establishment or maintenance of transmembrane electrochemical gradient	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030007	Process	Intracellular potassium ion homeostasis	IBA
GO:0030955	Function	Potassium ion binding	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0036376	Process	Sodium ion export across plasma membrane	IBA
GO:0045851	Process	PH reduction	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0071805	Process	Potassium ion transmembrane transport	ISO
GO:1902600	Process	Proton transmembrane transport	IBA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA

Other IDs

• MIM: 137216
• HGNC: 819
• e!Ensembl: ENSG00000105675

Protein

• UniProt ID: P20648
• Protein name: Potassium-transporting ATPase alpha chain 1 (EC 7.2.2.19) (Gastric H(+)/K(+) ATPase subunit alpha) (Proton pump)
• Protein function: The catalytic subunit of the gastric H(+)/K(+) ATPase pump which transports H(+) ions in exchange for K(+) ions across the apical membrane of parietal cells. Uses ATP as an energy source to pump H(+) ions to the gastric lumen while transporting
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09040	H-K_ATPase_N	2 → 43	Gastric H+/K+-ATPase, N terminal domain	Domain
  PF00690	Cation_ATPase_N	54 → 122	Cation transporter/ATPase, N-terminus	Domain
  PF00122	E1-E2_ATPase	174 → 365		Family
  PF13246	Cation_ATPase	437 → 532		Family
  PF00689	Cation_ATPase_C	810 → 1020	Cation transporting ATPase, C-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in gastric parietal cells (at protein level). {ECO:0000269|PubMed:24188822}.
• Sequence:

  MGKAENYELYSVELGPGPGGDMAAKMSKKKKAGGGGGKRKEKLENMKKEMEINDHQLSVA
  ELEQKYQTSATKGLSASLAAELLLRDGPNALRPPRGTPEYVKFARQLAGGLQCLMWVAAA
  ICLIAFAIQASEGDLTTDDNLYLAIALIAVVVVTGCFGYYQEFKSTNIIASFKNLVPQQA
  TVIRDGDKFQINADQLVVGDLVEMKGGDRVPADIRILAAQGCKVDNSSLTGESEPQTRSP
  ECTHESPLETRNIAFFSTMCLEGTVQGLVVNTGDRTIIGRIASLASGVENEKTPIAIEIE
  HFVDIIAGLAILFGATFFIVAMCIGYTFLRAMVFFMAIVVAYVPEGLLATVTVCLSLTAK
  RLASKNCVVKNLEAVETLGSTSVICSDKTGTLTQNRMTVSHLWFDNHIHTADTTEDQSGQ
  TFDQSSETWRALCRVLTLCNRAAFKSGQDAVPVPKRIVIGDASETALLKFSELTLGNAMG
  YRDRFPKVCEIPFNSTNKFQLSIHTLEDPRDPRHLLVMKGAPERVLERCSSILIKGQELP
  LDEQWREAFQTAYLSLGGLGERVLGFCQLYLNEKDYPPGYAFDVEAMNFPSSGLCFAGLV
  SMIDPPRATVPDAVLKCRTAGIRVIMVTGDHPITAKAIAASVGIISEGSETVEDIAARLR
  VPVDQVNRKDARACVINGMQLKDMDPSELVEALRTHPEMVFARTSPQQKLVIVESCQRLG
  AIVAVTGDGVNDSPALKKADIGVAMGIAGSDAAKNAADMILLDDNFASIVTGVEQGRLIF
  DNLKKSIAYTLTKNIPELTPYLIYITVSVPLPLGCITILFIELCTDIFPSVSLAYEKAES
  DIMHLRPRNPKRDRLVNEPLAAYSYFQIGAIQSFAGFTDYFTAMAQEGWFPLLCVGLRAQ
  WEDHHLQDLQDSYGQEWTFGQRLYQQYTCYTVFFISIEVCQIADVLIRKTRRLSAFQQGF
  FRNKILVIAIVFQVCIGCFLCYCPGMPNIFNFMPIRFQWWLVPLPYGILIFVYDEIRKLG
  VRCCPGSWWDQELYY

• Sequence length: 1035

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Collecting duct acid secretion
Gastric acid secretion

Reactome:

Ion transport by P-type ATPases

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS OF PREGNANCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Achlorhydria	Associate	17204545	★☆☆☆☆ Found in Text Mining only
Acidosis	Associate	21653633	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Associate	25084696	★☆☆☆☆ Found in Text Mining only
Gastritis	Inhibit	37962678	★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Associate	34944008	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	23317218	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Associate	25084696	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Inhibit	23317218, 33788653	★☆☆☆☆ Found in Text Mining only