Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	495
Gene name Gene Name - the full gene name approved by the HGNC.	ATPase H+/K+ transporting subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ATP4A
Synonyms (NCBI Gene) Gene synonyms aliases	ATP6A
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.12
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

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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

MIM	HGNC	e!Ensembl
137216	819	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

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Collecting duct acid secretion Gastric acid secretion		Ion transport by P-type ATPases

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Gastric Neuroendocrine Tumor	gastric neuroendocrine neoplasm, familial gastric type 1 neuroendocrine tumor	N/A	N/A	GenCC
Intrahepatic Cholestasis Of Pregnancy	Intrahepatic cholestasis of pregnancy	N/A	N/A	GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Achlorhydria	Associate	17204545
Acidosis	Associate	21653633
Anemia Sickle Cell	Associate	25084696
Gastritis	Inhibit	37962678
Gastritis Atrophic	Associate	34944008
Neoplasms	Associate	23317218
Spinocerebellar Ataxia 11	Associate	25084696
Stomach Neoplasms	Inhibit	23317218, 33788653

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