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Aliases for ATP1A1 Gene

Aliases for ATP1A1 Gene

  • ATPase Na+/K+ Transporting Subunit Alpha 1 2 3 5
  • Sodium Pump Subunit Alpha-1 2 4
  • EC 3.6.3.9 4 61
  • Sodium/Potassium-Transporting ATPase Subunit Alpha-1 2
  • Sodium-Potassium ATPase Catalytic Subunit Alpha-1 2
  • ATPase, Na+/K+ Transporting, Alpha 1 Polypeptide 2
  • Na(+)/K(+) ATPase Alpha-1 Subunit 4
  • EC 3.6.3 61

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 Thyrotoxic Periodic Paralysis and Endocrine Organ Benign Neoplasm. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Diuretics Pathway, Pharmacodynamics. 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 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

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP1A1 Gene

Genomics for ATP1A1 Gene

Regulatory Elements for ATP1A1 Gene

Enhancers for ATP1A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G116491 1.9 FANTOM5 Ensembl ENCODE dbSUPER 16 +123.5 123483 7.5 HDGF CREB3L1 DMAP1 YY1 TCF12 GATA2 ZNF143 FOS REST ZNF592 CD58 ATP1A1 ENSG00000224950 ATP1A1-AS1 LINC01762
GH01G116555 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.5 +186.0 185970 6.3 HDGF PKNOX1 FOXA2 WRNIP1 BRCA1 ZNF2 TCF12 ZNF121 ZNF143 ZNF207 CD58 ATP1A1 CD2 CD101 GC01P116556 MIR548AC
GH01G116488 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.9 +117.5 117500 3.4 FOXA2 ATF1 MLX ARID4B DMAP1 GATA2 FOS JUNB MIER2 PPARG CD58 ATP1A1 ATP1A1-AS1 ENSG00000224950 LINC01762
GH01G116481 1.5 Ensembl ENCODE dbSUPER 10.8 +111.4 111375 4.6 HDGF FOXA2 MLX ARNT ARID4B ZNF48 GATA2 ZNF143 FOS MXD4 ATP1A1-AS1 ATP1A1 CASQ2 TRIM45 LINC01762 ENSG00000224950
GH01G116138 1.3 Ensembl ENCODE 10.8 -232.9 -232900 1.0 HDGF ARNT ZFP64 ARID4B DMAP1 ZNF2 SLC30A9 ZNF143 ZNF548 DEK ATP1A1 SLC22A15 MAB21L3 LOC105378918 LINC01779
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP1A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP1A1 Gene

Chromosome:
1
Start:
116,372,185 bp from pter
End:
116,410,261 bp from pter
Size:
38,077 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 StructureGene Density

RefSeq DNA sequence for ATP1A1 Gene

Proteins for ATP1A1 Gene

  • 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:
    • Interacts with SIK1 (By similarity). Composed of three subunits: alpha (catalytic), beta and gamma. Binds the HLA class II histocompatibility antigen, DR1. Interacts with SLC35G1 and STIM1.

    Alternative splice isoforms for ATP1A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP1A1 Gene

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, Lys444, posLast=468468, posLast=476476, Lys494, Lys508, Lys671, Lys683, and Lys1019
  • Modification sites at PhosphoSitePlus

Domains & Families for ATP1A1 Gene

Gene Families for ATP1A1 Gene

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

Molecular function for ATP1A1 Gene

GENATLAS Biochemistry:
ATPase,Na+K+,alpha 1 polypeptide
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In).
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.

Enzyme Numbers (IUBMB) for ATP1A1 Gene

Gene Ontology (GO) - Molecular Function for ATP1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005391 contributes_to sodium:potassium-exchanging ATPase activity ISS,TAS --
GO:0005515 protein binding IPI 11027149
GO:0005524 ATP binding ISS --
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity IEA --
genes like me logo Genes that share ontologies with ATP1A1: view
genes like me logo Genes that share phenotypes with ATP1A1: view

Animal Models for ATP1A1 Gene

MGI Knock Outs for ATP1A1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP1A1

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP1A1 Gene

Localization for ATP1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP1A1 Gene

Cell membrane; 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 5
endoplasmic reticulum 3
golgi apparatus 3
endosome 2
nucleus 1
cytosol 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,IEA --
GO:0005794 Golgi apparatus ISS,IEA --
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

Pathways & Interactions for ATP1A1 Gene

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

Pathways by source for ATP1A1 Gene

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,IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
genes like me logo Genes that share ontologies with ATP1A1: view

No data available for SIGNOR curated interactions for ATP1A1 Gene

Drugs & Compounds for ATP1A1 Gene

(43) 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 binder, Target, inhibitor 0
Acetyldigitoxin Approved Pharma inhibitor, Target 0
Almitrine Approved Pharma binder, Target 0
Bepridil Approved, Withdrawn Pharma Pore Blocker, blocker, Target, inhibitor 0
Deslanoside Approved Pharma binder, Target, inhibitor 0

(5) Additional Compounds for ATP1A1 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Aluminum
  • Al
  • Alloy
  • ALN
  • Alugel
  • Alum
7429-90-5
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
sodium
  • Sodium
  • Sodium ion
7440-23-5
PF 3716556
928774-43-0

(4) Tocris Compounds for ATP1A1 Gene

Compound Action Cas Number
Lansoprazole H+,K+-ATPase inhibitor 103577-45-3
Omeprazole H+,K+-ATPase inhibitor 73590-58-6
PF 3716556 Selective H+,K+-ATPase inhibitor 928774-43-0
SCH 28080 H+,K+-ATPase inhibitor 76081-98-6

(19) ApexBio Compounds for ATP1A1 Gene

Compound Action Cas Number
20-HETE Vasoconstrictor in renal and cerebral vasculature 79551-86-3
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

Transcripts for ATP1A1 Gene

Unigene Clusters for ATP1A1 Gene

ATPase, Na+/K+ transporting, alpha 1 polypeptide:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
ATP1A1

Expression for ATP1A1 Gene

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



Protein tissue co-expression partners for ATP1A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP1A1 Gene:

ATP1A1

SOURCE GeneReport for Unigene cluster for ATP1A1 Gene:

Hs.371889

Evidence on tissue expression from TISSUES for ATP1A1 Gene

  • Skin(5)
  • Nervous system(5)
  • Eye(4.8)
  • Intestine(4.8)
  • Liver(4.7)
  • Kidney(4.5)
  • Pancreas(4.3)
  • Lung(4.2)
  • Adrenal gland(3.2)
  • Stomach(3)
  • Blood(2.9)
  • Thyroid gland(2.6)
  • Heart(2.5)
  • Gall bladder(2.4)
  • Muscle(2.2)
  • Bone(2)
genes like me logo Genes that share expression patterns with ATP1A1: view

Primer Products

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 34 35
  • 99.54 (n)
oppossum
(Monodelphis domestica)
Mammalia mdo-mir-7282 35
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 93 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
-- 35
  • 56 (a)
OneToMany
-- 35
  • 55 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ATP1A1 34 35
  • 90.96 (n)
cow
(Bos Taurus)
Mammalia ATP1A1 34 35
  • 89.88 (n)
mouse
(Mus musculus)
Mammalia Atp1a1 34 16 35
  • 89.28 (n)
rat
(Rattus norvegicus)
Mammalia Atp1a1 34
  • 88.95 (n)
chicken
(Gallus gallus)
Aves ATP1A1 34 35
  • 81.06 (n)
lizard
(Anolis carolinensis)
Reptilia ATP1A1 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp1a1 34
  • 79.24 (n)
MGC76277 34
zebrafish
(Danio rerio)
Actinopterygii atp1a1b 35
  • 88 (a)
OneToMany
atp1a1a.2 35
  • 79 (a)
OneToMany
atp1a1a.5 35
  • 79 (a)
OneToMany
atp1a1a.1 35 34
  • 77.45 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Atpalpha 36 35
  • 76 (a)
CG17923 36
  • 62 (a)
CG3701 36
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea eat-6 36 35
  • 73 (a)
C02E7.1 36
  • 35 (a)
Y105E8A.12 36
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENA1 35
  • 27 (a)
ManyToMany
ENA2 35
  • 27 (a)
ManyToMany
ENA5 35
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 67 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5338 34
Species where no ortholog for ATP1A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for ATP1A1 Gene

Paralogs for ATP1A1 Gene

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

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

Variants for ATP1A1 Gene

Sequence variations from dbSNP and Humsavar for ATP1A1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs11540945 Pathogenic 116,387,415(+) GTTAC(G/T)GTGGA reference, missense
rs724160008 Pathogenic 116,387,403(+) GGGGT(-/TCTCAATGTTACTGT)GGATT cds-indel
rs724160010 Pathogenic 116,389,679(+) CAATG(G/T)GCCGG reference, missense
rs193920762 Uncertain significance 116,388,207(+) AAGTT(C/T)AAAGA reference, missense
rs1000050482 -- 116,377,256(+) CTGTT(C/T)ATGGA intron-variant, upstream-variant-2KB

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)

Relevant External Links for ATP1A1 Gene

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

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

Disorders for ATP1A1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATP1A1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
thyrotoxic periodic paralysis
  • thyrotoxic hypokalemic periodic paralysis
endocrine organ benign neoplasm
organ system benign neoplasm
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP1A1

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

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP1A1 Gene

Publications for ATP1A1 Gene

  1. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. (PMID: 16430714) Kung A.W. … Chan V. (Clin. Endocrinol. (Oxf) 2006) 3 22 46 64
  2. 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. … Bok D. (Gene 1995) 3 4 22 64
  3. 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 M.M. … Lingrel J.B. (Genomics 1990) 3 4 22 64
  4. POST, partner of stromal interaction molecule 1 (STIM1), targets STIM1 to multiple transporters. (PMID: 22084111) Krapivinsky G. … Clapham D.E. (Proc. Natl. Acad. Sci. U.S.A. 2011) 3 4 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for ATP1A1 Gene

Sources for ATP1A1 Gene

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