Human Gene ATP4A (ENST00000262623.4_7) from GENCODE V47lift37
  Description: ATPase H+/K+ transporting subunit alpha (from RefSeq NM_000704.3)
Gencode Transcript: ENST00000262623.4_7
Gencode Gene: ENSG00000105675.9_12
Transcript (Including UTRs)
   Position: hg19 chr19:36,040,933-36,054,560 Size: 13,628 Total Exon Count: 22 Strand: -
Coding Region
   Position: hg19 chr19:36,041,517-36,054,531 Size: 13,015 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:36,040,933-36,054,560)mRNA (may differ from genome)Protein (1035 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ATP4A_HUMAN
DESCRIPTION: RecName: Full=Potassium-transporting ATPase alpha chain 1; EC=3.6.3.10; AltName: Full=Gastric H(+)/K(+) ATPase subunit alpha; AltName: Full=Proton pump;
FUNCTION: Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for acid production in the stomach.
CATALYTIC ACTIVITY: ATP + H(2)O + H(+)(In) + K(+)(Out) = ADP + phosphate + H(+)(Out) + K(+)(In).
SUBUNIT: Composed of two subunits: alpha (catalytic) and beta.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Found in gastric mucosa.
SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ATP4A
Diseases sorted by gene-association score: familial gastric type 1 neuroendocrine tumor* (350), esophageal disease (20), peptic esophagitis (19), hiatus hernia (19), active peptic ulcer disease (18), laryngeal disease (18), chronic laryngitis (17), peptic ulcer perforation (16), duodenal disease (16), esophageal candidiasis (16), bladder calculus (14), fungal esophagitis (14), functional gastric disease (14), esophagitis, eosinophilic, 1 (13), dyskinesia of esophagus (12), esophagus adenocarcinoma (12), peptic ulcer disease (11), gastric antral vascular ectasia (11), gastroduodenal crohn's disease (11), laryngitis (10), photoallergic dermatitis (10), bile reflux (10), rumination disorder (8), duodenitis (8), gastrointestinal system disease (8), neonatal candidiasis (8), squamous papillomatosis (8), gastrointestinal neuroendocrine benign tumor (8), gastric neuroendocrine neoplasm (8), acute laryngitis (8), postsurgical hypothyroidism (8), congenital disorder of deglycosylation (8), myopathy, x-linked, with excessive autophagy (8), aspiration pneumonitis (7), toxic megacolon (7), clostridium difficile colitis (7), pneumatosis cystoides intestinalis (7), lymphocytic colitis (7), stomach disease (7), esophageal varix (7), ischemic neuropathy (7), eosinophilic gastritis (7), chronic intestinal vascular insufficiency (6), granulomatous gastritis (6), superior mesenteric artery syndrome (6), polyposis, skin pigmentation, alopecia, and fingernail changes (6), diarrhea 1, secretory chloride, congenital (6), laryngeal tuberculosis (6), capillary disease (6), aspiration pneumonia (5), lower urinary tract calculus (5), esophageal atresia/tracheoesophageal fistula (5), anismus (5), barrett esophagus/esophageal adenocarcinoma (5), functional diarrhea (5), pain disorder (5), pancreatic steatorrhea (5), lateral medullary syndrome (4), jejunoileitis (4), cloacal exstrophy (4), acquired thrombocytopenia (3), lymphoma, malt, somatic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 646.09 RPKM in Stomach
Total median expression: 665.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.4029-0.324 Picture PostScript Text
3' UTR -233.70584-0.400 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023306 - ATPase_cation_domN
IPR008250 - ATPase_P-typ_ATPase-assoc-dom
IPR005775 - ATPase_P-typ_cation-ex_asu_euk
IPR006069 - ATPase_P-typ_cation-exchng_asu
IPR006068 - ATPase_P-typ_cation-transptr_C
IPR004014 - ATPase_P-typ_cation-transptr_N
IPR023300 - ATPase_P-typ_cyto_domA
IPR023299 - ATPase_P-typ_cyto_domN
IPR015127 - ATPase_P-typ_H/K-transp_N
IPR001757 - ATPase_P-typ_ion-transptr
IPR018303 - ATPase_P-typ_P_site
IPR023298 - ATPase_P-typ_TM_dom
IPR005834 - Dehalogen-like_hydro
IPR023214 - HAD-like_dom

Pfam Domains:
PF00122 - E1-E2 ATPase
PF00689 - Cation transporting ATPase, C-terminus
PF00690 - Cation transporter/ATPase, N-terminus
PF00702 - haloacid dehalogenase-like hydrolase
PF08282 - haloacid dehalogenase-like hydrolase
PF09040 - Gastric H+/K+-ATPase, N terminal domain
PF13246 - Cation transport ATPase (P-type)

SCOP Domains:
81653 - Calcium ATPase, transduction domain A
56784 - HAD-like
81660 - Metal cation-transporting ATPase, ATP-binding domain N
81665 - Calcium ATPase, transmembrane domain M

ModBase Predicted Comparative 3D Structure on P20648
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000287 magnesium ion binding
GO:0005391 sodium:potassium-exchanging ATPase activity
GO:0005524 ATP binding
GO:0008900 hydrogen:potassium-exchanging ATPase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0006814 sodium ion transport
GO:0010248 establishment or maintenance of transmembrane electrochemical gradient
GO:0015991 ATP hydrolysis coupled proton transport

Cellular Component:
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AL832971 - Homo sapiens mRNA; cDNA DKFZp666G172 (from clone DKFZp666G172).
AK223259 - Homo sapiens mRNA for ATPase, H+/K+ exchanging, alpha polypeptide variant, clone: STM07904.
GQ891529 - Homo sapiens clone HEL-S-250 epididymis secretory sperm binding protein mRNA, complete cds.
AK058032 - Homo sapiens cDNA FLJ25303 fis, clone STM07904, highly similar to POTASSIUM-TRANSPORTING ATPASE ALPHA CHAIN (EC 3.6.1.36).
AK308474 - Homo sapiens cDNA, FLJ98515.
BC167780 - Synthetic construct Homo sapiens clone IMAGE:100068170, MGC:195787 ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A) mRNA, encodes complete protein.
JD500981 - Sequence 482005 from Patent EP1572962.
JD526414 - Sequence 507438 from Patent EP1572962.
JD345971 - Sequence 326995 from Patent EP1572962.
JD452441 - Sequence 433465 from Patent EP1572962.
JD417795 - Sequence 398819 from Patent EP1572962.
JD223023 - Sequence 204047 from Patent EP1572962.
JD550599 - Sequence 531623 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P20648 (Reactome details) participates in the following event(s):

R-HSA-937311 ATP4A/12A:ATP4B exchanges K+ for H+
R-HSA-936837 Ion transport by P-type ATPases
R-HSA-983712 Ion channel transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: ATP4A , ATP4A_HUMAN, ENST00000262623.1, ENST00000262623.2, ENST00000262623.3, NM_000704, O00738, P20648, uc317hca.1, uc317hca.2
UCSC ID: ENST00000262623.4_7
RefSeq Accession: NM_000704.3
Protein: P20648 (aka ATP4A_HUMAN or ATHA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.