Gene

atp1a1a.1

ID
ZDB-GENE-001212-1
Name
ATPase Na+/K+ transporting subunit alpha 1a, tandem duplicate 1
Symbol
atp1a1a.1 Nomenclature History
Previous Names
  • atp1a1
  • atp[a]1B1 (1)
  • cb70 (1)
  • had (1)
  • hip (1)
  • hiphop (1)
  • snk (1)
  • heart and mind (1)
  • snakehead (1)
  • wu:fa03c03
  • wu:fb92h10 (1)
Type
protein_coding_gene
Location
Chr: 1 Mapping Details/Browsers
Description
Enables P-type sodium:potassium-exchanging transporter activity. Acts upstream of or within several processes, including brain development; heart development; and inner ear development. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including cardiovascular system; immature eye; mesoderm; nervous system; and pronephros. 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
Expression
All Expression Data
32 figures from 15 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
40 figures from 13 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
hi3475TgTransgenic insertionIntron 1UnknownDNA
la1Allele with one delinsSplice JunctionSplice Sitespontaneous
la028094TgTransgenic insertionUnknownUnknownDNA
m115unknownUnknownUnknownENU
m273unknownUnknownUnknownENU
m291unknownUnknownUnknownnot specified
m523unknownUnknownUnknownENU
m883Allele with one point mutationExon 11Premature StopENU
mw15bAllele with one delinsExon 17 - Intron 17 Splice JunctionSplice SiteENU
s646unknownUnknownUnknownENU
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Sequence Targeting Reagents
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Human Disease
Associated With atp1a1a.1 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
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Associated With atp1a1a.1 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
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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:Q9DGL6 InterPro 1028
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 1
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA atp1a1a.1-201 (1) Ensembl 3,506 nt
ncRNA atp1a1a.1-002 (1) Ensembl 867 nt
ncRNA atp1a1a.1-003 (1) Ensembl 416 nt
ncRNA atp1a1a.1-004 (1) Ensembl 313 nt
ncRNA atp1a1a.1-005 (1) Ensembl 652 nt
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Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab3-atp1a1 polyclonal Rabbit
  • IHC
1
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Plasmids
No data available
Constructs
No data available
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanATP1A11
Conserved genome location (synteny) (2)
Amino acid sequence comparison (5)
MouseAtp1a13
Amino acid sequence comparison (3)
Conserved genome location (synteny) (1)
Citations
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