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ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 [ Homo sapiens (human) ]

Gene ID: 478, updated on 1-Jun-2020

Summary

Official Symbol
ATP1A3provided by HGNC
Official Full Name
ATPase Na+/K+ transporting subunit alpha 3provided by HGNC
Primary source
HGNC:HGNC:801
See related
Ensembl:ENSG00000105409 MIM:182350
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
RDP; AHC2; CAPOS; DYT12; ATP1A1
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 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Expression
Biased expression in brain (RPKM 145.6), heart (RPKM 51.8) and 2 other tissues See more
Orthologs

Genomic context

See ATP1A3 in Genome Data Viewer
Location:
19q13.2
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (41966582..41994230, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42470628..42498428, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100505585 Neighboring gene Rab acceptor 1 Neighboring gene glutamate ionotropic receptor kainate type subunit 5 Neighboring gene Sharpr-MPRA regulatory regions 411/7488 and 4104 Neighboring gene zinc finger protein 574

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC13276

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding NAS
Non-traceable Author Statement
more info
PubMed 
amyloid-beta binding IDA
Inferred from Direct Assay
more info
PubMed 
amyloid-beta binding TAS
Traceable Author Statement
more info
PubMed 
chaperone binding IPI
Inferred from Physical Interaction
more info
PubMed 
ion antiporter activity involved in regulation of presynaptic membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
sodium:potassium-exchanging ATPase activity NAS
Non-traceable Author Statement
more info
PubMed 
steroid hormone binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
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 amyloid-beta ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to steroid hormone stimulus NAS
Non-traceable Author Statement
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 
establishment or maintenance of transmembrane electrochemical gradient IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
neuron projection maintenance IGI
Inferred from Genetic Interaction
more info
PubMed 
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 
proton transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of resting membrane potential TAS
Traceable Author Statement
more info
PubMed 
response to glycoside NAS
Non-traceable Author Statement
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 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
axon IDA
Inferred from Direct Assay
more info
PubMed 
cell IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicle HDA PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron to neuron synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body membrane IC
Inferred by Curator
more info
PubMed 
organelle membrane IGI
Inferred from Genetic Interaction
more info
PubMed 
photoreceptor inner segment ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor inner segment membrane ISS
Inferred from Sequence or Structural Similarity
more info
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
 
sodium:potassium-exchanging ATPase complex IC
Inferred by Curator
more info
PubMed 
sodium:potassium-exchanging ATPase complex IDA
Inferred from Direct Assay
more info
PubMed 
sodium:potassium-exchanging ATPase complex NAS
Non-traceable Author Statement
more info
PubMed 
synapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
sodium/potassium-transporting ATPase subunit alpha-3
Names
ATPase, Na+/K+ transporting, alpha 3 polypeptide
Na(+)/K(+) ATPase alpha(III) subunit
Na(+)/K(+) ATPase alpha-3 subunit
Na+, K+ activated adenosine triphosphatase alpha subunit
Na+/K+ ATPase 3
sodium pump subunit alpha-3
sodium-potassium ATPase catalytic subunit alpha-3
sodium-potassium-ATPase, alpha 3 polypeptide
sodium/potassium-transporting ATPase alpha-3 chain
NP_001243142.1
NP_001243143.1
NP_689509.1

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_008015.1 RefSeqGene

    Range
    5001..32649
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1186

mRNA and Protein(s)

  1. NM_001256213.1NP_001243142.1  sodium/potassium-transporting ATPase subunit alpha-3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, compared to variant 1. The resulting isoform (2) has a different and longer N-terminus, compared to isoform 1.
    Source sequence(s)
    AK223569, AK295078, AK296557, BC009282
    Consensus CDS
    CCDS58663.1
    UniProtKB/Swiss-Prot
    P13637
    UniProtKB/TrEMBL
    Q53ES0
    Related
    ENSP00000437577.1, ENST00000543770.5
    Conserved Domains (1) summary
    TIGR01106
    Location:281024
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
  2. NM_001256214.2NP_001243143.1  sodium/potassium-transporting ATPase subunit alpha-3 isoform 3

    See identical proteins and their annotated locations for NP_001243143.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an additional in-frame segment in the 5' coding region, compared to variant 1. The resulting isoform (3) is longer than isoform 1.
    Source sequence(s)
    AK223569, AK295078, BC009282
    Consensus CDS
    CCDS58664.1
    UniProtKB/Swiss-Prot
    P13637
    UniProtKB/TrEMBL
    Q53ES0
    Related
    ENSP00000444688.1, ENST00000545399.6
    Conserved Domains (1) summary
    TIGR01106
    Location:301026
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
  3. NM_152296.5NP_689509.1  sodium/potassium-transporting ATPase subunit alpha-3 isoform 1

    See identical proteins and their annotated locations for NP_689509.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the predominant transcript and encodes isoform (1).
    Source sequence(s)
    AK223569, AK295078, BC009282, DB482528
    Consensus CDS
    CCDS12594.1
    UniProtKB/Swiss-Prot
    P13637
    UniProtKB/TrEMBL
    Q53ES0
    Related
    ENSP00000498113.1, ENST00000648268.1
    Conserved Domains (1) summary
    TIGR01106
    Location:171013
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit

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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    41966582..41994230 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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