U.S. flag

An official website of the United States government

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

Gene ID: 476, updated on 4-Jan-2025

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; AllianceGenome:HGNC:799
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See ATP1A1 in Genome Data Viewer
Location:
1p13.1
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (116373244..116404774)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (116381314..116412844)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (116915866..116947396)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378919 Neighboring gene uncharacterized LOC105378920 Neighboring gene small nucleolar RNA U3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1561 Neighboring gene ATP1A1 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr1:116958386-116958887 Neighboring gene Sharpr-MPRA regulatory region 13778 Neighboring gene RNA, U6 small nuclear 817, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:116968695-116969196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:116969197-116969696 Neighboring gene long intergenic non-protein coding RNA 1762 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:116985590-116985791 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:117013937-117014172 Neighboring gene HNF1 motif-containing MPRA enhancer 99 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:117020893-117021452

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Clone Names

  • MGC3285, MGC51750

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding  
enables ATP hydrolysis activity  
enables P-type sodium:potassium-exchanging transporter activity  
enables P-type sodium:potassium-exchanging transporter activity PubMed 
enables P-type sodium:potassium-exchanging transporter activity PubMed 
enables P-type sodium:potassium-exchanging transporter activity  
enables phosphatase activity  
enables potassium ion binding  
enables protein binding PubMed 
enables protein heterodimerization activity  
enables protein-folding chaperone binding PubMed 
enables sodium ion binding  
enables steroid hormone binding PubMed 
enables transmembrane transporter binding  
Items 1 - 25 of 33
Process Evidence Code Pubs
involved_in cardiac muscle cell action potential involved in contraction PubMed 
involved_in cell communication by electrical coupling involved in cardiac conduction PubMed 
involved_in cellular response to steroid hormone stimulus PubMed 
involved_in establishment or maintenance of transmembrane electrochemical gradient PubMed 
involved_in intracellular potassium ion homeostasis  
involved_in intracellular potassium ion homeostasis PubMed 
involved_in intracellular potassium ion homeostasis  
involved_in intracellular sodium ion homeostasis  
involved_in intracellular sodium ion homeostasis PubMed 
involved_in intracellular sodium ion homeostasis  
involved_in membrane repolarization PubMed 
involved_in membrane repolarization during cardiac muscle cell action potential PubMed 
involved_in negative regulation of glucocorticoid biosynthetic process  
involved_in negative regulation of heart contraction  
involved_in osmosensory signaling pathway  
involved_in positive regulation of heart contraction  
involved_in positive regulation of striated muscle contraction  
involved_in potassium ion import across plasma membrane  
involved_in potassium ion import across plasma membrane PubMed 
involved_in potassium ion import across plasma membrane  
involved_in potassium ion import across plasma membrane  
involved_in proton transmembrane transport  
involved_in proton transmembrane transport PubMed 
involved_in regulation of blood pressure  
involved_in regulation of sodium ion transport  
involved_in regulation of the force of heart contraction  
involved_in relaxation of cardiac muscle PubMed 
involved_in response to glycoside PubMed 
involved_in response to xenobiotic stimulus  
involved_in sodium ion export across plasma membrane  
involved_in sodium ion export across plasma membrane PubMed 
involved_in sodium ion export across plasma membrane  
involved_in sodium ion export across plasma membrane  
Items 1 - 25 of 33
Items 1 - 20 of 28
Component Evidence Code Pubs
located_in Golgi apparatus  
located_in T-tubule PubMed 
located_in apical plasma membrane PubMed 
located_in axon  
located_in basolateral plasma membrane  
located_in endoplasmic reticulum  
located_in extracellular exosome PubMed 
located_in extracellular vesicle PubMed 
located_in lateral plasma membrane PubMed 
located_in melanosome  
located_in membrane  
located_in membrane raft  
located_in organelle membrane PubMed 
located_in photoreceptor inner segment membrane PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane  
located_in postsynaptic density  
part_of protein-containing complex PubMed 
is_active_in sarcolemma  
located_in sarcolemma  
part_of sodium:potassium-exchanging ATPase complex  
part_of sodium:potassium-exchanging ATPase complex PubMed 
part_of sodium:potassium-exchanging ATPase complex PubMed 
part_of sodium:potassium-exchanging ATPase complex PubMed 
part_of sodium:potassium-exchanging ATPase complex  
located_in sperm flagellum PubMed 
Items 1 - 20 of 28

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    B2RBR6, B7Z2T5, B7Z3U6, F5H3A1, P05023, Q16689, Q6LDM4, Q9UCN1, Q9UJ20, Q9UJ21
    UniProtKB/TrEMBL
    B7Z3V1
    Related
    ENSP00000295598.5, ENST00000295598.10
    Conserved Domains (1) summary
    TIGR01106
    Location:301023
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
  2. NM_001160233.2NP_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
    B7Z3V1
    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_001160234.2NP_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/TrEMBL
    B7Z3V1
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    116373244..116404774
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    116381314..116412844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

External link. Please review our privacy policy.