Atp1a1 ATPase, Na+/K+ transporting, alpha 1 polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp1a1provided by MGI
Official Full Name: ATPase, Na+/K+ transporting, alpha 1 polypeptideprovided by MGI
Primary source: MGI:MGI:88105
See related: Ensembl:ENSMUSG00000033161 AllianceGenome:MGI:88105
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Atpa-1
Summary: Enables P-type sodium:potassium-exchanging transporter activity and phosphatase activity. Acts upstream of or within several processes, including negative regulation of glucocorticoid biosynthetic process; positive regulation of striated muscle contraction; and regulation of heart contraction. Located in several cellular components, including T-tubule; basolateral plasma membrane; and postsynaptic density. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2DD. Orthologous to human ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in kidney adult (RPKM 909.8), duodenum adult (RPKM 621.7) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F2.2; 3 44.3 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (101483535..101512023, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (101576219..101604707, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ATP1A1-linked diseases require a malfunctioning protein product from one allele.
Title: ATP1A1-linked diseases require a malfunctioning protein product from one allele.
Normalization of the ATP1A1 Signalosome Rescinds Epigenetic Modifications and Induces Cell Autophagy in Hepatocellular Carcinoma.
Title: Normalization of the ATP1A1 Signalosome Rescinds Epigenetic Modifications and Induces Cell Autophagy in Hepatocellular Carcinoma.
PPAR-alpha knockout leads to elevated blood pressure response to angiotensin II infusion associated with an increase in renal alpha-1 Na(+)/K(+) ATPase protein expression and activity.
Title: PPAR-α knockout leads to elevated blood pressure response to angiotensin II infusion associated with an increase in renal α-1 Na(+)/K(+) ATPase protein expression and activity.
The cellular prion protein interacts with and promotes the activity of Na,K-ATPases.
Title: The cellular prion protein interacts with and promotes the activity of Na,K-ATPases.
The Na/K-ATPase alpha1/Src interaction regulates metabolic reserve and Western diet intolerance.
Title: The Na/K-ATPase α1/Src interaction regulates metabolic reserve and Western diet intolerance.
A Na,K-ATPase-Fodrin-Actin Membrane Cytoskeleton Complex is Required for Endothelial Fenestra Biogenesis.
Title: A Na,K-ATPase-Fodrin-Actin Membrane Cytoskeleton Complex is Required for Endothelial Fenestra Biogenesis.
this study examines the function of alpha1- and alpha2-Na,K-ATPase isozymes in respiratory diaphragm and postural soleus muscles from mdx and Bla/J mice compared with control capital ES, Cyrillic57Bl/6 mice.
Title: Isoform-specific Na,K-ATPase and membrane cholesterol remodeling in motor endplates in distinct mouse models of myodystrophy.
Data suggest that G protein-coupled receptor 35 (GPR35 ) acts as a central signaling and metabolic pacesetter, which reveals an unexpected role of sodium potassium pump (Na/K-ATPase) in macrophage and intestinal epithelial cells (IECs) biology.
Title: GPR35 promotes glycolysis, proliferation, and oncogenic signaling by engaging with the sodium potassium pump.
Our results show that cytosolic Na(+) in mouse cortical astrocytes can vary considerably and depends greatly on the concentrations of HCO3 (-) and K(+) , attributable to the activity of the Na(+) -K(+) -ATPase, of NBCe1 and NKCC1
Title: Cytosolic sodium regulation in mouse cortical astrocytes and its dependence on potassium and bicarbonate.
Functional selection and assembly of NKA subunit isoforms occurs in the cochlear stria vascularis lateral wall, which is disrupted and dysregulated with age.
Title: Age-related changes in Na, K-ATPase expression, subunit isoform selection and assembly in the stria vascularis lateral wall of mouse cochlea.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (2) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Atp1a1 (e-PCR), detects polymorphism
- UniSTS:546665

A001Z44 (e-PCR)
- UniSTS:66284

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ADP binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables P-type potassium transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables P-type sodium:potassium-exchanging transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables P-type sodium:potassium-exchanging transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables P-type sodium:potassium-exchanging transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables P-type sodium:potassium-exchanging transporter activity	ISO Inferred from Sequence Orthology more info
enables ankyrin binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylinositol 3-kinase binding	ISO Inferred from Sequence Orthology more info
enables potassium ion binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein-folding chaperone binding	ISO Inferred from Sequence Orthology more info
enables sodium ion binding	ISO Inferred from Sequence Orthology more info
enables steroid hormone binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to mechanical stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to steroid hormone stimulus	ISO Inferred from Sequence Orthology more info
involved_in establishment or maintenance of transmembrane electrochemical gradient	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular potassium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular potassium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular sodium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular sodium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in membrane hyperpolarization	ISO Inferred from Sequence Orthology more info
involved_in membrane repolarization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of glucocorticoid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osmosensory signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of striated muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transport	ISO Inferred from Sequence Orthology more info
involved_in proton transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of blood pressure	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of cardiac muscle cell contraction	ISO Inferred from Sequence Orthology more info
involved_in regulation of sodium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of the force of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in response to glycoside	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion export across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in sodium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion transport	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in T-tubule	IDA Inferred from Direct Assay more info	PubMed
located_in T-tubule	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in caveola	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
located_in lateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
located_in organelle membrane	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
part_of sodium:potassium-exchanging ATPase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of sodium:potassium-exchanging ATPase complex	ISO Inferred from Sequence Orthology more info
located_in sperm flagellum	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sodium/potassium-transporting ATPase subunit alpha-1

Names: Na(+)/K(+) ATPase alpha-1 subunit; sodium pump subunit alpha-1

NP_659149.1

EC 7.2.2.13

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_144900.2 → NP_659149.1 sodium/potassium-transporting ATPase subunit alpha-1

See identical proteins and their annotated locations for NP_659149.1

Status: VALIDATED

Source sequence(s)

AC127357, AC131658, AK159306, BB863666, BE994800

Consensus CDS

CCDS17683.1

UniProtKB/Swiss-Prot

Q8VDN2, Q91Z09

UniProtKB/TrEMBL

Q3TXF9

Related

ENSMUSP00000039657.7, ENSMUST00000036493.8

Conserved Domains (6) summary

smart00831
Location:40 → 114

Cation_ATPase_N; Cation transporter/ATPase, N-terminus

COG4087
Location:606 → 732

COG4087; Soluble P-type ATPase [General function prediction only]

TIGR01106
Location:29 → 1023

ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit

pfam00122
Location:134 → 365

E1-E2_ATPase; E1-E2 ATPase

pfam00689
Location:799 → 1008

Cation_ATPase_C; Cation transporting ATPase, C-terminus

pfam13246
Location:427 → 521

Cation_ATPase; Cation transport ATPase (P-type)