ATP1B3: The Na+/K+-ATPase Beta-3 Subunit — A Key Regulator of Ion Homeostasis and Cell Adhesion
Comprehensive biomedical reference for ATP1B3, covering gene structure, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | ATP1B3 |
|---|---|
| Full Name | ATPase Na+/K+ transporting subunit beta 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q23 |
| NCBI Gene ID | 483 ncbi.nlm.nih.gov/gene/483 |
| Ensembl ID | ENSG00000069849 |
| UniProt ID | P54709 |
| OMIM ID | 601867 |
| HGNC ID | 806 |
| Aliases | CD298, ATPB-3, FLJ29027 |
Description
ATP1B3 encodes the beta-3 subunit of the Na+/K+-ATPase, an integral membrane protein that, together with the alpha subunit, forms the functional enzyme responsible for maintaining electrochemical gradients across the plasma membrane. The beta subunit is required for proper folding, membrane targeting, and stability of the alpha subunit. Beyond ion transport, ATP1B3 has been implicated in cell adhesion and signaling, and its dysregulation is associated with various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancers (e.g., colorectal, renal, breast) | Altered ATP1B3 expression affects cell adhesion and proliferation; may modulate signaling pathways. | COSMIC, PubMed (via NCBI) |
| Neurological disorders (e.g., epilepsy, intellectual disability) | Mutations in ATP1B3 may disrupt Na+/K+-ATPase function, affecting neuronal excitability. | ClinVar, OMIM |
| Primary aldosteronism | Somatic mutations in ATP1B3 have been identified in aldosterone-producing adenomas, leading to increased aldosterone synthesis. | OMIM, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High expression in multiple brain regions |
| Kidney | High | High expression in renal tubules |
| Heart | Medium | Moderate expression in cardiac tissue |
| Liver | Low | Low expression |
| Lung | Low | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | High | Commonly used for functional studies |
| HeLa | Medium | Cervical cancer cell line |
| MCF7 | Medium | Breast cancer cell line |
| A549 | Low | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.833C>T (p.Pro278Leu) | Missense | Rare | Reported in aldosterone-producing adenoma; may alter ATPase activity. |
| c.112G>A (p.Gly38Arg) | Missense | Rare | Associated with neurodevelopmental disorder; functional impact unknown. |
| c.1015A>G (p.Ile339Val) | Missense | Rare | ClinVar variant of uncertain significance. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ATP1B3 are not well characterized; however, reduced expression or activity may impair Na+/K+-ATPase function, affecting ion homeostasis.
Gain of Function (GOF)
Gain-of-function mutations have been suggested in aldosterone-producing adenomas, where increased ATPase activity may promote aldosterone production.
Dominant Negative (DN)
Dominant-negative effects are not clearly established for ATP1B3 mutations; however, mutations affecting beta subunit assembly could impair alpha-beta heterodimer formation.
View complete mutation data：
Gene Ontology (GO)
| • ATPase activator activity | • sodium:potassium-exchanging ATPase activity |
| • protein binding | • plasma membrane |
| • integral component of membrane | • ion transport |
| • cellular sodium ion homeostasis | • cellular potassium ion homeostasis |
| • cell adhesion | • signal transduction |
Pathways
• Ion transport by P-type ATPases
• Na+/K+-ATPase regulation
• Aldosterone synthesis and secretion
Protein Summary
ATP1B3 is a 279-amino acid type II membrane protein with a cytoplasmic N-terminus, a single transmembrane domain, and an extracellular C-terminal domain. It contains three conserved disulfide bonds and N-glycosylation sites. The beta subunit is essential for the functional maturation of the Na+/K+-ATPase alpha subunit, facilitating its transport from the endoplasmic reticulum to the plasma membrane. ATP1B3 also participates in cell-cell adhesion through its extracellular domain, interacting with other membrane proteins. Its expression is ubiquitous but varies across tissues, with high levels in the brain and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP1B3 Knockout HEK293 Cell Line | EDJ-KQ1825 | Human | 483 | Details Get a Quote |
| ATP1B3 Knockout HeLa Cell Line | EDJ-KQ20361 | Human | 483 | Details Get a Quote |
| ATP1B3 Knockout A-549 Cell Line | EDJ-KQ21674 | Human | 483 | Details Get a Quote |
| ATP1B3 Knockout HCT 116 Cell Line | EDJ-KQ21675 | Human | 483 | Details Get a Quote |
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