Gene

atp6v1aa

ID
ZDB-GENE-040426-1143
Name
ATPase H+ transporting V1 subunit Aa
Symbol
atp6v1aa Nomenclature History
Previous Names
  • atp6v1al
  • HA (1)
  • 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. 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
Comparative Information
Expression
All Expression Data
34 figures from 17 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
9 figures from 5 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
developmental and epileptic encephalopathy 93 Alliance Developmental and epileptic encephalopathy 93 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
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab5-atp6v1a polyclonal Rabbit
  • IHC
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations