Gene
atp1a1a.2
- ID
- ZDB-GENE-001212-2
- Name
- ATPase Na+/K+ transporting subunit alpha 1a, tandem duplicate 2
- Symbol
- atp1a1a.2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have sodium:potassium-exchanging ATPase activity. Involved in semicircular canal morphogenesis. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2DD. Is expressed in several structures, including immature eye; integument; intermediate mesoderm; nervous system; and yolk. Orthologous to human ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 25 figures from 12 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb703 (17 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Minhas et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease type 2DD | Alliance | Charcot-Marie-Tooth disease, axonal, type 2DD | 618036 |
| Hypomagnesemia, seizures, and impaired intellectual development 2 | 618314 |
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:Q9DGL4
|
1023 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp1a1a.2-201
(1)
|
Ensembl | 3,232 nt | ||
| ncRNA |
atp1a1a.2-002
(1)
|
Ensembl | 867 nt |
Interactions and Pathways
No data available
Plasmids
No data available