Gene
atp1a3a
- ID
- ZDB-GENE-001212-7
- Name
- ATPase Na+/K+ transporting subunit alpha 3a
- Symbol
- atp1a3a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to enable P-type sodium:potassium-exchanging transporter activity. Acts upstream of or within locomotory behavior and ventricular system development. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in nervous system; neural tube; pancreas primordium; pronephric duct; and trigeminal placode. Human ortholog(s) of this gene implicated in alternating hemiplegia of childhood; bipolar disorder; developmental and epileptic encephalopathy 99; dystonia 12; and epilepsy. Orthologous to human ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb705 (18 images)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Doganli et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| alternating hemiplegia of childhood | Alliance | Alternating hemiplegia of childhood 2 | 614820 |
| developmental and epileptic encephalopathy 99 | Alliance | Developmental and epileptic encephalopathy 99 | 619606 |
| dystonia 12 | Alliance | Dystonia-12 | 128235 |
| CAPOS syndrome | 601338 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004014 | Cation-transporting P-type ATPase, N-terminal |
| Domain | IPR006068 | Cation-transporting P-type ATPase, C-terminal |
| Domain | IPR044492 | P-type ATPase, haloacid dehalogenase domain |
| Family | IPR001757 | P-type ATPase |
| Family | IPR005775 | P-type ATPase subfamily IIC, subunit alpha |
| Family | IPR050510 | Cation transport ATPase (P-type) |
| Homologous_superfamily | IPR008250 | P-type ATPase, A domain superfamily |
| Homologous_superfamily | IPR023214 | HAD superfamily |
| Homologous_superfamily | IPR023298 | P-type ATPase, transmembrane domain superfamily |
| Homologous_superfamily | IPR023299 | P-type ATPase, cytoplasmic domain N |
| Homologous_superfamily | IPR036412 | HAD-like superfamily |
| PTM | IPR018303 | P-type ATPase, phosphorylation site |
Domain Details Per Protein
| Protein | Length | Cation transport ATPase (P-type) | Cation-transporting P-type ATPase, C-terminal | Cation-transporting P-type ATPase, N-terminal | HAD-like superfamily | HAD superfamily | P-type ATPase | P-type ATPase, A domain superfamily | P-type ATPase, cytoplasmic domain N | P-type ATPase, haloacid dehalogenase domain | P-type ATPase, phosphorylation site | P-type ATPase subfamily IIC, subunit alpha | P-type ATPase, transmembrane domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q6P271
|
1023 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp1a3a-201
(1)
|
Ensembl | 5,379 nt |
Interactions and Pathways
No data available
Plasmids
No data available