Gene
atad3
- ID
- ZDB-GENE-040426-1826
- Name
- ATPase family AAA domain containing 3
- Symbol
- atad3 Nomenclature History
- Previous Names
-
- atad3b
- zgc:77371
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable ATP binding activity and ATP hydrolysis activity. Predicted to be involved in anatomical structure morphogenesis. Predicted to be located in membrane and mitochondrial nucleoid. Human ortholog(s) of this gene implicated in Harel-Yoon syndrome and neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome. Orthologous to several human genes including ATAD3B (ATPase family AAA domain containing 3B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Harel-Yoon syndrome | Alliance | Harel-Yoon syndrome | 617183 |
| neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome | Alliance | Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 618810 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | AAA+ ATPase domain | ATPase, AAA-type, core | ATPase family AAA domain-containing protein 3, N-terminal | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|
| UniProtKB:Q6NZU8 | InterPro | 621 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available