ATAD3A Gene Summary [Human]
This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Details
| Type | Protein Coding |
| Official Symbol | ATAD3A |
| Official Name | ATPase family AAA domain containing 3A [Source:HGNC Symbol;Acc:HGNC:25567] |
| Ensembl ID | ENSG00000197785 |
| Bio databases IDs | |
| Aliases | ATPase family AAA domain containing 3A |
| Synonyms | Atad3, ATPase family AAA domain containing 3A, ATPase family, AAA domain containing 3A, FLJ10709, HAYOS, PHRINL |
| 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 ATAD3A 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)
- protein serine/threonine kinase inhibitor
- ATP binding
- enzyme
- protein binding
- identical protein binding
- ATPase
- ATPase family AAA domain-containing protein 3, N-terminal
- 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
- neoplasia
- Harel-Yoon syndrome
- neonatal lethal pontocerebellar hypoplasia, hypotonia and respiratory insufficiency syndrome
- Alzheimer disease
- type 1 interferonopathy
- hereditary disorder
- head and neck squamous cell carcinoma
- head and neck squamous cell cancer
- autosomal recessive Harel-Yoon syndrome
- suicide attempt
role in cell
- growth
- invasion by
- apoptosis
- expression in
- phosphorylation in
- organization
- DNA damage response
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- endoplasmic reticulum mitochondria contact site
- Mitochondria
- mitochondrial nucleoids
- mitochondrial inner membrane
- nuclear scaffolds
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATAD3A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cell growth
- negative regulation of apoptotic process
- response to DNA damage stimulus
- mitochondrion organization
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial inner membrane
- mitochondrial nucleoid
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding