ATP1B1 ATPase Na+/K+ transporting subunit beta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP1B1provided by HGNC
Official Full Name: ATPase Na+/K+ transporting subunit beta 1provided by HGNC
Primary source: HGNC:HGNC:804
See related: Ensembl:ENSG00000143153 MIM:182330; AllianceGenome:HGNC:804
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: ATP1B
Summary: The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010]
Expression: Broad expression in kidney (RPKM 716.2), brain (RPKM 270.1) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (169106690..169132719)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (168462171..168488201)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (169075928..169101957)

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?

Intergenic variants, rs1200114 and rs1200108 are genetically associated along with a decreased ATP1B1 expression in Fuchs Endothelial Corneal Dystrophy.
Title: Intergenic variants, rs1200114 and rs1200108 are genetically associated along with a decreased ATP1B1 expression in Fuchs Endothelial Corneal Dystrophy.
Hypercapnia Induces Inositol-Requiring Enzyme 1alpha-Driven Endoplasmic Reticulum-associated Degradation of the Na,K-ATPase beta-Subunit.
Title: Hypercapnia Induces Inositol-Requiring Enzyme 1α-Driven Endoplasmic Reticulum-associated Degradation of the Na,K-ATPase β-Subunit.
Na/K-ATPase beta1-subunit associates with neuronal growth regulator 1 (NEGR1) to participate in intercellular interactions.
Title: Na/K-ATPase beta1-subunit associates with neuronal growth regulator 1 (NEGR1) to participate in intercellular interactions.
Inducible ATP1B1 Upregulates Antiviral Innate Immune Responses by the Ubiquitination of TRAF3 and TRAF6.
Title: Inducible ATP1B1 Upregulates Antiviral Innate Immune Responses by the Ubiquitination of TRAF3 and TRAF6.
The Na+, K+-ATPase beta1 subunit regulates epithelial tight junctions via MRCKalpha.
Title: The Na+, K+-ATPase β1 subunit regulates epithelial tight junctions via MRCKα.
Na, K-ATPase alpha1 and beta1 subunits are degraded in lysosomes by RNF183-mediated ubiquitination of beta1 subunit.
Title: Hypertonicity-responsive ubiquitin ligase RNF183 promotes Na, K-ATPase lysosomal degradation through ubiquitination of its β1 subunit.
These findings reveal that the downregulation of the Na,KATPase beta1 subunit enhances the expression of profibrotic molecules in alveolar epithelial cells and may contribute to Idiopathic pulmonary fibrosis pathogenesis.
Title: The profibrotic effect of downregulated Na,K‑ATPase β1 subunit in alveolar epithelial cells during lung fibrosis.
miR-192-5p in the kidney protects against the development of hypertension, which is mediated, at least in part, by targeting Atp1b1.
Title: MiR-192-5p in the Kidney Protects Against the Development of Hypertension.
Novel Single Nucleotide Polymorphism at ATP1B1 implicate gene regulatory dysfunction in QT prolongation in African and Hispanic Americans.
Title: Fine mapping of QT interval regions in global populations refines previously identified QT interval loci and identifies signals unique to African and Hispanic descent populations.
the ratio between FXYD5 and alpha1-beta1 heterodimer determines whether the Na,K-ATPase acts as a positive or negative regulator of intercellular adhesion.
Title: The O-glycosylated ectodomain of FXYD5 impairs adhesion by disrupting cell-cell trans-dimerization of Na,K-ATPase β1 subunits.

Submit: New GeneRIF Correction See all GeneRIFs (44)

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
Essential hypertension, genetic MedGen: CN305331 OMIM: 145500 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Impact of ancestry and common genetic variants on QT interval in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_12181-12182:1004710927:1 (e-PCR)
- UniSTS:267355

GDB:193196 (e-PCR)
- UniSTS:155746

SHGC-75869 (e-PCR)
- UniSTS:16508

SHGC-75881 (e-PCR)
- UniSTS:76444

SHGC-75866 (e-PCR)
- UniSTS:9634

WI-14725 (e-PCR)
- UniSTS:5799

GDB:451712 (e-PCR)
- UniSTS:157352

ATP1B1 (e-PCR)
- UniSTS:503734

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables ATPase activator activity	IGI Inferred from Genetic Interaction more info	PubMed
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables MHC class II protein complex binding	HDA more info	PubMed
enables P-type sodium:potassium-exchanging transporter activity	IDA Inferred from Direct Assay more info	PubMed
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 kinase binding	IEA Inferred from Electronic Annotation more info
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-macromolecule adaptor activity	IGI Inferred from Genetic Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cardiac muscle contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell communication by electrical coupling involved in cardiac conduction	TAS Traceable Author Statement more info	PubMed
involved_in establishment or maintenance of transmembrane electrochemical gradient	NAS Non-traceable Author Statement more info	PubMed
involved_in establishment or maintenance of transmembrane electrochemical gradient	TAS Traceable Author Statement more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in intracellular calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
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 monoatomic cation transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of ATP-dependent activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of P-type sodium:potassium-exchanging transporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of P-type sodium:potassium-exchanging transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of P-type sodium:potassium-exchanging transporter activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of potassium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of potassium ion import across plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of potassium ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of sodium ion export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of sodium ion export across plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of sodium ion export across plasma membrane	ISS Inferred from Sequence or Structural Similarity 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	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 protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein transport into plasma membrane raft	TAS Traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of cardiac muscle contraction by calcium ion signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in relaxation of cardiac muscle	ISS Inferred from Sequence or Structural Similarity 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
involved_in sodium ion transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
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 apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular vesicle	HDA more info	PubMed
located_in intercalated disc	ISS Inferred from Sequence or Structural Similarity more info
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in organelle membrane	IGI Inferred from Genetic Interaction 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 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 beta-1

Names: ATPase, Na+/K+ transporting, beta 1 polypeptide; Beta 1-subunit of Na(+),K(+)-ATPase; Na, K-ATPase beta-1 polypeptide; adenosinetriphosphatase; sodium pump subunit beta-1; sodium-potassium ATPase subunit beta 1 (non-catalytic); sodium/potassium-dependent ATPase beta-1 subunit; sodium/potassium-transporting ATPase beta-1 chain

NP_001668.1

EC 3.6.1.3

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_023230.1 RefSeqGene

Range

4982..31011

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001677.4 → NP_001668.1 sodium/potassium-transporting ATPase subunit beta-1

See identical proteins and their annotated locations for NP_001668.1

Status: REVIEWED

Source sequence(s)

AA514770, AL031726, BC000006, BE223067, BM762099, BQ934151, CD722755, U16799

Consensus CDS

CCDS1276.1

UniProtKB/Swiss-Prot

P05026, Q5TGZ3

UniProtKB/TrEMBL

A3KLL5, Q6LEU2

Related

ENSP00000356789.3, ENST00000367815.9

Conserved Domains (1) summary

TIGR01107
Location:1 → 303

Na_K_ATPase_bet; Sodium Potassium ATPase beta subunit

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

169106690..169132719

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

168462171..168488201

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001001787.1: Suppressed sequence

Description

NM_001001787.1: This RefSeq was permanently suppressed because it represents a poorly supported variant with non-consensus splice sites.