Human Gene ATP1A1 (ENST00000295598.10_9) from GENCODE V47lift37
  Description: ATPase Na+/K+ transporting subunit alpha 1, transcript variant 1 (from RefSeq NM_000701.8)
Gencode Transcript: ENST00000295598.10_9
Gencode Gene: ENSG00000163399.16_13
Transcript (Including UTRs)
   Position: hg19 chr1:116,915,866-116,947,396 Size: 31,531 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr1:116,916,134-116,947,066 Size: 30,933 Coding Exon Count: 23 

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 (chr1:116,915,866-116,947,396)mRNA (may differ from genome)Protein (1023 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AT1A1_HUMAN
DESCRIPTION: RecName: Full=Sodium/potassium-transporting ATPase subunit alpha-1; Short=Na(+)/K(+) ATPase alpha-1 subunit; EC=3.6.3.9; AltName: Full=Sodium pump subunit alpha-1; Flags: Precursor;
FUNCTION: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.
CATALYTIC ACTIVITY: ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In).
SUBUNIT: Interacts with SIK1 (By similarity). Composed of three subunits: alpha (catalytic), beta and gamma. Binds the HLA class II histocompatibility antigen, DR1.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
PTM: Phosphorylation on Tyr-10 modulates pumping activity. Dephosphorylation by protein phosphatase 2A (PP2A) following increases in intracellular sodium, leading to increase catalytic activity (By similarity).
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.
Click here to open Exonprimer with this transcript

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: ATP1A1
Diseases sorted by gene-association score: aldosterone-producing adenoma (9), thyrotoxic periodic paralysis (6), endocrine organ benign neoplasm (5), organ system benign neoplasm (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 399.57 RPKM in Small Intestine - Terminal Ileum
Total median expression: 5336.88 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -136.80268-0.510 Picture PostScript Text
3' UTR -93.20330-0.282 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
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
PF13246 - Cation transport ATPase (P-type)

SCOP Domains:
81653 - Calcium ATPase, transduction domain A
56784 - HAD-like
53448 - Nucleotide-diphospho-sugar transferases
81660 - Metal cation-transporting ATPase, ATP-binding domain N
81665 - Calcium ATPase, transmembrane domain M

ModBase Predicted Comparative 3D Structure on P05023
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005391 sodium:potassium-exchanging ATPase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity
GO:0019901 protein kinase binding
GO:0019904 protein domain specific binding
GO:0030506 ankyrin binding
GO:0030955 potassium ion binding
GO:0031402 sodium ion binding
GO:0043531 ADP binding
GO:0043548 phosphatidylinositol 3-kinase binding
GO:0046872 metal ion binding
GO:0051087 chaperone binding
GO:1990239 steroid hormone binding

Biological Process:
GO:0002026 regulation of the force of heart contraction
GO:0002028 regulation of sodium ion transport
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0006814 sodium ion transport
GO:0006883 cellular sodium ion homeostasis
GO:0008217 regulation of blood pressure
GO:0010107 potassium ion import
GO:0010248 establishment or maintenance of transmembrane electrochemical gradient
GO:0016311 dephosphorylation
GO:0030007 cellular potassium ion homeostasis
GO:0031947 negative regulation of glucocorticoid biosynthetic process
GO:0036376 sodium ion export from cell
GO:0042493 response to drug
GO:0045822 negative regulation of heart contraction
GO:0045823 positive regulation of heart contraction
GO:0045989 positive regulation of striated muscle contraction
GO:0055119 relaxation of cardiac muscle
GO:0060081 membrane hyperpolarization
GO:0071260 cellular response to mechanical stimulus
GO:0071383 cellular response to steroid hormone stimulus
GO:0086002 cardiac muscle cell action potential involved in contraction
GO:0086004 regulation of cardiac muscle cell contraction
GO:0086009 membrane repolarization
GO:0086013 membrane repolarization during cardiac muscle cell action potential
GO:0086064 cell communication by electrical coupling involved in cardiac conduction
GO:0090662 ATP hydrolysis coupled transmembrane transport
GO:1903416 response to glycoside
GO:1990573 potassium ion import across plasma membrane

Cellular Component:
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005890 sodium:potassium-exchanging ATPase complex
GO:0005901 caveola
GO:0014069 postsynaptic density
GO:0014704 intercalated disc
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030315 T-tubule
GO:0032991 macromolecular complex
GO:0042383 sarcolemma
GO:0042470 melanosome
GO:0043209 myelin sheath
GO:0045121 membrane raft
GO:0070062 extracellular exosome
GO:1903561 extracellular vesicle


-  Descriptions from all associated GenBank mRNAs
  LF206263 - JP 2014500723-A/13766: Polycomb-Associated Non-Coding RNAs.
AK296384 - Homo sapiens cDNA FLJ60077 partial cds, highly similar to Sodium/potassium-transporting ATPase alpha-1 chain precursor (EC 3.6.3.9).
BC003077 - Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide, mRNA (cDNA clone MGC:3285 IMAGE:3507685), complete cds.
BC050359 - Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide, mRNA (cDNA clone MGC:51750 IMAGE:6065209), complete cds.
D00099 - Homo sapiens mRNA for Na,K-ATPase alpha-subunit, complete cds.
X04297 - Human mRNA for Na,K-ATPase alpha-subunit.
AK314777 - Homo sapiens cDNA, FLJ95647, highly similar to Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), mRNA.
AK308418 - Homo sapiens cDNA, FLJ98366.
EU176649 - Synthetic construct Homo sapiens clone IMAGE:100011446; FLH180898.01L; RZPDo839F10254D ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1) gene, encodes complete protein.
DQ891882 - Synthetic construct clone IMAGE:100004512; FLH180899.01X; RZPDo839H03134D ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1) gene, encodes complete protein.
MA441840 - JP 2018138019-A/13766: Polycomb-Associated Non-Coding RNAs.
JD336897 - Sequence 317921 from Patent EP1572962.
JD125876 - Sequence 106900 from Patent EP1572962.
JD125877 - Sequence 106901 from Patent EP1572962.
LF352804 - JP 2014500723-A/160307: Polycomb-Associated Non-Coding RNAs.
JD059325 - Sequence 40349 from Patent EP1572962.
MA588381 - JP 2018138019-A/160307: Polycomb-Associated Non-Coding RNAs.
AK295095 - Homo sapiens cDNA FLJ55427 complete cds, highly similar to Sodium/potassium-transporting ATPase alpha-1 chain precursor (EC 3.6.3.9).
AK296362 - Homo sapiens cDNA FLJ52430 complete cds, highly similar to Sodium/potassium-transporting ATPase alpha-1 chain precursor (EC 3.6.3.9).
AB384819 - Synthetic construct DNA, clone: pF1KB3513, Homo sapiens ATP1A1 gene for sodium/potassium-transporting ATPase subunit alpha-1 precursor, complete cds, without stop codon, in Flexi system.
U16798 - Human Na,K-ATPase alpha-1 subunit mRNA, complete cds.
LF352799 - JP 2014500723-A/160302: Polycomb-Associated Non-Coding RNAs.
LF352798 - JP 2014500723-A/160301: Polycomb-Associated Non-Coding RNAs.
LF352797 - JP 2014500723-A/160300: Polycomb-Associated Non-Coding RNAs.
AK293689 - Homo sapiens cDNA FLJ53830 complete cds, highly similar to Sodium/potassium-transporting ATPase alpha-1 chain precursor (EC 3.6.3.9).
AH002616 - Homo sapiens chromosome 1 Na,K-ATPase catalytic subunit alpha-A protein (ATP1A1) mRNA, partial cds.
LF352794 - JP 2014500723-A/160297: Polycomb-Associated Non-Coding RNAs.
J03007 - Human Na+,K+ ATPase alpha-subunit mRNA, partial cds.
LF352793 - JP 2014500723-A/160296: Polycomb-Associated Non-Coding RNAs.
LF352792 - JP 2014500723-A/160295: Polycomb-Associated Non-Coding RNAs.
LF352791 - JP 2014500723-A/160294: Polycomb-Associated Non-Coding RNAs.
LF352789 - JP 2014500723-A/160292: Polycomb-Associated Non-Coding RNAs.
LF352788 - JP 2014500723-A/160291: Polycomb-Associated Non-Coding RNAs.
BC001330 - Homo sapiens, clone IMAGE:3457513, mRNA, partial cds.
LF352787 - JP 2014500723-A/160290: Polycomb-Associated Non-Coding RNAs.
AY946013 - Homo sapiens Na+/K+ transporting ATPase alpha 1 polypeptide (ATP1A1) mRNA, partial cds.
LF352786 - JP 2014500723-A/160289: Polycomb-Associated Non-Coding RNAs.
DQ596392 - Homo sapiens piRNA piR-34458, complete sequence.
LF352785 - JP 2014500723-A/160288: Polycomb-Associated Non-Coding RNAs.
LF352784 - JP 2014500723-A/160287: Polycomb-Associated Non-Coding RNAs.
LF352783 - JP 2014500723-A/160286: Polycomb-Associated Non-Coding RNAs.
JD026115 - Sequence 7139 from Patent EP1572962.
JD020038 - Sequence 1062 from Patent EP1572962.
JD033344 - Sequence 14368 from Patent EP1572962.
LF352782 - JP 2014500723-A/160285: Polycomb-Associated Non-Coding RNAs.
LF352780 - JP 2014500723-A/160283: Polycomb-Associated Non-Coding RNAs.
LF352779 - JP 2014500723-A/160282: Polycomb-Associated Non-Coding RNAs.
LF352778 - JP 2014500723-A/160281: Polycomb-Associated Non-Coding RNAs.
LF352777 - JP 2014500723-A/160280: Polycomb-Associated Non-Coding RNAs.
LF352776 - JP 2014500723-A/160279: Polycomb-Associated Non-Coding RNAs.
LF352774 - JP 2014500723-A/160277: Polycomb-Associated Non-Coding RNAs.
JD534672 - Sequence 515696 from Patent EP1572962.
LF352772 - JP 2014500723-A/160275: Polycomb-Associated Non-Coding RNAs.
JD189044 - Sequence 170068 from Patent EP1572962.
JD520196 - Sequence 501220 from Patent EP1572962.
LF352771 - JP 2014500723-A/160274: Polycomb-Associated Non-Coding RNAs.
MA588376 - JP 2018138019-A/160302: Polycomb-Associated Non-Coding RNAs.
MA588375 - JP 2018138019-A/160301: Polycomb-Associated Non-Coding RNAs.
MA588374 - JP 2018138019-A/160300: Polycomb-Associated Non-Coding RNAs.
MA588371 - JP 2018138019-A/160297: Polycomb-Associated Non-Coding RNAs.
MA588370 - JP 2018138019-A/160296: Polycomb-Associated Non-Coding RNAs.
MA588369 - JP 2018138019-A/160295: Polycomb-Associated Non-Coding RNAs.
MA588368 - JP 2018138019-A/160294: Polycomb-Associated Non-Coding RNAs.
MA588366 - JP 2018138019-A/160292: Polycomb-Associated Non-Coding RNAs.
MA588365 - JP 2018138019-A/160291: Polycomb-Associated Non-Coding RNAs.
MA588364 - JP 2018138019-A/160290: Polycomb-Associated Non-Coding RNAs.
MA588363 - JP 2018138019-A/160289: Polycomb-Associated Non-Coding RNAs.
MA588362 - JP 2018138019-A/160288: Polycomb-Associated Non-Coding RNAs.
MA588361 - JP 2018138019-A/160287: Polycomb-Associated Non-Coding RNAs.
MA588360 - JP 2018138019-A/160286: Polycomb-Associated Non-Coding RNAs.
MA588359 - JP 2018138019-A/160285: Polycomb-Associated Non-Coding RNAs.
MA588357 - JP 2018138019-A/160283: Polycomb-Associated Non-Coding RNAs.
MA588356 - JP 2018138019-A/160282: Polycomb-Associated Non-Coding RNAs.
MA588355 - JP 2018138019-A/160281: Polycomb-Associated Non-Coding RNAs.
MA588354 - JP 2018138019-A/160280: Polycomb-Associated Non-Coding RNAs.
MA588353 - JP 2018138019-A/160279: Polycomb-Associated Non-Coding RNAs.
MA588351 - JP 2018138019-A/160277: Polycomb-Associated Non-Coding RNAs.
MA588349 - JP 2018138019-A/160275: Polycomb-Associated Non-Coding RNAs.
MA588348 - JP 2018138019-A/160274: Polycomb-Associated Non-Coding RNAs.

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

Protein P05023 (Reactome details) participates in the following event(s):

R-HSA-936897 ATP1A:ATP1B:FXYD exchanges Na+ for K+
R-HSA-936837 Ion transport by P-type ATPases
R-HSA-5578775 Ion homeostasis
R-HSA-983712 Ion channel transport
R-HSA-5576891 Cardiac conduction
R-HSA-382551 Transport of small molecules
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: AT1A1_HUMAN, B2RBR6, B7Z2T5, B7Z3U6, ENST00000295598.1, ENST00000295598.2, ENST00000295598.3, ENST00000295598.4, ENST00000295598.5, ENST00000295598.6, ENST00000295598.7, ENST00000295598.8, ENST00000295598.9, F5H3A1, NM_000701, P05023, Q16689, Q6LDM4, Q9UCN1, Q9UJ20, Q9UJ21, uc317lmn.1, uc317lmn.2
UCSC ID: ENST00000295598.10_9
RefSeq Accession: NM_000701.8
Protein: P05023 (aka AT1A1_HUMAN or A1A1_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.