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
  • atp[a]1A1 (1)
  • cb708 (1)
Type
protein_coding_gene
Location
Chr: 1 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. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including cardiovascular system; immature eye; integument; 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
33 figures from 16 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa13870Allele with one point mutationUnknownPremature StopENU
sa14079Allele with one point mutationUnknownPremature StopENU
sa14454Allele with one point mutationUnknownPremature StopENU
sa17542Allele with one point mutationUnknownPremature StopENU
sa19396Allele with one point mutationUnknownPremature StopENU
sa19397Allele with one point mutationUnknownPremature StopENU
sa32576Allele with one point mutationUnknownSplice SiteENU
sa32577Allele with one point mutationUnknownPremature StopENU
sa39529Allele with one point mutationUnknownPremature StopENU
sa44502Allele with one point mutationUnknownUnknownENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-atp1a1a.4China Zebrafish Resource Center (CZRC)
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Human Disease
Associated With atp1a1a.4 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.4 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:Q90X33 InterPro 1024
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 1
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
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg(atp1a1a.4:EGFP)
  • atp1a1a.4
  • Danio rerio
1 (18)
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-208K14ZFIN Curated Data
EncodesESTcb708 (2)
EncodesESTeu300Thisse et al., 2005
EncodescDNAMGC:64170
    ZFIN Curated Data
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    Sequences
    Orthology
    Comparative Orthology
    Alliance
    Gene Tree
    Ensembl
    Species Symbol Chromosome Accession # Evidence
    HumanATP1A11
    Conserved genome location (synteny) (1)
    Amino acid sequence comparison (2)
    MouseAtp1a13
    Conserved genome location (synteny) (1)
    Amino acid sequence comparison (1)
    Citations
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