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ATPase, Na⁺/K⁺ transporting, alpha 1

Protein-coding gene in the species Homo sapiens

ATP1A1
Identifiers
Aliases	ATP1A1, ATPase, Na+/K+ transporting, alpha 1, ATPase Na+/K+ transporting subunit alpha 1, CMT2DD, HOMGSMR2
External IDs	OMIM: 182310; MGI: 88105; HomoloGene: 564; GeneCards: ATP1A1; OMA:ATP1A1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p13.1 Start 116,372,668 bp[1] End 116,410,261 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F2.2|3 44.3 cM Start 101,483,535 bp[2] End 101,512,000 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in renal medulla right lobe of thyroid gland left lobe of thyroid gland mucosa of ileum mucosa of transverse colon cerebellar hemisphere right hemisphere of cerebellum human kidney gallbladder islet of Langerhans Top expressed in vestibular membrane of cochlear duct human kidney submandibular gland epithelium of lens left colon parotid gland choroid plexus of fourth ventricle transitional epithelium of urinary bladder duodenum stria vascularis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function steroid hormone binding nucleotide binding chaperone binding protein domain specific binding phosphatase activity ADP binding potassium ion binding sodium ion binding P-type sodium:potassium-exchanging transporter activity metal ion binding phosphatidylinositol 3-kinase binding protein binding ankyrin binding hydrolase activity ATP binding protein kinase binding P-type potassium transmembrane transporter activity Cellular component integral component of membrane extracellular vesicle endosome Golgi apparatus membrane intercalated disc T-tubule melanosome myelin sheath plasma membrane sodium:potassium-exchanging ATPase complex basolateral plasma membrane apical plasma membrane endoplasmic reticulum caveola membrane raft sarcolemma extracellular exosome postsynaptic density protein-containing complex Biological process cellular response to steroid hormone stimulus regulation of cardiac conduction membrane hyperpolarization regulation of sodium ion transport regulation of the force of heart contraction negative regulation of heart contraction sodium ion transport cellular sodium ion homeostasis sodium ion export across plasma membrane cell communication by electrical coupling involved in cardiac conduction response to glycoside ion transport cellular potassium ion homeostasis regulation of blood pressure potassium ion transport positive regulation of heart contraction ion transmembrane transport cellular response to mechanical stimulus regulation of cardiac muscle cell contraction membrane repolarization positive regulation of striated muscle contraction negative regulation of glucocorticoid biosynthetic process membrane repolarization during cardiac muscle cell action potential relaxation of cardiac muscle dephosphorylation potassium ion import across plasma membrane establishment or maintenance of transmembrane electrochemical gradient cardiac muscle cell action potential involved in contraction transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 476 11928 Ensembl ENSG00000163399 ENSMUSG00000033161 UniProt P05023 Q5TC02 Q8VDN2 RefSeq (mRNA) NM_000701 NM_001001586 NM_001160233 NM_001160234 NM_144900 RefSeq (protein) NP_000692 NP_001153705 NP_001153706 NP_659149 Location (UCSC) Chr 1: 116.37 – 116.41 Mb Chr 3: 101.48 – 101.51 Mb PubMed search [3] [4]
Wikidata
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Gastric H+/K+-ATPase, N terminal domain
tfe-induded structure of the n-terminal domain of pig gastric h/k-atpase
Identifiers
Symbol	H-K_ATPase_N
Pfam	PF09040
InterPro	IPR015127
Available protein structures: Pfam   structures / ECOD   PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

Sodium/potassium-transporting ATPase subunit alpha-1 is an enzyme that in humans is encoded by the ATP1A1 gene.^[5]

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na⁺/K⁺-ATPases. Na⁺/K⁺-ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradientsofNa and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitabilityofnerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na⁺/K⁺-ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified.^[5]

In melanocytic cells ATP1A1 gene expression may be regulated by MITF.^[6]

Clinical relevance[edit]

Mutations in this gene have been associated with aldosterone-producing adenomas and secondary hypertension.^[7]

References[edit]

Further reading[edit]

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