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ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 [ Homo sapiens (human) ]

Gene ID: 476, updated on 10-May-2020

Summary

Official Symbol
ATP1A1provided by HGNC
Official Full Name
ATPase Na+/K+ transporting subunit alpha 1provided by HGNC
Primary source
HGNC:HGNC:799
See related
Ensembl:ENSG00000163399 MIM:182310
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
CMT2DD; HOMGSMR2
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]
Expression
Broad expression in kidney (RPKM 278.0), thyroid (RPKM 226.4) and 25 other tissues See more
Orthologs

Genomic context

See ATP1A1 in Genome Data Viewer
Location:
1p13.1
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (116372986..116410259)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (116914802..116948069)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378919 Neighboring gene uncharacterized LOC105378920 Neighboring gene ATP1A1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13778 Neighboring gene RNA, U6 small nuclear 817, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify sodium/potassium-transporting ATPase subunit alpha-1 (ATP1A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify sodium/potassium-transporting ATPase subunit alpha-1 (ATP1A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify sodium/potassium-transporting ATPase subunit alpha-1 (ATP1A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Cellular biotinylated ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1) protein is incorporated into HIV-1 Gag virus-like particles PubMed
gag HIV-1 Gag fractionates with the cellular cytosol markers LC3A/B and the plasma membrane marker Na-K ATPase in 293T cells PubMed
gag Tandem affinity purification and mass spectrometry analysis identify sodium/potassium-transporting ATPase subunit alpha-1 (ATP1A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3285, MGC51750

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP binding IEA
Inferred from Electronic Annotation
more info
 
ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
ankyrin binding IEA
Inferred from Electronic Annotation
more info
 
chaperone binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol 3-kinase binding IEA
Inferred from Electronic Annotation
more info
 
potassium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
sodium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
sodium:potassium-exchanging ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium:potassium-exchanging ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
sodium:potassium-exchanging ATPase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
sodium:potassium-exchanging ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
contributes_to sodium:potassium-exchanging ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
steroid hormone binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cardiac muscle cell action potential involved in contraction TAS
Traceable Author Statement
more info
PubMed 
cell communication by electrical coupling involved in cardiac conduction TAS
Traceable Author Statement
more info
PubMed 
cellular potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular potassium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to steroid hormone stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular sodium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular sodium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
establishment or maintenance of transmembrane electrochemical gradient IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
membrane hyperpolarization IEA
Inferred from Electronic Annotation
more info
 
membrane repolarization IDA
Inferred from Direct Assay
more info
PubMed 
membrane repolarization during cardiac muscle cell action potential IC
Inferred by Curator
more info
PubMed 
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 import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
proton transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of cardiac muscle cell contraction 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
 
relaxation of cardiac muscle TAS
Traceable Author Statement
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to glycoside IDA
Inferred from Direct Assay
more info
PubMed 
sodium ion export across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium ion export across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
sodium ion export across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
T-tubule IGI
Inferred from Genetic Interaction
more info
PubMed 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
caveola IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
endosome IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular vesicle HDA PubMed 
integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
intercalated disc IEA
Inferred from Electronic Annotation
more info
 
lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
melanosome IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
organelle membrane IGI
Inferred from Genetic Interaction
more info
PubMed 
photoreceptor inner segment membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
plasma membrane HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IGI
Inferred from Genetic Interaction
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
sarcolemma ISS
Inferred from Sequence or Structural Similarity
more info
 
sodium:potassium-exchanging ATPase complex IDA
Inferred from Direct Assay
more info
PubMed 
sodium:potassium-exchanging ATPase complex IGI
Inferred from Genetic Interaction
more info
PubMed 
sodium:potassium-exchanging ATPase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
sperm flagellum IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
sodium/potassium-transporting ATPase subunit alpha-1
Names
ATPase, Na+/K+ transporting, alpha 1 polypeptide
Na(+)/K(+) ATPase alpha-1 subunit
Na+/K+ ATPase 1
Na, K-ATPase, alpha-A catalytic polypeptide
Na,K-ATPase alpha-1 subunit
Na,K-ATPase catalytic subunit alpha-A protein
sodium pump subunit alpha-1
sodium-potassium ATPase catalytic subunit alpha-1
sodium-potassium-ATPase, alpha 1 polypeptide
NP_000692.2
NP_001153705.1
NP_001153706.1
XP_016856849.1
XP_016856850.1

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.

Genomic

  1. NG_047036.1 RefSeqGene

    Range
    6060..37590
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000701.8NP_000692.2  sodium/potassium-transporting ATPase subunit alpha-1 isoform a

    See identical proteins and their annotated locations for NP_000692.2

    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
    ENSP00000295598.5, ENST00000295598.10
    Conserved Domains (6) summary
    smart00831
    Location:40114
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    COG4087
    Location:606752
    COG4087; Soluble P-type ATPase [General function prediction only]
    TIGR01106
    Location:301023
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    pfam00122
    Location:134365
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:7991008
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam13246
    Location:427521
    Cation_ATPase; Cation transport ATPase (P-type)
  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/Swiss-Prot
    P05023
    Related
    ENSP00000445306.1, ENST00000537345.5
    Conserved Domains (6) summary
    smart00831
    Location:40114
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    COG4087
    Location:606752
    COG4087; Soluble P-type ATPase [General function prediction only]
    TIGR01106
    Location:301023
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    pfam00122
    Location:134365
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:7991008
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam13246
    Location:427521
    Cation_ATPase; Cation transport ATPase (P-type)
  3. NM_001160234.1NP_001153706.1  sodium/potassium-transporting ATPase subunit alpha-1 isoform d

    See identical proteins and their annotated locations for NP_001153706.1

    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/Swiss-Prot
    P05023
    Related
    ENSP00000358508.4, ENST00000369496.8
    Conserved Domains (6) summary
    smart00831
    Location:983
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    COG4087
    Location:575721
    COG4087; Soluble P-type ATPase [General function prediction only]
    TIGR01106
    Location:1992
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    pfam00122
    Location:103334
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:768977
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam13246
    Location:396490
    Cation_ATPase; Cation transport ATPase (P-type)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    116372986..116410259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001360.1XP_016856849.1  sodium/potassium-transporting ATPase subunit alpha-1 isoform X1

    UniProtKB/Swiss-Prot
    P05023
    Conserved Domains (6) summary
    smart00831
    Location:983
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    COG4087
    Location:575721
    COG4087; Soluble P-type ATPase [General function prediction only]
    TIGR01106
    Location:1992
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    pfam00122
    Location:103334
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:768977
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam13246
    Location:396490
    Cation_ATPase; Cation transport ATPase (P-type)
  2. XM_017001361.1XP_016856850.1  sodium/potassium-transporting ATPase subunit alpha-1 isoform X1

    UniProtKB/Swiss-Prot
    P05023
    Conserved Domains (6) summary
    smart00831
    Location:983
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    COG4087
    Location:575721
    COG4087; Soluble P-type ATPase [General function prediction only]
    TIGR01106
    Location:1992
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    pfam00122
    Location:103334
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:768977
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam13246
    Location:396490
    Cation_ATPase; Cation transport ATPase (P-type)

RNA

  1. XR_002956654.1 RNA Sequence

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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