Gene
atp1a1b
- ID
- ZDB-GENE-001212-5
- Name
- ATPase Na+/K+ transporting subunit alpha 1b
- Symbol
- atp1a1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable P-type sodium:potassium-exchanging transporter activity. Predicted to be involved in intracellular monoatomic cation homeostasis and monoatomic cation transmembrane transport. Predicted to act upstream of or within potassium ion transport and sodium ion transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in central nervous system and neural tube. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2DD. Orthologous to human ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb707 (12 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 |
1 - 2 of 2
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 |
1 - 5 of 12 Show all
Domain Details Per Protein
| Protein | Additional Resources | 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:Q9DEU1 | InterPro | 1025 |
1 - 1 of 1
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp1a1b-201
(1)
|
Ensembl | 3,398 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available