ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- 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
-
- 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 Summary
Mutations
Human Disease
| 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 |
Domain, Family, and Site Summary
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 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp6v0a1a-201
(1)
|
Ensembl | 3,556 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-atp6v0a1 | polyclonal | IgG | Rabbit |
|
Santa Cruz Biotechnology, Inc.
|
2 |
Plasmids
No data available
- Genome Browsers