Gene
atp1a1a.4
- ID
- ZDB-GENE-001212-4
- Name
- ATPase Na+/K+ transporting subunit alpha 1a, tandem duplicate 4
- Symbol
- atp1a1a.4 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have sodium:potassium-exchanging ATPase activity. Predicted to be involved in cellular monovalent inorganic cation homeostasis and inorganic cation transmembrane transport. 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 cardiovascular system; immature eye; integument; nervous system; and pronephros. Orthologous to human ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 32 figures from 15 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb708 (19 images)
- eu300 (13 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- 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:Q90X33
|
1024 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp1a1a.4-201
(1)
|
Ensembl | 3,246 nt | ||
| ncRNA |
atp1a1a.4-002
(1)
|
Ensembl | 887 nt | ||
| ncRNA |
atp1a1a.4-003
(1)
|
Ensembl | 664 nt |
Interactions and Pathways
No data available
Plasmids
No data available