ATP1B1
ATPase Na+/K+ Transporting Subunit Beta 1
Gene Information Card
| Symbol | ATP1B1 |
|---|---|
| Full Name | ATPase Na+/K+ Transporting Subunit Beta 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 481 ncbi.nlm.nih.gov/gene/481 |
| Ensembl ID | ENSG00000143153 |
| UniProt ID | P05026 |
| OMIM ID | 182330 |
| HGNC ID | 802 |
| Aliases | ATP1B, MGC1798, MGC1799 |
Description
ATP1B1 encodes the beta 1 subunit of the Na+/K+ ATPase, an integral membrane protein responsible for establishing and maintaining the electrochemical gradient of Na+ and K+ ions across the plasma membrane. The beta subunit is required for proper folding, membrane targeting, and functional activity of the alpha subunit. ATP1B1 is widely expressed and plays roles in cell adhesion, signal transduction, and ion homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Altered Na+/K+ ATPase activity affects vascular tone and sodium handling | PMID: 15161629 |
| Cholestasis | Reduced ATP1B1 expression impairs bile acid transport | PMID: 24614130 |
| Gastric cancer | Downregulation associated with tumor progression and poor prognosis | PMID: 23327982 |
| Hearing loss | Mutations disrupt ion homeostasis in inner ear | PMID: 23434736 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 45.2 | High |
| Liver | 32.1 | High |
| Heart | 28.7 | Medium |
| Brain | 22.5 | Medium |
| Lung | 15.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 38.4 | High expression |
| HepG2 | 30.1 | High expression |
| A549 | 18.7 | Moderate expression |
| MCF7 | 12.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82His) | Missense | <0.01% | Reduced pump activity |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Impaired beta subunit assembly |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg82His) reduce Na+/K+ ATPase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:17015 – Ion transport by P-type ATPases
• KEGG:04742 – Taste transduction
• KEGG:04960 – Aldosterone-regulated sodium reabsorption
• KEGG:04972 – Pancreatic secretion
Protein Summary
The beta 1 subunit (UniProt P05026) is a type II membrane glycoprotein of 303 amino acids. It contains an N-terminal cytoplasmic domain, a single transmembrane helix, and a large extracellular domain with three N-glycosylation sites. The beta subunit associates with the alpha subunit to form a functional Na+/K+ ATPase heterodimer, essential for ion transport and cellular homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP1B1 Knockout HEK293 Cell Line | EDJ-KQ1823 | Human | 481 | Details Get a Quote |
| ATP1B1 Knockout A-549 Cell Line | EDJ-KQ21671 | Human | 481 | Details Get a Quote |
| ATP1B1 Knockout HCT 116 Cell Line | EDJ-KQ21672 | Human | 481 | Details Get a Quote |
| ATP1B1 Knockout HeLa Cell Line | EDJ-KQ21673 | Human | 481 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
