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
  • atp[a]1A2b (1)
  • cb703 (1)
  • zgc:110523
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
Expression
All Expression Data
24 figures from 11 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Minhas et al., 2021
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With atp1a1a.2 Human Ortholog
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
Associated With atp1a1a.2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
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-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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations