TOP1MT Gene Summary [Human]
This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Details
| Type | Protein Coding |
| Official Symbol | TOP1MT |
| Official Name | DNA topoisomerase I mitochondrial [Source:HGNC Symbol;Acc:HGNC:29787] |
| Ensembl ID | ENSG00000184428 |
| Bio databases IDs | |
| Aliases | DNA topoisomerase I mitochondrial |
| Synonyms | 2900052H09Rik, DNA topoisomerase 1, mitochondrial, DNA topoisomerase I mitochondrial |
| 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 TOP1MT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DNA topoisomerase type I
- DNA breaking-rejoining enzymes, C-terminal catalytic domain
- Eukaryotic DNA topoisomerase I, DNA binding fragment
- DNA Topoisomerase I (eukaryota)
- enzyme
- C-terminal topoisomerase domain
- Eukaryotic DNA topoisomerase I, catalytic core
- Topoisomer_IB_N
- nuclear transport domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- low rectal adenocarcinoma
- advanced colon cancer
- stage II Wilms tumor
- metastatic colon cancer
- metastatic rectal cancer
- advanced rectal cancer
- RAS mutation negative colorectal cancer
- Ewing sarcoma
- surgically resectable pancreatic adenocarcinoma
- microsatellite instability high colon cancer
role in cell
- expression in
- proliferation
- size
- migration
- cell proliferation
- glycolysis in
- function
- recovery in
- respiration in
- consumption in
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
- Mitochondria
- mitochondrial nucleoids
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TOP1MT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA replication
- DNA topological change
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- chromosome
- mitochondrial nucleoid
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- DNA topoisomerase type I activity