ATAD1 Gene Summary [Human]
Predicted to enable ATP binding activity and transmembrane protein dislocase activity. Involved in extraction of mislocalized protein from mitochondrial outer membrane. Located in mitochondrial outer membrane and peroxisomal membrane. Implicated in hyperekplexia 4. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | ATAD1 |
| Official Name | ATPase family AAA domain containing 1 [Source:HGNC Symbol;Acc:HGNC:25903] |
| Ensembl ID | ENSG00000138138 |
| Bio databases IDs | |
| Aliases | ATPase family AAA domain containing 1, thorase |
| Synonyms | 4921525H23Rik, Ab2-088, AFDC1, ATPase family AAA domain containing 1, ATPase family, AAA domain containing 1, FNP001, hATAD1, HKPX4, Msp1, THORASE |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ATAD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATPase family associated with various cellular activities (AAA)
- enzyme
- protein binding
- AAA+ lid domain
- ATPase
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- hereditary hyperekplexia type 4
- seizures
- Alzheimer disease
- major depression
- infection by Hepatitis C virus genotype 2
regulates
- Ns5b
role in cell
- degradation in
- long-term potentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- glutaminergic synapse
- postsynaptic region
- Mitochondria
- cytosol
- postsynaptic membrane
- mitochondrial outer membrane
- peroxisome membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATAD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of receptor internalization
- negative regulation of synaptic transmission, glutamatergic
- learning
- memory
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- postsynaptic membrane
- membrane
- cytosol
- mitochondrial outer membrane
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding