Gene

atp6v1aa

ID
ZDB-GENE-040426-1143
Name
ATPase H+ transporting V1 subunit Aa
Symbol
atp6v1aa Nomenclature History
Previous Names
  • atp6v1al
  • zgc:63516
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Exhibits proton transmembrane transporter activity. Involved in cellular calcium ion homeostasis; cellular sodium ion homeostasis; and proton transmembrane transport. Predicted to localize to apical plasma membrane and vacuolar membrane. Is expressed in several structures, including extension; hatching gland; integument; ionocyte progenitor cell; and sensory system. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IID and childhood onset epileptic encephalopathy. Orthologous to human ATP6V1A (ATPase H+ transporting V1 subunit A).
Genome Resources
Note
None
Expression
All Expression Data
33 figures from 16 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With atp6v1aa Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive cutis laxa type IID Alliance Cutis laxa, autosomal recessive, type IID 617403
Epileptic encephalopathy, infantile or early childhood, 3 618012
Associated With atp6v1aa Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR020003 ATPase, alpha/beta subunit, nucleotide-binding domain, active site
Domain IPR000194 ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain
Domain IPR004100 ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain
Domain IPR031686 ATPsynthase alpha/beta subunit, N-terminal extension
Family IPR005725 ATPase, V1 complex, subunit A
Family IPR022878 V-type ATP synthase catalytic alpha chain
Homologous_superfamily IPR023366 ATP synthase subunit alpha, N-terminal domain-like superfamily
Homologous_superfamily IPR024034 ATPase, F1/V1 complex, beta/alpha subunit, C-terminal
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR036121 ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain superfamily
Domain Details Per Protein
Protein Length ATPase, alpha/beta subunit, nucleotide-binding domain, active site ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain superfamily ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain ATPase, F1/V1 complex, beta/alpha subunit, C-terminal ATPase, V1 complex, subunit A ATPsynthase alpha/beta subunit, N-terminal extension ATP synthase subunit alpha, N-terminal domain-like superfamily P-loop containing nucleoside triphosphate hydrolase V-type ATP synthase catalytic alpha chain
UniProtKB:A2BEN1 617
UniProtKB:Q7SY46 617
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations