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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ATP1A1 Gene

protein-coding GIFtS: 69
GCID: GC01P116915

ATPase, Na+/K+ transporting, alpha 1 polypeptide

Explore 29 diseases affiliated with
ATP1A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
ATPase, Na+/K+ Transporting, Alpha 1 Polypeptide¹ ²		Na,K-ATPase Alpha-1 Subunit²
Sodium Pump Subunit Alpha-1² ³		Na,K-ATPase Catalytic Subunit Alpha-A Protein²
Na(+)/K(+) ATPase Alpha-1 Subunit² ³		Sodium Pump 1²
EC 3.6.3.9³ ⁸		Sodium-Potassium ATPase Catalytic Subunit Alpha-1²
Na+, K+ ATPase Alpha Subunit²		Sodium-Potassium-ATPase, Alpha 1 Polypeptide²
Na+/K+ ATPase 1²		Sodium/Potassium-Transporting ATPase Subunit Alpha-1²
Na, K-ATPase, Alpha-A Catalytic Polypeptide²		EC 3.6.3⁸

External Ids:	HGNC: 799¹	Entrez Gene: 476²	Ensembl: ENSG00000163399⁷	OMIM: 182310⁵	UniProtKB: P05023³

Export aliases for ATP1A1 gene to outside databases

Previous GC identifers: GC01P117418 GC01P115798 GC01P116063 GC01P116262 GC01P116627 GC01P116717 GC01P114773

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP1A1:

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)

UniProtKB/Swiss-Prot: AT1A1_HUMAN, P05023

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

summary for ATP1A1:

Na+,K+-ATPase is an ion pump responsible for maintaining sodium and potassium electrochemical gradients

across the plasma membrane.

Gene Wiki entry for ATP1A1 (ATPase, Na+/K+ transporting, alpha 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ATP1A1 gene promoter:
NF-1 Tal-1 p53 POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) POU3F2 GATA-1 E47 aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): ATP1A1 promoter sequence

Search SABiosciences Chromatin IP Primers for ATP1A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP1A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p21 Ensembl cytogenetic band: 1p13.1 HGNC cytogenetic band: 1p13

ATP1A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP1A1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P116915: view genomic region (about GC identifiers)

Start:	116,915,290 bp from pter	End:	116,952,883 bp from pter
Size:	37,594 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AT1A1_HUMAN, P05023 (See protein sequence)

Recommended Name: Sodium/potassium-transporting ATPase subunit alpha-1 precursor

Size: 1023 amino acids; 112896 Da

Subunit: Interacts with SIK1 (By similarity). Composed of three subunits: alpha (catalytic), beta and gamma. Binds the

HLA class II histocompatibility antigen, DR1

Subcellular location: Cell membrane; Multi-pass membrane protein. Melanosome. Note=Identified by mass spectrometry in

melanosome fractions from stage I to stage IV

Secondary accessions: B2RBR6 B7Z3U6 Q16689 Q6LDM4 Q9UCN1 Q9UJ20 Q9UJ21

Alternative splicing: 3 isoforms: P05023-1 P05023-2 P05023-3 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for ATP1A1: NX_P05023

Post-translational modifications:

Phosphorylation on Tyr-10 modulates pumping activity. Dephosphorylation by protein phosphatase 2A (PP2A) following

increases in intracellular sodium, leading to increase catalytic activity (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P05023

4/103 DME Specific Peptides for ATP1A1 (P05023) (see all 103)

AVETLGS

SSLTGES

LIFVYDE

DDHKLSL

ATP1A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000692.2 NP_001153705.1 NP_001153706.1

ENSEMBL proteins:

ENSP00000400124 ENSP00000295598 ENSP00000358506 ENSP00000396236 ENSP00000445306

ENSP00000358508

Reactome Protein details: P05023
Human Recombinant Protein Products:

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	OriGene Purified Protein: ATP1A1 OriGene Protein Over-expression Lysate (see all 2): ATP1A1 OriGene Custom Protein Services for ATP1A1
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	Novus Biologicals ATP1A1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005783	endoplasmic reticulum	ISS	--
GO:0005792	microsome	--	--
GO:0005794	Golgi apparatus	ISS	--
GO:0005886	plasma membrane	TAS	--

ATP1A1 for ontologies About GeneDecksing

ATP1A1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ATP1A1
	Browse R&D Systems for Antibodies
	OriGene Antibodies (see all 3): ATP1A1 OriGene Custom Antibody Services for ATP1A1
	GenScript Superior Antibodies for ATP1A1
	Novus Biologicals ATP1A1 Antibodies
	Abcam antibodies for ATP1A1
	Browse Antibodies at Uscn
	ThermoFisher Antibody for ATP1A1

Assay Products for ATP1A1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ATP1A1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ATP1A1 for domains About GeneDecksing

5/10 InterPro domains/families (see all 10):

IPR023298 ATPase_P-typ_TM_dom

IPR023306 ATPase_cation_domN

IPR005775 ATPase_P-typ_Na/K

IPR023299 ATPase_P-typ_cyto_domN

IPR008250 ATPase_P-typ_transduc_dom_A

Graphical View of Domain Structure for InterPro Entry P05023

ProtoNet protein and cluster: P05023

4 Blocks protein families:

IPB001757 ATPase

IPB006068 Cation transporting ATPase

IPB006069 Sodium/potassium-transporting ATPase signature

IPB008250 E1-E2 ATPase-associated region

UniProtKB/Swiss-Prot: AT1A1_HUMAN, P05023

Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: AT1A1_HUMAN, P05023

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

Catalytic activity: ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In)

Genatlas biochemistry entry for ATP1A1:

ATPase,Na+K+,alpha 1 polypeptide

Enzyme Numbers (IUBMB): EC 3.6.3.9¹ ² EC 3.6.3²

miRNA Products:		OriGene 3'-UTR Clone (see all 3): ATP1A1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATP1A1
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP1A1 (see all 11):
		hsa-miR-3163 hsa-miR-3685 hsa-miR-548d-3p hsa-miR-520d-5p hsa-miR-374b hsa-miR-374a hsa-miR-124 hsa-miR-506

		SwitchGear 3'UTR luciferase reporter plasmid: ATP1A1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATP1A1 (see all 7) OriGene shRNA RFP: ATP1A1 OriGene siRNA: ATP1A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP1A1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ATP1A1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP1A1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP1A1 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): ATP1A1 (NM_000701)
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		Search LifeMap BioReagents cell lines for ATP1A1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP1A1

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003869	4-nitrophenylphosphatase activity	--	--
GO:0005391	sodium:potassium-exchanging ATPase activity	ISS	--
GO:0005515	protein binding	IPI	15671290
GO:0005524	ATP binding	IEA	--
GO:0015077	monovalent inorganic cation transmembrane transporter activity	--	--

ATP1A1 for ontologies About GeneDecksing

7 GenomeRNAi human phenotypes for ATP1A1:

Decreased Salmonella enterica	Decreased Salmonella enterica	Decreased Salmonella enterica	Decreased Salmonella enterica
Decreased Salmonella enterica	Decreased Salmonella-containin	Increased cell number in G1, s

Animal Models:
Mouse knock-out Atp1a1^tm1Ling for ATP1A1
5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Atp1a1):

behavior/neurological

cardiovascular system

homeostasis/metabolism

mortality/aging

muscle

ATP1A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/20 super-pathways (see all 20) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ion channel transport

Ion channel transport

1.00

Ion transport by P-type ATPases

0.32

Gastric acid secretion

Gastric acid secretion

1.00

Salivary secretion

0.35

Development_Leptin signaling via PI3K-dependent pathway

Development Leptin signaling via PI3K-dependent pathway

1.00

Development_Leptin signaling via PI3K-dependent pathway

1.00

Cytoskeletal Signaling

Cytoskeletal Signaling

1.00

Antiarrhythmic Pathway, Pharmacodynamics

Antiarrhythmic Pathway, Pharmacodynamics

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for ATP1A1

	Sodium-coupled transporters and pumps
	Selected targets of GCR-alpha
	Development Leptin signaling via PI3K-dependent pathway

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ATP1A1

	Hepatic ABC Transporters
	Aldosterone Signaling in Epithelial Cells

1 Cell Signaling Technology (CST) Pathway for ATP1A1

Cytoskeletal Signaling

1 GeneGo (Thomson Reuters) Pathway for ATP1A1

Development Leptin signaling via PI3K-dependent pathway

3 Reactome Pathways for ATP1A1

	Transmembrane transport of small molecules
	Ion channel transport
	Ion transport by P-type ATPases

2 PharmGKB Pathways for ATP1A1

	Antiarrhythmic Pathway, Pharmacodynamics
	Diuretics Pathway, Pharmacodynamics

5/11 Kegg Pathways (Kegg details for ATP1A1) (see all 11):

	Cardiac muscle contraction
	Aldosterone-regulated sodium reabsorption
	Endocrine and other factor-regulated calcium reabsorption
	Proximal tubule bicarbonate reclamation
	Salivary secretion

ATP1A1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ATP1A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/122 Interacting proteins for ATP1A1 (P05023^{2, 3} ENSP00000295598⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 122)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TPT1	P13693²^,³, ENSP00000368350⁴	MINT-2634433 I2D: score=3 STRING: ENSP00000368350
SNX6	Q9UNH7²^,³, ENSP00000355217⁴	MINT-2634538 I2D: score=1 STRING: ENSP00000355217
TNFRSF1A	P19438²^,³	MINT-49301 I2D: score=2
TNFRSF1B	P20333²^,³	MINT-49377 I2D: score=2
TRADD	Q15628²^,³	MINT-49467 I2D: score=2

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002026	regulation of the force of heart contraction	--	--
GO:0002028	regulation of sodium ion transport	ISS	--
GO:0006754	ATP biosynthetic process	IEA	--
GO:0008217	regulation of blood pressure	--	--
GO:0031947	negative regulation of glucocorticoid biosynthetic process	--	--

ATP1A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ATP1A1 for compounds About GeneDecksing

EMD Millipore small molecules for ATP1A1:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for ATP1A1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Ouabain	Na+,K+-ATPase inhibitor	[630-60-4]
Digoxin	Na+,K+-ATPase inhibitor	[20830-75-5]

10 HMDB Compounds for ATP1A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Digoxin	Cardoxin (see all 19)	20830-75-5	--
Furosemide	Acetic acid potassium salt (see all 176)	54-31-9	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Pantoprazole	Pantoloc (see all 6)	102625-70-7	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Potassium	K+ (see all 16)	7440-09-7	--
Sodium	Sodium (see all 2)	7440-23-5	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

10/15 DrugBank Compounds for ATP1A1 (see all 15) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Aluminium	--	7429-90-5	target	binder	11509182 15651920 15111247 14507470 11752352 15254985
Digitoxin	Digitoksin (see all 3)	71-63-6	target	inhibitor	131389 132355 11309248 123547 136410 19751721
Ouabain	G-Strophanthin (see all 7)	630-60-4	target	inhibitor	10593659 10593655 10541475 11752352 10564763 10567200
Almitrine	Almitrine bismesylate (see all 3)	27469-53-0	target	binder	2527061 8099718 11752352 2144185 2165421
Bepridil	--	64706-54-3	target	inhibitor	2148481 2938592 1329768 2933041 2207500
Digoxin	--	20830-75-5	target	--	11309248 11324464 11515751 11272406 11687608
Ethacrynic acid	Etacrinic acid (see all 6)	58-54-8	target	inhibitor	124600 124205 12713517 127690 12680902
Potassium	--	--	target	--	17366541 17334838 17444965 17347782 17369284
Bretylium	Bretylate (see all 4)	59-41-6	target	inhibitor	1662173 1667290 1334399 15121098
Magnesium	--	7439-95-4	target	--	16928192 17294093 16990961 16808357

2 Novoseek chemical compound relationships for ATP1A1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ouabain	54	2	11768735 (1), 19427512 (1)
calcium	0	2	8407954 (1), 18550646 (1)

Search CenterWatch for drugs/clinical trials and news about ATP1A1 / AT1A1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ATP1A1 gene (4 alternative transcripts):

NM_000701.7 NM_001160233.1 NM_001160234.1 NM_001001586.1

Unigene Cluster for ATP1A1:

ATPase, Na+/K+ transporting, alpha 1 polypeptide

Hs.371889 [show with all ESTs]

Unigene Representative Sequence: NM_001160233

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000418797 ENST00000295598(uc001ege.3) ENST00000488733(uc001egd.2)

ENST00000369494 ENST00000463382 ENST00000491156 ENST00000440951 ENST00000479960

ENST00000495965 ENST00000537345(uc010oww.2) ENST00000369496(uc010owv.1 uc010owx.2)

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		SwitchGear 3'UTR luciferase reporter plasmid: ATP1A1 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector (see all 3): ATP1A1 (NM_000701)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP1A1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP1A1

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP1A1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP1A1

Additional cDNA sequence:

AK293689.1 AK295095.1 AK296362.1 AK296384.1 AK308418.1 AK314777.1 AY946013.1 BC001330.1

BC003077.2 BC050359.1 J03007.1 U16798.1

24/74 DOTS entries (see all 74):

DT.75165969 DT.92345482 DT.95264681 DT.95264709 DT.100855340 DT.70103952 DT.100680990 DT.95293386

DT.95264725 DT.121352549 DT.91904187 DT.95264652 DT.121352390 DT.100681002 DT.121352388 DT.95264736

DT.75169764 DT.87009666 DT.91962308 DT.121352536 DT.121352584 DT.121352458 DT.121352557 DT.70100137

24/1761 AceView cDNA sequences (see all 1761):

AI620850 BU839192 BM449788 BG753586 CB142561 BU542553 AA991293 CA416673

BQ899031 BE535371 BU177936 BC050359 BM783430 BU543748 BQ683249 BU553469

CA306315 BU542992 CR622871 BU684228 BU178935 BU856125 AU126044 BU859265

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ATP1A1 (see all 11) About this scheme

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:			-

ExUns:	16c	^	17	^	18	^	19	^	20	^	21a	·	21b	^	22	^	23a	·	23b	^	24	^	25
SP1:											-								-
SP2:	-		-		-		-		-		-		-						-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for ATP1A1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ATP1A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAGCTCTATG

About this image

ATP1A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Renal Collecting Duct System

Collecting Duct Cells

Kidney

Renal Collecting Duct System

Principal Cells

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ATP1A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP1A1

SOURCE GeneReport for Unigene cluster: Hs.371889

SABiosciences Expression via Pathway-Focused PCR Array including ATP1A1:

Osmotic Stress in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ATP1A1 gene from 6/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ATP1A1¹	ATPase, Na+/K+ transporting, alpha 1 polypeptide	81.16(n) 92.65(a)		396530 NM_205521.1 NP_990852.1
lizard (Anolis carolinensis)	Reptilia	ATP1A1⁶	--	94(a)	1 ↔ 1	GL343414.1(35368-55342)
African clawed frog (Xenopus laevis)	Amphibia	BC044670.1²	--	77.73(n)		BC044670.1
zebrafish (Danio rerio)	Actinopterygii	atp1a1a.1²	ATPase, Na+/K+ transporting, alpha 1a.1 polypeptide	78.39(n)		64612 AY028630.1
fruit fly (Drosophila melanogaster)	Insecta	Atpalpha³	cation transport sodium/potassium-exchanging ATPase	76(a) (best of 3)		93B2 --
worm (Caenorhabditis elegans)	Secernentea	eat-6³	Na(+)/K(+) ATPase alpha subunit	73(a) (best of 3)		V(13129245-13132586) --

ENSEMBL Gene Tree for ATP1A1 (if available)
TreeFam Gene Tree for ATP1A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ATP1A1 gene

ATP2C1² ATP2A3² ATP1A2² ATP2C2² ATP1A4² ATP2A1² ATP4A² ATP1A3²

ATP2A2² ATP12A²

7 SIMAP similar genes for ATP1A1 using alignment to 8 protein entries: AT1A1_HUMAN (see all proteins):

ATP1A3 ATP1A2 ATP1A4 ATP4A DKFZp666G172 ATP12A

ATP2C1

ATP1A1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs72998033^1,2	C,F,	--	116913814(+)	`GAGAAA/GTCTAC`	1	--	us2k¹		7		WA CSA NA EA	364
rs61788008^1,2	C,F,	--	116914159(+)	`TGATCC/TGCCCG`	1	--	us2k¹		2		WA CSA	4
rs183918044^1,2		--	116914316(+)	`TTTCTA/GGAAGC`	1	--	us2k¹		0	--	--	--	--
rs188859656^1,2		--	116914364(+)	`TAACAA/GTCTAA`	1	--	us2k¹		0	--	--	--	--
rs74111864^1,2	C,	--	116914639(+)	`TTCCAG/CTTTCA`	2	--	us2k¹		2		WA	120
rs139458860^1,2		--	116914739(+)	`CCTTT-/CCCCAG`	2	--	us2k¹		0	--	--	--	--
rs145622218^1,2		--	116914879(+)	`ACCAGA/GGATCT`	2	--	us2k¹		0	--	--	--	--
rs201424136^1,2		--	116914909(+)	`CTGGG-/CCCCCC`	2	--	us2k¹		0	--	--	--	--
rs191952017^1,2		--	116914914(+)	`GCCCCC/TCCAGA`	2	--	us2k¹		0	--	--	--	--
rs12062591^1,2	C,F,H,	--	116914975(+)	`AGGCAC/TCTGGC`	2	--	us2k¹		12		EA NS NA WA	1536

HapMap Linkage Disequilibrium report for ATP1A1 (116915290 - 116952883 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ATP1A1: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP1A1

DNA2.0 Custom Variant and Variant Library Synthesis for ATP1A1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ATP1A1 for disorders           About GeneDecksing

OMIM gene information: 182310    OMIM disorders: --

20/29 diseases for ATP1A1 (see all 29):    About MalaCards

thyrotoxic periodic paralysis hypomagnesemia dilated cardiomyopathy pulmonary edema

paralysis essential hypertension diabetic neuropathy bipolar disorder

rheumatoid arthritis multiple sclerosis neuropathy cardiomyopathy

vaginitis aldosteronism medulloblastoma hypertension

alzheimer's disease neurodegeneration arthritis pharyngitis

Genetic Association Database (GAD): ATP1A1
Human Genome Epidemiology (HuGE) Navigator: ATP1A1 (10 documents)

Export disorders for ATP1A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ATP1A1 gene, integrated from 9 sources (see all 193):
(articles sorted by number of sources associating them with ATP1A1)

Utopia: connect your pdf to the dynamic
world of online information

Characterization and quantification of full-length and truncated Na,K-ATPase alpha 1 and beta 1 RNA transcripts expressed in human retinal pigment epithelium. (PubMed id 7536695)^{1, 2, 9} Ruiz A.... Bok D. (1995)
The human Na, K-ATPase alpha 1 gene: characterization of the 5'- flanking region and identification of a restriction fragment length polymorphism. (PubMed id 1970326)^{1, 2, 9} Shull M.M.... Lingrel J.B. (1990)
Isoform specificity of cardiac glycosides binding to human Na+,K+-ATPase alpha1beta1, alpha2beta1 and alpha3beta1. (PubMed id 19751721)^{1, 7} Hauck C....MA1ller-Ehmsen J. (2009)
Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)^{1, 2} Chi A....Hunt D.F. (2006)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
An unappreciated role for RNA surveillance. (PubMed id 14759258)^{1, 2} Hillman R.T.... Brenner S.E. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Genetic and environmental regulation of Na/K adenosine triphosphatase activity in diabetic patients. (PubMed id 11887161)^{1, 4} Jannot M.F....Vague P. (2002)
Interaction of alpha(1)-Na,K-ATPase and Na,K,2Cl-cotransporter genes in human essential hypertension. (PubMed id 11509477)^{1, 4} Glorioso N....Ruiz-Opazo N. (2001)
Non-association of the thiazide-sensitive Na,Cl-cotransporter gene with polygenic hypertension in both rats and humans. (PubMed id 11564973)^{1, 4} Song Y....Ruiz-Opazo N. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 476	HGNC: 799	AceView: ATP1A1	Ensembl:ENSG00000163399	euGenes: HUgn476
ECgene: ATP1A1	Kegg: 476	H-InvDB: ATP1A1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ATP1A1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ATP1A1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ATP1A1 gene:
Search GeneIP for patents involving ATP1A1

Licensable Technologies for ATP1A1 gene:

Weizmann Institute:

"Na, K-ATPase Isoforms and Selective Inhibitors Thereof"

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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ATP1A1 Gene

ATPase, Na+/K+ transporting, alpha 1 polypeptide

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ATP1A1 Gene

ATPase, Na+/K+ transporting, alpha 1 polypeptide

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