TOMM40 Gene Summary [Human]
The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Details
| Type | Protein Coding |
| Official Symbol | TOMM40 |
| Official Name | translocase of outer mitochondrial membrane 40 [Source:HGNC Symbol;Acc:HGNC:18001] |
| Ensembl ID | ENSG00000130204 |
| Bio databases IDs | |
| Aliases | translocase of outer mitochondrial membrane 40 |
| Synonyms | C19orf1, D19S1177E, Mom35, OM38, PER-EC1, TOM40, translocase of outer mitochondrial membrane 40 |
| 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 TOMM40 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein carrier
- Eukaryotic porin
- Eukaryotic porin family that forms channels in the mitochondrial outer membrane
- protein binding
- ion channel
- cation channel
Pathways
Biological processes and signaling networks where the TOMM40 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- metabolic syndrome X
- hyperlipidemia
- coronary artery disease
- vascular dementia
- age-related macular degeneration
- bipolar disorder
- psychosis
- sarcoidosis
- cognitive impairment
role in cell
- apoptosis
- activity
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
- plasma membrane fraction
- membrane fraction
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- endoplasmic reticulum mitochondria contact site
- cell surface
- cellular membrane
- Plasma Membrane
- Mitochondria
- cytosol
- mitochondrial membrane
- mitochondrial outer membrane
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TOMM40 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein targeting to mitochondrion
- ion transport
- protein import into mitochondrial outer membrane
- protein import into mitochondrial matrix
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- membrane
- pore complex
- ER-mitochondrion membrane contact site
- cytosol
- mitochondrial outer membrane
- mitochondrial inner membrane
- mitochondrial outer membrane translocase complex
Molecular Function
What the gene product does at the molecular level
- porin activity
- protein binding
- protein transmembrane transporter activity