ATP1A3 Gene
ATPase Na+/K+ Transporting Subunit Alpha 3
Gene Information Card
| Symbol | ATP1A3 |
|---|---|
| Full Name | ATPase Na+/K+ Transporting Subunit Alpha 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 478 ncbi.nlm.nih.gov/gene/478 |
| Ensembl ID | ENSG00000105409 |
| UniProt ID | P13637 |
| OMIM ID | 182350 |
| HGNC ID | 801 |
| Aliases | ATP1A1, DYT12, AHC2, CAPOS |
Description
The ATP1A3 gene encodes the alpha-3 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. This pump is essential for neuronal excitability, ion homeostasis, and secondary active transport. Mutations in ATP1A3 are associated with several neurological disorders, including alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (DYT12), and CAPOS syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alternating Hemiplegia of Childhood (AHC) | Missense mutations reduce Na+/K+ ATPase activity, impairing ion homeostasis and neuronal function. | ClinVar, OMIM #614820 |
| Rapid-Onset Dystonia-Parkinsonism (DYT12) | Dominant-negative or loss-of-function mutations disrupt pump activity, leading to motor dysfunction. | ClinVar, OMIM #128235 |
| CAPOS Syndrome | Specific missense mutations (e.g., p.Glu818Lys) cause cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. | ClinVar, OMIM #614820 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 8.2 | Medium |
| Skeletal Muscle | 6.1 | Medium |
| Kidney | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | High expression in neuronal model |
| HEK293 (embryonic kidney) | 7.8 | Moderate expression |
| HeLa (cervical carcinoma) | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Asp801Tyr | Missense | Rare | Loss of function; associated with AHC |
| p.Glu818Lys | Missense | Rare | Gain of function?; associated with CAPOS syndrome |
| p.Ile810Asn | Missense | Rare | Dominant-negative; associated with DYT12 |
Mutation functional classification
Loss of Function (LOF)
Most AHC and DYT12 mutations reduce Na+/K+ ATPase activity, impairing ion transport.
Gain of Function (GOF)
Some CAPOS mutations (e.g., p.Glu818Lys) may alter pump kinetics, but evidence is limited.
Dominant Negative (DN)
DYT12 mutations often exert dominant-negative effects by disrupting the functional alpha-beta complex.
View complete mutation data：
Gene Ontology (GO)
| • sodium:potassium-exchanging ATPase activity (GO:0005391) | • sodium ion transport (GO:0006814) |
| • potassium ion transport (GO:0006813) | • plasma membrane (GO:0005886) |
| • metal ion transport (GO:0030001) |
Pathways
• REACTOME: Ion transport by P-type ATPases (R-HSA-936837)
• KEGG: Cardiac muscle contraction (hsa04260)
• KEGG: Salivary secretion (hsa04970)
Protein Summary
The ATP1A3 protein is a 1013-amino acid catalytic alpha subunit of the Na+/K+-ATPase. It contains 10 transmembrane domains and is primarily expressed in neurons, where it maintains the resting membrane potential and drives secondary transport. Mutations in this protein disrupt ion homeostasis, leading to paroxysmal neurological symptoms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP1A3 Knockout HEK293 Cell Line | EDJ-KQ1821 | Human | 478 | Details Get a Quote |
| ATP1A3 Knockout A-549 Cell Line | EDJ-KQ21669 | Human | 478 | Details Get a Quote |
| ATP1A3 Knockout HCT 116 Cell Line | EDJ-KQ21670 | Human | 478 | Details Get a Quote |
| ATP1A3 Knockout HeLa Cell Line | EDJ-KQ52680 | Human | 478 | Details Get a Quote |
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