ATP1A1 Gene (Protein Coding)

ATPase Na+/K+ Transporting Subunit Alpha 1

GC01P116372
GIFtS:
51
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... See more...

Aliases for ATP1A1 Gene

Aliases for ATP1A1 Gene

  • ATPase Na+/K+ Transporting Subunit Alpha 1 2 3 5
  • Sodium/Potassium-Transporting ATPase Subunit Alpha-1 2 3 4
  • Sodium Pump Subunit Alpha-1 2 3 4
  • Sodium-Potassium ATPase Catalytic Subunit Alpha-1 2 3
  • ATPase, Na+/K+ Transporting, Alpha 1 Polypeptide 2 3
  • Na(+)/K(+) ATPase Alpha-1 Subunit 3 4
  • Na,K-ATPase Catalytic Subunit Alpha-A Protein 3
  • Sodium-Potassium-ATPase, Alpha 1 Polypeptide 3
  • Na, K-ATPase, Alpha-A Catalytic Polypeptide 3
  • Na,K-ATPase Alpha-1 Subunit 3
  • Na+/K+ ATPase 1 3
  • EC 7.2.2.13 4
  • EC 3.6.3.9 51
  • HOMGSMR2 3
  • EC 3.6.3 51
  • CMT2DD 3
  • ATP1A1 5

External Ids for ATP1A1 Gene

Previous GeneCards Identifiers for ATP1A1 Gene

  • GC01P117418
  • GC01P115798
  • GC01P116063
  • GC01P116262
  • GC01P116627
  • GC01P116717
  • GC01P116915
  • GC01P114773

Summaries for ATP1A1 Gene

Entrez Gene Summary for ATP1A1 Gene

  • 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]

GeneCards Summary for ATP1A1 Gene

ATP1A1 (ATPase Na+/K+ Transporting Subunit Alpha 1) is a Protein Coding gene. Diseases associated with ATP1A1 include Charcot-Marie-Tooth Disease, Axonal, Type 2Dd and Hypomagnesemia, Seizures, And Mental Retardation 2. Among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and cGMP-PKG signaling pathway. Gene Ontology (GO) annotations related to this gene include nucleotide binding and protein domain specific binding. An important paralog of this gene is ATP1A3.

UniProtKB/Swiss-Prot Summary for ATP1A1 Gene

  • This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.

Tocris Summary for ATP1A1 Gene

  • The Na+/K+ ATPase is a membrane protein that is composed of two subunits - alpha and beta. The pump maintains an essential electrochemical gradient within cells through the active transport of sodium (Na+) and potassium (K+) ions.

Gene Wiki entry for ATP1A1 Gene

Additional gene information for ATP1A1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP1A1 Gene

Genomics for ATP1A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ATP1A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP1A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP1A1

Top Transcription factor binding sites by QIAGEN in the ATP1A1 gene promoter:
  • aMEF-2
  • E47
  • GATA-1
  • NF-1
  • p53
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Tal-1

Genomic Locations for ATP1A1 Gene

Latest Assembly
chr1:116,372,668-116,410,261
(GRCh38/hg38)
Size:
37,594 bases
Orientation:
Plus strand

Previous Assembly
chr1:116,915,866-116,947,396
(GRCh37/hg19 by Entrez Gene)
Size:
31,531 bases
Orientation:
Plus strand

chr1:116,915,290-116,952,883
(GRCh37/hg19 by Ensembl)
Size:
37,594 bases
Orientation:
Plus strand

Genomic View for ATP1A1 Gene

Genes around ATP1A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP1A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP1A1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ATP1A1 Gene

Proteins for ATP1A1 Gene

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  • Protein details for ATP1A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05023-AT1A1_HUMAN
    Recommended name:
    Sodium/potassium-transporting ATPase subunit alpha-1
    Protein Accession:
    P05023
    Secondary Accessions:
    • B2RBR6
    • B7Z2T5
    • B7Z3U6
    • F5H3A1
    • Q16689
    • Q6LDM4
    • Q9UCN1
    • Q9UJ20
    • Q9UJ21

    Protein attributes for ATP1A1 Gene

    Size:
    1023 amino acids
    Molecular mass:
    112896 Da
    Quaternary structure:
    • The sodium/potassium-transporting ATPase is composed of a catalytic alpha subunit, an auxiliary non-catalytic beta subunit and an additional regulatory subunit. Interacts with regulatory subunit FXYD1 (By similarity). Interacts with regulatory subunit FXYD3 (PubMed:21454534). Interacts with SIK1 (By similarity). Binds the HLA class II histocompatibility antigen DR1 (PubMed:1380674). Interacts with SLC35G1 and STIM1 (PubMed:22084111). Interacts with CLN3; this interaction regulates the sodium/potassium-transporting ATPase complex localization at the plasma membrane (Probable).
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for ATP1A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP1A1 Gene

Protein Expression for ATP1A1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ATP1A1 Gene

P05023:
  • LLWIGAILCF
  • AVETLGS
  • DKLVNERLIS
  • ELHRKYGTDL
  • PVSQVNPR
  • AYGQIGMIQALGGFF
  • PLETRNIA
  • VAGDASESALLKCIEL
  • HTEIVFARTSPQQKL
  • SSLTGES
  • DHKLSLDEL
  • NPLETRNI
  • TILCIDLGTD
  • LIFVYDE
  • WDDRWINDVEDSYGQQWT
  • GCKVDNSSLTGESEPQTRSPD
  • DDHKLSL
  • AVIFLIGIIVANVPEGLLATVTVCLTLTAKRMA
  • QGMKNKILIFGL
  • PADLRII
  • FFILSLIL
  • GKEQPLDEE
  • MVTGDHPITAKAIAKGVGIIS
  • GRDKYEP
  • SIVTGVEEGRLIFDNLKK
  • GDRIPAD
  • GTARGIV
  • ALVIRNG
  • ESDIMKR
  • ADIGVAMG
  • KNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWF
  • LASGLEGG
  • YDEVRKLI
  • LTPPPTTPEW
  • WTYEQRK
  • PRNPKTD
  • ITGVAVF
  • HGSDLKD
  • IVVVQWADL
  • PAISLAYE
  • RKYGTDLSRGLT
  • DKTGTLT
  • LVMKGAPERILDRCS
  • SMIDPPRAAVPDAV
  • VNPRDAKA
  • YTLTSNIPEI
  • RKLIIRR
  • VALRMYP
  • VMKGAPERIL
  • VFARTSPQQKL
  • GKEQPLD
  • ICKTRRNS
  • QLFGGFS
  • TTENQSG
  • DDNFASI
  • GRIATLASG
  • VGIISEG
  • EIEHFIH
  • PFNSTNK
  • ETALAAFL
  • NAYLELGG
  • LVMKGAPER
  • KSSKIMESF
  • DNLYLGVVL
  • IIVANVPEGLLATVTV
  • PADLRIIS
  • LPDEQFPEGFQFD
  • TVMGRIA
  • GSDVSKQAADMILLDDNFASIVTGVEEGR
  • AKSSKIM
  • LTAKRMA
  • AENGFLP
  • WWFCAFPYS
  • SMIDPPR
  • FDTDDVNF
  • GGFFTYFVI
  • TGDHPITA
  • VEFTCHT
  • FQQGMKN
  • VPQQALV
  • GPNALTPP
  • AADMILLDDNF
  • IPLPLGT
  • DELKKEV
  • LKDMTSE
  • FFSTNCV
  • RNGEKMSINAE
  • LGGLGERVLGFC
  • LCNRAVF
  • DNQIHEADTTE
  • VAVTGDGVNDSPALKKADIG
  • EDSYGQQWT
  • RDGPNAL
  • GDLVEVKGGDR
  • KNCLVKNLEAV
  • VVGDLVE
  • KTRRNSVFQQG
  • TCHTAFF
  • LRMYPLK
  • EIPFNSTNKYQ
  • GFFTYFVILAENGF
  • ALLKCIELCCGSV
  • KCRSAGIKV

Post-translational modifications for ATP1A1 Gene

  • Phosphorylation on Tyr-10 modulates pumping activity. Phosphorylation of Ser-943 by PKA modulates the response of ATP1A1 to PKC. Dephosphorylation by protein phosphatase 2A (PP2A) following increases in intracellular sodium, leading to increase catalytic activity (By similarity).
  • Ubiquitination at Lys45, Lys54, Lys177, Lys212, Lys444, Lys468, Lys476, Lys487, Lys494, Lys508, Lys671, Lys683, and Lys1019
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP1A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

Domains & Families for ATP1A1 Gene

Gene Families for ATP1A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ATP1A1 Gene

InterPro:
Blocks:
  • ATPase, E1-E2 type
  • Cation transporting ATPase, C-terminal
  • Sodium/potassium-transporting ATPase signature
  • E1-E2 ATPase-associated region
ProtoNet:

Suggested Antigen Peptide Sequences for ATP1A1 Gene

GenScript: Design optimal peptide antigens:
  • Sodium pump subunit alpha-1 (AT1A1_HUMAN)
  • cDNA FLJ52430, highly similar to Sodium/potassium-transporting ATPase alpha-1 chain (EC 3.6.3.9) (B7Z3U6_HUMAN)
  • ATP1A1 protein (Q13818_HUMAN)
  • Na+/K+ transporting ATPase alpha 1 polypeptide (Q58I23_HUMAN)
  • ATPase, Na+/K+ transporting, alpha 1 polypeptide (Q5TC05_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05023

UniProtKB/Swiss-Prot:

AT1A1_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
genes like me logo Genes that share domains with ATP1A1: view

Function for ATP1A1 Gene

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  6. Cell Lines for research

Molecular function for ATP1A1 Gene

UniProtKB/Swiss-Prot Function:
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate; Xref=Rhea:RHEA:18353, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29101, ChEBI:CHEBI:29103, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.13;.
GENATLAS Biochemistry:
ATPase,Na+K+,alpha 1 polypeptide

Enzyme Numbers (IUBMB) for ATP1A1 Gene

Phenotypes From GWAS Catalog for ATP1A1 Gene

Gene Ontology (GO) - Molecular Function for ATP1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005391 sodium:potassium-exchanging ATPase activity IBA,ISS --
GO:0005515 protein binding IPI 11027149
GO:0005524 ATP binding ISS --
GO:0008556 potassium-transporting ATPase activity IEA --
genes like me logo Genes that share ontologies with ATP1A1: view
genes like me logo Genes that share phenotypes with ATP1A1: view

Human Phenotype Ontology for ATP1A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP1A1 Gene

MGI Knock Outs for ATP1A1:

Animal Models for research

  • Taconic Biosciences Mouse Models for ATP1A1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP1A1

No data available for Transcription Factor Targets and HOMER Transcription for ATP1A1 Gene

Localization for ATP1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP1A1 Gene

Cell membrane, sarcolemma. Multi-pass membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269 PubMed:17081065}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP1A1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
endoplasmic reticulum 4
endosome 3
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ATP1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005886 plasma membrane TAS --
GO:0005890 sodium:potassium-exchanging ATPase complex TAS,ISS --
genes like me logo Genes that share ontologies with ATP1A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP1A1 Gene

Pathways & Interactions for ATP1A1 Gene

genes like me logo Genes that share pathways with ATP1A1: view

Pathways by source for ATP1A1 Gene

1 BioSystems pathway for ATP1A1 Gene
1 GeneGo (Thomson Reuters) pathway for ATP1A1 Gene
  • Development_Leptin signaling via PI3K-dependent pathway
2 Qiagen pathways for ATP1A1 Gene
  • Aldosterone Signaling in Epithelial Cells
  • Hepatic ABC Transporters
1 Cell Signaling Technology pathway for ATP1A1 Gene

SIGNOR curated interactions for ATP1A1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ATP1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002026 regulation of the force of heart contraction IEA --
GO:0002028 regulation of sodium ion transport ISS --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
genes like me logo Genes that share ontologies with ATP1A1: view

Drugs & Compounds for ATP1A1 Gene

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(53) Drugs for ATP1A1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ouabain Approved Pharma Target, inhibitor, binder Na+/K+ ATPase inhibitor 0
Digoxin Approved Pharma Target, inhibitor Na+/K+ ATPase inhibitor 187
Acetyldigitoxin Approved Pharma Target, inhibitor 0
Almitrine Approved Pharma Target, binder 3
Bepridil Approved, Withdrawn Pharma Target, inhibitor, blocker 0

(2) Additional Compounds for ATP1A1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
 7440-23-5

(4) Tocris Compounds for ATP1A1 Gene

Compound Action Cas Number
Digoxin Na+/K+ ATPase inhibitor 20830-75-5
Lithium carbonate Mood stabilizer; inhibits Na+/K+ ATPase pump activity 554-13-2
Ouabain Na+/K+ ATPase inhibitor 630-60-4
Rostafuroxin Na+/K+ ATPase modulator; antihypertensive agent 156722-18-8

(18) ApexBio Compounds for ATP1A1 Gene

Compound Action Cas Number
ARL 67156 trisodium salt ecto-ATPase inhibitor 1021868-83-6
Cyclopiazonic acid 18172-33-3
Enterostatin 117830-79-2
Istaroxime Na+/K+ ATPase inhibitor 203737-93-3
Istaroxime hydrochloride Inhibitor of Na+/K+ ATPase 374559-48-5
K 858 72926-24-0
Lansoprazole sodium PPI/cytochrome P450 inhibitor 226904-00-3
Lithium carbonate 554-13-2
ML 240 1346527-98-7
MYK-461 inhibits adenosine triphosphatase activity
Ochratoxin A 303-47-9
Paprotrain 57046-73-8
Paxilline 57186-25-1
POM 1 12141-67-2
PSB 06126 1052089-16-3
PSB 069 78510-31-3
SCH 28080 76081-98-6
Thapsigargin 67526-95-8
genes like me logo Genes that share compounds with ATP1A1: view

Drug products for research

Transcripts for ATP1A1 Gene

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mRNA/cDNA for ATP1A1 Gene

4 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP1A1

Alternative Splicing Database (ASD) splice patterns (SP) for ATP1A1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ·
SP1: - -
SP2: - -
SP3: - -
SP4: - - -
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 16c ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25
SP1: - -
SP2: - - - - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ATP1A1 Gene

GeneLoc Exon Structure for
ATP1A1

Expression for ATP1A1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP1A1 Gene

mRNA expression in normal human tissues for ATP1A1 Gene
mRNA expression by GTEx for ATP1A1 GenemRNA expression by BioGPS for ATP1A1 Gene

Protein differential expression in normal tissues from HIPED for ATP1A1 Gene

This gene is overexpressed in Frontal cortex (11.2), Nasal epithelium (7.9), and Brain (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP1A1 Gene



Protein tissue co-expression partners for ATP1A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP1A1

SOURCE GeneReport for Unigene cluster for ATP1A1 Gene:

Hs.371889

Evidence on tissue expression from TISSUES for ATP1A1 Gene

  • Nervous system(5)
  • Skin(5)
  • Intestine(4.8)
  • Eye(4.8)
  • Liver(4.7)
  • Kidney(4.6)
  • Pancreas(4.4)
  • Lung(4.4)
  • Stomach(3.4)
  • Adrenal gland(3.3)
  • Blood(3.2)
  • Thyroid gland(3)
  • Heart(3)
  • Muscle(2.8)
  • Bone(2.6)
  • Gall bladder(2.4)
  • Spleen(2.1)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with ATP1A1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP1A1 Gene

Orthologs for ATP1A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP1A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ATP1A1 30 31
  • 99.54 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia mdo-mir-7282 31
  • 97 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 93 (a)
 OneToMany
-- 31
  • 58 (a)
 OneToMany
-- 31
  • 56 (a)
 OneToMany
-- 31
  • 55 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia ATP1A1 30 31
  • 90.96 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ATP1A1 30 31
  • 89.88 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Atp1a1 30 17 31
  • 89.28 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Atp1a1 30
  • 88.95 (n)
Chicken
(Gallus gallus)
 Aves ATP1A1 30 31
  • 81.06 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ATP1A1 31
  • 93 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia atp1a1 30
  • 79.24 (n)
MGC76277 30
Zebrafish
(Danio rerio)
 Actinopterygii atp1a1b 31
  • 88 (a)
 OneToMany
atp1a1a.5 31
  • 79 (a)
 OneToMany
atp1a1a.2 31
  • 79 (a)
 OneToMany
atp1a1a.1 30 31
  • 77.45 (n)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Atpalpha 31 32
  • 74 (a)
 OneToMany
CG17923 32
  • 62 (a)
CG3701 32
  • 30 (a)
Worm
(Caenorhabditis elegans)
 Secernentea eat-6 31 32
  • 74 (a)
 OneToMany
C02E7.1 32
  • 35 (a)
Y105E8A.12 32
  • 31 (a)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ENA5 31
  • 27 (a)
 ManyToMany
ENA1 31
  • 27 (a)
 ManyToMany
ENA2 31
  • 27 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 67 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.5338 30
Species where no ortholog for ATP1A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ATP1A1 Gene

ENSEMBL:
Gene Tree for ATP1A1 (if available)
TreeFam:
Gene Tree for ATP1A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP1A1: view image

Paralogs for ATP1A1 Gene

Paralogs for ATP1A1 Gene

(6) SIMAP similar genes for ATP1A1 Gene using alignment to 7 proteins:

  • AT1A1_HUMAN
  • L0R4U4_HUMAN
  • Q13818_HUMAN
  • Q58I23_HUMAN
  • Q5TC01_HUMAN
  • Q5TC02_HUMAN
  • Q5TC05_HUMAN
genes like me logo Genes that share paralogs with ATP1A1: view

Variants for ATP1A1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP1A1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
872433 Likely Benign: not provided 116,398,991(+) C/T
NM_000701.8(ATP1A1):c.2355C>T (p.Pro785=) 		SYNONYMOUS
931627 Uncertain Significance: Hypomagnesemia, seizures, and mental retardation 2 116,399,513(+) C/T
NM_000701.8(ATP1A1):c.2542C>T (p.Arg848Trp) 		MISSENSE
931678 Uncertain Significance: Hypomagnesemia, seizures, and mental retardation 2 116,374,250(+) T/A
NM_000701.8(ATP1A1):c.12+727T>A 		INTRON
992402 Uncertain Significance: Hypomagnesemia, seizures, and mental retardation 2 116,396,627(+) C/G
NM_000701.8(ATP1A1):c.1866C>G (p.Ile622Met) 		MISSENSE
995868 Likely Pathogenic: Charcot-marie-tooth disease, axonal, type 2DD 116,401,219(+) CTGTAAGACCAG/C
NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs) 		FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP1A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ATP1A1 Gene

Variant ID Type Subtype PubMed ID
nsv2533 CNV insertion 18451855

Variation tolerance for ATP1A1 Gene

Residual Variation Intolerance Score: 4.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.17; 23.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP1A1 Gene

Human Gene Mutation Database (HGMD)
ATP1A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP1A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP1A1 Gene

Disorders for ATP1A1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for ATP1A1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, axonal, type 2dd
  • cmt2dd
hypomagnesemia, seizures, and mental retardation 2
  • homgsmr2
charcot-marie-tooth disease
  • cmt - charcot-marie-tooth disease
tooth disease
  • teeth disease
parastremmatic dwarfism
  • parastremmatic dysplasia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AT1A1_HUMAN
  • Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269 PubMed:29499166}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Hypomagnesemia, seizures, and mental retardation 2 (HOMGSMR2) [MIM:618314]: An autosomal dominant disease characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant intellectual disability. {ECO:0000269 PubMed:30388404}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ATP1A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ATP1A1: view

No data available for Genatlas for ATP1A1 Gene

Publications for ATP1A1 Gene

  1. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. (PMID: 29499166) Lassuthova P ā€¦ Zuchner S (American journal of human genetics 2018) 3 4 74
  2. Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. (PMID: 30388404) Schlingmann KP ā€¦ Konrad M (American journal of human genetics 2018) 3 4 74
  3. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. (PMID: 16430714) Kung AW ā€¦ Chan V (Clinical endocrinology 2006) 3 23 41
  4. Characterization and quantification of full-length and truncated Na,K-ATPase alpha 1 and beta 1 RNA transcripts expressed in human retinal pigment epithelium. (PMID: 7536695) Ruiz A ā€¦ Bok D (Gene 1995) 3 4 23
  5. The human Na, K-ATPase alpha 1 gene: characterization of the 5'-flanking region and identification of a restriction fragment length polymorphism. (PMID: 1970326) Shull MM ā€¦ Lingrel JB (Genomics 1990) 3 4 23

ExternalLinks

View latest publications for ATP1A1 gene in Mastermind

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