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

Gene ID: 478, updated on 13-Apr-2014
Official Symbol
ATP1A3provided by HGNC
Official Full Name
ATPase, Na+/K+ transporting, alpha 3 polypeptideprovided by HGNC
Primary source
HGNC:801
See related
Ensembl:ENSG00000105409; HPRD:01666; MIM:182350; Vega:OTTHUMG00000137384
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; DYT12
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]
Location :
19q13.31
Sequence :
Chromosome: 19; NC_000019.10 (41966476..41994276, complement)
See ATP1A3 in Epigenomics, MapViewer

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100505585 Neighboring gene Rab acceptor 1 (prenylated) Neighboring gene glutamate receptor, ionotropic, kainate 5 Neighboring gene zinc finger protein 574

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • 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...
  • Insulin secretion, organism-specific biosystem (from KEGG)
    Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
  • 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 "...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • 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...
  • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
    Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
  • Thyroid hormone synthesis, organism-specific biosystem (from KEGG)
    Thyroid hormone synthesis, organism-specific biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
  • Thyroid hormone synthesis, conserved biosystem (from KEGG)
    Thyroid hormone synthesis, conserved biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding NAS
Non-traceable Author Statement
more info
PubMed 
D1 dopamine receptor binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
sodium:potassium-exchanging ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
ATP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
ionotropic glutamate receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
memory IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
visual learning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
axon IEA
Inferred from Electronic Annotation
more info
 
dendritic spine head IEA
Inferred from Electronic Annotation
more info
 
dendritic spine neck IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
nucleus 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
 
sodium:potassium-exchanging ATPase complex IC
Inferred by Curator
more info
PubMed 
synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
sodium/potassium-transporting ATPase subunit alpha-3
Names
sodium/potassium-transporting ATPase subunit alpha-3
Na+/K+ ATPase 3
sodium pump subunit alpha-3
Na(+)/K(+) ATPase alpha-3 subunit
Na(+)/K(+) ATPase alpha(III) subunit
sodium-potassium-ATPase, alpha 3 polypeptide
sodium-potassium ATPase catalytic subunit alpha-3
sodium/potassium-transporting ATPase alpha-3 chain
NP_001243142.1
NP_001243143.1
NP_689509.1

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
    4955..32649
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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, OTTHUMP00000270027, ENST00000543770, OTTHUMT00000268113
    Conserved Domains (6) summary
    TIGR01106
    Location:281024
    Blast Score: 5686
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    smart00831
    Location:41115
    Blast Score: 246
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    COG4087
    Location:607753
    Blast Score: 109
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:136367
    Blast Score: 565
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:8001009
    Blast Score: 345
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam13246
    Location:428522
    Blast Score: 328
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
  2. NM_001256214.1NP_001243143.1  sodium/potassium-transporting ATPase subunit alpha-3 isoform 3

    See proteins identical to 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, DB482528
    Consensus CDS
    CCDS58664.1
    UniProtKB/Swiss-Prot
    P13637
    UniProtKB/TrEMBL
    Q53ES0
    Related
    ENSP00000444688, OTTHUMP00000174457, ENST00000545399, OTTHUMT00000268114
    Conserved Domains (6) summary
    TIGR01106
    Location:301026
    Blast Score: 5685
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    smart00831
    Location:43117
    Blast Score: 246
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    COG4087
    Location:609755
    Blast Score: 109
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:138369
    Blast Score: 564
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:8021011
    Blast Score: 345
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam13246
    Location:430524
    Blast Score: 329
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
  3. NM_152296.4NP_689509.1  sodium/potassium-transporting ATPase subunit alpha-3 isoform 1

    See proteins identical to 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
    ENSP00000302397, OTTHUMP00000174455, ENST00000302102, OTTHUMT00000268107
    Conserved Domains (6) summary
    TIGR01106
    Location:171013
    Blast Score: 5682
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    smart00831
    Location:30104
    Blast Score: 246
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    COG4087
    Location:596742
    Blast Score: 109
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:125356
    Blast Score: 564
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:789998
    Blast Score: 344
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam13246
    Location:417511
    Blast Score: 328
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10

    Range
    41966476..41994276, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258953.1XP_005259010.1  

    Related
    ENSP00000411503, OTTHUMP00000174456, ENST00000441343, OTTHUMT00000268108
    Conserved Domains (6) summary
    TIGR01106
    Location:171005
    Blast Score: 5643
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    smart00831
    Location:30104
    Blast Score: 246
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    COG4087
    Location:596742
    Blast Score: 114
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:125356
    Blast Score: 571
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:789998
    Blast Score: 342
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam13246
    Location:417511
    Blast Score: 330
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit

Alternate HuRef

Genomic

  1. AC_000151.1 Alternate HuRef

    Range
    38902456..38930242, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    42472364..42500045, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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