Gene

atp6v0a1a

ID
ZDB-GENE-030131-3027
Name
ATPase H+ transporting V0 subunit a1a
Symbol
atp6v0a1a Nomenclature History
Previous Names
  • atp6v0a1
  • wu:fc25b09
  • zgc:76965
Type
protein_coding_gene
Location
Chr: 3 Mapping Details/Browsers
Description
Predicted to enable ATPase binding activity. Acts upstream of or within autophagosome maturation; neural crest cell migration; and phagolysosome assembly. Predicted to be located in membrane. Predicted to be part of vacuolar proton-transporting V-type ATPase complex. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 104. Orthologous to human ATP6V0A1 (ATPase H+ transporting V0 subunit a1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from Peri et al., 2008
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With atp6v0a1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
developmental and epileptic encephalopathy 104 Alliance Developmental and epileptic encephalopathy 104 619970
Neurodevelopmental disorder with epilepsy and brain atrophy 619971
1 - 2 of 2
Associated With atp6v0a1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR002490 V-type ATPase, V0 complex, 116kDa subunit family
Family IPR026028 ATPase, V0 complex, subunit 116kDa, eukaryotic
1 - 2 of 2
Domain Details Per Protein
Protein Additional Resources Length ATPase, V0 complex, subunit 116kDa, eukaryotic V-type ATPase, V0 complex, 116kDa subunit family
UniProtKB:A0A8M2BB25 InterPro 840
UniProtKB:Q6NY92 InterPro 834
1 - 2 of 2
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA atp6v0a1a-201 (1) Ensembl 3,556 nt
1 - 1 of 1
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-atp6v0a1 polyclonal IgG Rabbit
  • WB
Santa Cruz Biotechnology, Inc.
2
1 - 1 of 1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations