TOP1MT - DNA topoisomerase I mitochondrial Gene
Species: Homo sapiens
About TOP1MT
This gene has 19 transcripts (splice variants), 78 orthologues and 1 paralogue. Ubiquitous expression in ovary (RPKM 11.4), bone marrow (RPKM 11.1) and 25 other tissues.
Summary
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]
TOP1MT Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001258446.1 | NP_001245375.1 | DNA topoisomerase I, mitochondrial isoform 2 |
| NM_001258447.1 | NP_001245376.1 | DNA topoisomerase I, mitochondrial isoform 2 |
| NM_052963.3 | NP_443195.1 | DNA topoisomerase I, mitochondrial isoform 1 precursor |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| located in mitochondrial nucleoid |
IDA
IDA: Inferred from direct assay
|
18063578 | GOA |
TOP1MT Protein Structure
Topoisom_I_N: Eukaryotic DNA topoisomerase I, DNA binding fragment (51 - 265)
Topoisom_I: Eukaryotic DNA topoisomerase I, catalytic core (269 - 503)
Topo_C_assoc: C-terminal topoisomerase domain (531 - 601)
- 0
- 100
- 200
- 300
- 400
- 500
- 601 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA topoisomerase I, mitochondrial |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spinocerebellar Ataxia Type 1 With Axonal Neuropathy |
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| Brown-Vialetto-Van Laere Syndrome 2 |
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| Mitochondrial Dna Depletion Syndrome 4a |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | TOP1MT | MGD | MGI:1920210 |
| Macaca mulatta | TOP1MT | VGNC | VGNC:79821 |
| Rattus norvegicus | TOP1MT | RGD | RGD:1303177 |
| Others | TOP1MT | NCBI |