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    ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide [ Homo sapiens ]

    Gene ID: 476, updated on 19-May-2012

    Summary

    Official Symbol
    ATP1A1provided by HGNC
    Official Full Name
    ATPase, Na+/K+ transporting, alpha 1 polypeptideprovided by HGNC
    Primary source
    HGNC:799
    Locus tag
    RP4-655J12.1
    See related
    Ensembl:ENSG00000163399; HPRD:01662; MIM:182310; Vega:OTTHUMG00000012109
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MGC3285; MGC51750
    Summary
    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 gradients of Na 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 excitability of nerve 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

    Genomic context

    Location :
    1p21
    Sequence :
    Chromosome: 1; NC_000001.10 (116915795..116947396)
    See ATP1A1 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 22, member 15 Neighboring gene mab-21-like 3 (C. elegans) Neighboring gene ATP1A1 opposite strand Neighboring gene uncharacterized LOC100506459 Neighboring gene nucleosome assembly protein 1-like 4 pseudogene 1 Neighboring gene CD58 molecule

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P05023 P35611 ADD1    HPRD  PubMed  
    P05023 P23528 CFL1    HPRD  PubMed  
    P05023 P00533 EGFR    HPRD  PubMed  
    P05023 Q15910 EZH2    HPRD  PubMed  
    P05023 O00168 FXYD1    HPRD  PubMed  
    P05023 P54710 FXYD2    HPRD  PubMed  
    P05023 P58549 FXYD7    HPRD  PubMed  
    P05023 P27361 MAPK3    HPRD  PubMed  
    P05023 Q92597 NDRG1    HPRD  PubMed  
    P05023 P13693 TPT1    HPRD  PubMed  
    BioGRID:106966 BioGRID:107459 CDK9    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106966 BioGRID:117421 COBRA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106966 BioGRID:108446 EZH2    BioGRID  PubMed Two-hybrid 
    BioGRID:106966 BioGRID:111363 FXYD1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106966 BioGRID:115331 HDAC5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106966 BioGRID:114593 HGS    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106966 BioGRID:111580 MAPK1    BioGRID  PubMed Biochemical Activity 
    BioGRID:106966 BioGRID:111581 MAPK3    BioGRID  PubMed Biochemical Activity 
    BioGRID:106966 BioGRID:115669 NDRG1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106966 BioGRID:111564 PRKCA    BioGRID  PubMed Biochemical Activity 
    BioGRID:106966 BioGRID:119572 TH1L    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106966 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106966 BioGRID:113307 WHSC2    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Aldosterone-regulated sodium reabsorption, organism-specific biosystem (from KEGG)
      Aldosterone-regulated sodium reabsorption, organism-specific biosystemSodium transport across the tight epithelia of Na+ reabsorbing tissues such as the distal part of the kidney nephron and colon is the major factor determining total-body Na+ levels, and thus, long-te...
    • Aldosterone-regulated sodium reabsorption, conserved biosystem (from KEGG)
      Aldosterone-regulated sodium reabsorption, conserved biosystemSodium transport across the tight epithelia of Na+ reabsorbing tissues such as the distal part of the kidney nephron and colon is the major factor determining total-body Na+ levels, and thus, long-te...
    • Bile secretion, organism-specific biosystem (from KEGG)
      Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Bile secretion, conserved biosystem (from KEGG)
      Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Carbohydrate digestion and absorption, organism-specific biosystem (from KEGG)
      Carbohydrate digestion and absorption, organism-specific biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
    • Carbohydrate digestion and absorption, conserved biosystem (from KEGG)
      Carbohydrate digestion and absorption, conserved biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Endocrine and other factor-regulated calcium reabsorption, organism-specific biosystem (from KEGG)
      Endocrine and other factor-regulated calcium reabsorption, organism-specific biosystemCalcium (Ca2+) is essential for numerous physiological functions including intracellular signalling processes, neuronal excitability, muscle contraction and bone formation. Therefore, its homeostasis...
    • Endocrine and other factor-regulated calcium reabsorption, conserved biosystem (from KEGG)
      Endocrine and other factor-regulated calcium reabsorption, conserved biosystemCalcium (Ca2+) is essential for numerous physiological functions including intracellular signalling processes, neuronal excitability, muscle contraction and bone formation. Therefore, its homeostasis...
    • Gastric acid secretion, organism-specific biosystem (from KEGG)
      Gastric acid secretion, organism-specific biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Gastric acid secretion, conserved biosystem (from KEGG)
      Gastric acid secretion, conserved biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Ion transport by P-type ATPases, organism-specific biosystem (from REACTOME)
      Ion transport by P-type ATPases, organism-specific biosystemThe P-type ATPases (E1-E2 ATPases) are a large group of evolutionarily related ion pumps that are found in bacteria, archaea and eukaryotes. They are referred to as P-type ATPases because they catal...
    • Mineral absorption, organism-specific biosystem (from KEGG)
      Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Mineral absorption, conserved biosystem (from KEGG)
      Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Pancreatic secretion, organism-specific biosystem (from KEGG)
      Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Pancreatic secretion, conserved biosystem (from KEGG)
      Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Protein digestion and absorption, organism-specific biosystem (from KEGG)
      Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Protein digestion and absorption, conserved biosystem (from KEGG)
      Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Proximal tubule bicarbonate reclamation, organism-specific biosystem (from KEGG)
      Proximal tubule bicarbonate reclamation, organism-specific biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
    • Proximal tubule bicarbonate reclamation, conserved biosystem (from KEGG)
      Proximal tubule bicarbonate reclamation, conserved biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
    • Salivary secretion, organism-specific biosystem (from KEGG)
      Salivary secretion, organism-specific biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
    • Salivary secretion, conserved biosystem (from KEGG)
      Salivary secretion, conserved biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    4-nitrophenylphosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    monovalent inorganic cation transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sodium:potassium-exchanging ATPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    sodium:potassium-exchanging ATPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sodium:potassium-exchanging ATPase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    ATP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    ATP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    negative regulation of glucocorticoid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of heart contraction IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of heart contraction IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of striated muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    potassium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of sodium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of the force of heart contraction IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    sodium ion export IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral to membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane fraction TAS
    Traceable Author Statement
    more info
    PubMed 
    microsome IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     
    sodium:potassium-exchanging ATPase complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    sodium/potassium-transporting ATPase subunit alpha-1
    Names
    sodium/potassium-transporting ATPase subunit alpha-1
    sodium pump 1
    Na+/K+ ATPase 1
    Na,K-ATPase alpha-1 subunit
    sodium pump subunit alpha-1
    Na+, K+ ATPase alpha subunit
    Na(+)/K(+) ATPase alpha-1 subunit
    Na, K-ATPase, alpha-A catalytic polypeptide
    sodium-potassium-ATPase, alpha 1 polypeptide
    Na,K-ATPase catalytic subunit alpha-A protein
    NP_000692.2
    NP_001153705.1
    NP_001153706.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_000701.7NP_000692.2  sodium/potassium-transporting ATPase subunit alpha-1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents use of an alternate promoter and 5' exon, compared to variant 3. The resulting isoform (a) is the same length but has a distinct N-terminus, compared to isoform c.
      Source sequence(s)
      BC050359, DC335233
      Consensus CDS
      CCDS887.1
      UniProtKB/Swiss-Prot
      P05023
      Related
      ENSP00000295598, OTTHUMP00000013935, ENST00000295598, OTTHUMT00000033481
      Conserved Domains (6) summary
      TIGR01106
      Location:301023
      Blast Score: 5373
      ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
      pfam00122
      Location:135366
      Blast Score: 478
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:7991008
      Blast Score: 341
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam13246
      Location:427521
      Blast Score: 306
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      cl02930
      Location:40114
      Blast Score: 234
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      cl11391
      Location:606752
      Blast Score: 106
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    2. NM_001160233.1NP_001153705.1  sodium/potassium-transporting ATPase subunit alpha-1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AK295095, AL136376, BC050359
      Consensus CDS
      CCDS53351.1
      UniProtKB/TrEMBL
      B7Z2T5
      UniProtKB/TrEMBL
      F5H3A1
      UniProtKB/Swiss-Prot
      P05023
      Related
      ENSP00000445306, ENST00000537345
      Conserved Domains (6) summary
      TIGR01106
      Location:301023
      Blast Score: 5372
      ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
      pfam00122
      Location:135366
      Blast Score: 478
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:7991008
      Blast Score: 340
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam13246
      Location:427521
      Blast Score: 306
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      cl02930
      Location:40114
      Blast Score: 234
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      cl11391
      Location:606752
      Blast Score: 106
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    3. NM_001160234.1NP_001153706.1  sodium/potassium-transporting ATPase subunit alpha-1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and uses a downstream start codon compared to variant 3. The resulting isoform (d) has a shorter N-terminus compared to isoform c.
      Source sequence(s)
      AK296362, BC050359
      Consensus CDS
      CCDS53352.1
      UniProtKB/TrEMBL
      B7Z3U6
      UniProtKB/Swiss-Prot
      P05023
      Related
      ENSP00000358508, ENST00000369496
      Conserved Domains (6) summary
      TIGR01106
      Location:1992
      Blast Score: 5362
      ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
      pfam00122
      Location:104335
      Blast Score: 477
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:768977
      Blast Score: 338
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam13246
      Location:396490
      Blast Score: 306
      Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
      cl02930
      Location:983
      Blast Score: 234
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      cl11391
      Location:575721
      Blast Score: 106
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      116915795..116947396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      114773961..114805562
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001001586.1: Suppressed sequence

      Description
      NM_001001586.1: This RefSeq was permanently suppressed because it is predicted to be subject to nonsense-mediated decay and reflects non-consensus splice sites when aligned to the genome.

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