ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP1A1provided by HGNC
Official Full Name: ATPase Na+/K+ transporting subunit alpha 1provided by HGNC
Primary source: HGNC:HGNC:799
See related: Ensembl:ENSG00000163399 MIM:182310; AllianceGenome:HGNC:799
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CMT2DD; HOMGSMR2
Summary: The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Expression: Broad expression in kidney (RPKM 278.0), thyroid (RPKM 226.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.1

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (116373244..116404774)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (116381314..116412844)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (116915866..116947396)

Chromosome 1 - NC_000001.11 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ATP1A1/BCL2L1 predicts the response of myelomonocytic and monocytic acute myeloid leukemia to cardiac glycosides.
Title: ATP1A1/BCL2L1 predicts the response of myelomonocytic and monocytic acute myeloid leukemia to cardiac glycosides.
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.
Functional Analysis and Clinical Importance of ATP1A1 in Colon Cancer.
Title: Functional Analysis and Clinical Importance of ATP1A1 in Colon Cancer.
Silencing of ATP1A1 attenuates cell membrane disruption by nanosecond electric pulses.
Title: Silencing of ATP1A1 attenuates cell membrane disruption by nanosecond electric pulses.
Meta-data analysis of kidney stone disease highlights ATP1A1 involvement in renal crystal formation.
Title: Meta-data analysis of kidney stone disease highlights ATP1A1 involvement in renal crystal formation.
Na, K-ATPase alpha1 cooperates with its endogenous ligand to reprogram immune microenvironment of lung carcinoma and promotes immune escape.
Title: Na, K-ATPase α1 cooperates with its endogenous ligand to reprogram immune microenvironment of lung carcinoma and promotes immune escape.
Homophilic ATP1A1 binding induces activin A secretion to promote EMT of tumor cells and myofibroblast activation.
Title: Homophilic ATP1A1 binding induces activin A secretion to promote EMT of tumor cells and myofibroblast activation.
Insulin alleviates LPS-induced ARDS via inhibiting CUL4B-mediated proteasomal degradation and restoring expression level of Na,K-ATPase alpha1 subunit through elevating HCF-1.
Title: Insulin alleviates LPS-induced ARDS via inhibiting CUL4B-mediated proteasomal degradation and restoring expression level of Na,K-ATPase α1 subunit through elevating HCF-1.
Hypomethylation associated vitamin D receptor expression in ATP1A1 mutant aldosterone-producing adenoma.
Title: Hypomethylation associated vitamin D receptor expression in ATP1A1 mutant aldosterone-producing adenoma.

Submit: New GeneRIF Correction See all GeneRIFs (105)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Charcot-marie-tooth disease, axonal, type 2DD MedGen: C4747974 OMIM: 618036 GeneReviews: Not available	Compare labs
Hypomagnesemia, seizures, and intellectual disability 2 MedGen: C5193023 OMIM: 618314 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify sodium/potassium-transporting ATPase subunit alpha-1 (ATP1A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify sodium/potassium-transporting ATPase subunit alpha-1 (ATP1A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify sodium/potassium-transporting ATPase subunit alpha-1 (ATP1A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Cellular biotinylated ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1) protein is incorporated into HIV-1 Gag virus-like particles	PubMed
	gag	HIV-1 Gag fractionates with the cellular cytosol markers LC3A/B and the plasma membrane marker Na-K ATPase in 293T cells	PubMed
	gag	Tandem affinity purification and mass spectrometry analysis identify sodium/potassium-transporting ATPase subunit alpha-1 (ATP1A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D1S3311 (e-PCR)
- UniSTS:154694

SHGC-75376 (e-PCR)
- UniSTS:40787

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

RH17421 (e-PCR)
- UniSTS:18307

D1S1924E (e-PCR)
- UniSTS:151258

A001Z44 (e-PCR)
- UniSTS:66284

AL009633 (e-PCR)
- UniSTS:77292

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
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	IGI Inferred from Genetic Interaction more info	PubMed
enables P-type sodium:potassium-exchanging transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatase activity	IEA Inferred from Electronic Annotation more info
enables potassium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables steroid hormone binding	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane transporter binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cardiac muscle cell action potential involved in contraction	TAS Traceable Author Statement more info	PubMed
involved_in cell communication by electrical coupling involved in cardiac conduction	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to steroid hormone stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment or maintenance of transmembrane electrochemical gradient	NAS Non-traceable Author Statement more info	PubMed
involved_in intracellular potassium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular potassium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular sodium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in membrane repolarization	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane repolarization during cardiac muscle cell action potential	IC Inferred by Curator more info	PubMed
involved_in negative regulation of glucocorticoid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of heart contraction	IEA Inferred from Electronic Annotation more info
involved_in osmosensory signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of heart contraction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of striated muscle contraction	IEA Inferred from Electronic Annotation more info
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	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in potassium ion import across plasma membrane	ISS Inferred from Sequence or Structural Similarity 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
involved_in regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in regulation of sodium ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of the force of heart contraction	IEA Inferred from Electronic Annotation more info
involved_in relaxation of cardiac muscle	TAS Traceable Author Statement more info	PubMed
involved_in response to glycoside	IDA Inferred from Direct Assay more info	PubMed
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
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	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion export across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in sodium ion export across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in T-tubule	IGI Inferred from Genetic Interaction more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in axon	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular vesicle	HDA more info	PubMed
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane raft	ISS Inferred from Sequence or Structural Similarity more info
located_in organelle membrane	IGI Inferred from Genetic Interaction more info	PubMed
located_in photoreceptor inner segment membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in plasma membrane	HDA more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	ISS Inferred from Sequence or Structural Similarity 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	IDA Inferred from Direct Assay more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	IGI Inferred from Genetic Interaction more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed

General protein information

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

Names: ATPase, Na+/K+ transporting, alpha 1 polypeptide; Na(+)/K(+) ATPase alpha-1 subunit; Na+/K+ ATPase 1; Na, K-ATPase, alpha-A catalytic polypeptide; Na,K-ATPase alpha-1 subunit; Na,K-ATPase catalytic subunit alpha-A protein; sodium pump subunit alpha-1; sodium-potassium ATPase catalytic subunit alpha-1; sodium-potassium-ATPase, alpha 1 polypeptide

NP_000692.2

EC 7.2.2.13

NP_001153705.1

EC 7.2.2.13

NP_001153706.1

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.

Genomic

NG_047036.1 RefSeqGene

Range

6060..37590

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000701.8 → NP_000692.2 sodium/potassium-transporting ATPase subunit alpha-1 isoform a

See identical proteins and their annotated locations for NP_000692.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents use of an alternate promoter and 5' exon, compared to variant 3. The resulting isoform (a) is the same length but has a distinct N-terminus, compared to isoform c.

Source sequence(s)

BC050359, DC335233

Consensus CDS

CCDS887.1

UniProtKB/Swiss-Prot

B2RBR6, B7Z2T5, B7Z3U6, F5H3A1, P05023, Q16689, Q6LDM4, Q9UCN1, Q9UJ20, Q9UJ21

UniProtKB/TrEMBL

B7Z3V1

Related

ENSP00000295598.5, ENST00000295598.10

Conserved Domains (1) summary

TIGR01106
Location:30 → 1023

ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
NM_001160233.2 → NP_001153705.1 sodium/potassium-transporting ATPase subunit alpha-1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).

Source sequence(s)

AK295095, AL136376, BC050359

Consensus CDS

CCDS53351.1

UniProtKB/TrEMBL

B7Z3V1

Related

ENSP00000445306.1, ENST00000537345.5

Conserved Domains (6) summary

smart00831
Location:40 → 114

Cation_ATPase_N; Cation transporter/ATPase, N-terminus

COG4087
Location:606 → 752

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

TIGR01106
Location:30 → 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)
NM_001160234.2 → NP_001153706.1 sodium/potassium-transporting ATPase subunit alpha-1 isoform d

See identical proteins and their annotated locations for NP_001153706.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) represents use of an alternate promoter and uses a downstream start codon compared to variant 3. The resulting isoform (d) has a shorter N-terminus compared to isoform c.

Source sequence(s)

AK296362, BC050359

Consensus CDS

CCDS53352.1

UniProtKB/TrEMBL

B7Z3V1

Related

ENSP00000358508.4, ENST00000369496.8

Conserved Domains (6) summary

smart00831
Location:9 → 83

Cation_ATPase_N; Cation transporter/ATPase, N-terminus

COG4087
Location:575 → 721

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

TIGR01106
Location:1 → 992

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

pfam00122
Location:103 → 334

E1-E2_ATPase; E1-E2 ATPase

pfam00689
Location:768 → 977

Cation_ATPase_C; Cation transporting ATPase, C-terminus

pfam13246
Location:396 → 490

Cation_ATPase; Cation transport ATPase (P-type)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

116373244..116404774

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

116381314..116412844

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001001586.1: Suppressed sequence

Description

NM_001001586.1: This RefSeq was permanently suppressed because it is predicted to be subject to nonsense-mediated decay and reflects non-consensus splice sites when aligned to the genome.