TOP3A - DNA topoisomerase III alpha Gene
Also Known as TOP3; PEOB5; ZGRF7; MGRISCE2
Species: Homo sapiens
About TOP3A
This gene has 20 transcripts (splice variants), 1 gene allele, 205 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 4.1), bone marrow (RPKM 3.1) and 25 other tissues.
Summary
This gene encodes a DNA Topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
TOP3A Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001320759.2 | NP_001307688.1 | DNA topoisomerase 3-alpha isoform 2 |
| NM_004618.5 | NP_004609.1 | DNA topoisomerase 3-alpha isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA topoisomerase type I (single strand cut, ATP-independent) activity |
IDA
IDA: Inferred from direct assay
|
20445207 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10728666 | GOA |
| enables single-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
29290614 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in DNA topological change |
IDA
IDA: Inferred from direct assay
|
20445207 | GOA |
| involved in chromosome separation |
IMP
IMP: Inferred from mutant phenotype
|
30057030 | GOA |
| involved in double-strand break repair via homologous recombination |
IDA
IDA: Inferred from direct assay
|
23543748 | GOA |
| involved in mitochondrial DNA metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
29290614 | GOA |
| involved in resolution of DNA recombination intermediates |
IDA
IDA: Inferred from direct assay
|
23543748 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in PML body |
IDA
IDA: Inferred from direct assay
|
10728666 | GOA |
| part of RecQ family helicase-topoisomerase III complex |
IPI
IPI: Inferred from physical interaction
|
24984776 | GOA |
TOP3A Protein Structure
Toprim: Toprim domain (36 - 181)
Topoisom_bac: DNA topoisomerase (196 - 603)
zf-C4_Topoisom: Topoisomerase DNA binding C4 zinc finger (656 - 693)
zf-GRF: GRF zinc finger (811 - 851)
zf-GRF: GRF zinc finger (896 - 939)
- 0
- 200
- 400
- 600
- 800
- 1001 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA topoisomerase 3-alpha |
|
TOP3A Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TOP3A | Q13472 | RMI1 | Homo sapiens | Q9H9A7 | 24509834 | |
|
Intra
|
TOP3A | Q13472 | RMI1 | Homo sapiens | Q9H9A7 | 16537486 | |
|
Intra
|
TOP3A | Q13472 | RMI1 | Homo sapiens | Q9H9A7 | 16537486 | |
|
Intra
|
TOP3A | Q13472 | RMI1 | Homo sapiens | Q9H9A7 | 24509834 | |
|
Intra
|
TOP3A | Q13472 | RMI1 | Homo sapiens | Q9H9A7 | 24509834 | |
|
Intra
|
TOP3A | Q13472 | BLM | Homo sapiens | P54132 | 23509288 | |
|
Intra
|
TOP3A | Q13472 | BLM | Homo sapiens | P54132 | 20360068 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
|
| Mitochondrial Disease |
|
|
| Bloom Syndrome |
|
|
| Rothmund-Thomson Syndrome, Type 2 |
|
|
| Mitochondrial Myopathy |
|
|
| Baller-Gerold Syndrome |
|
|
| Rapadilino Syndrome |
|
|
| Ptosis |
|
|
| Myopathy |
|
|
| Microcephaly |
|
|
| Aplastic Anemia |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | TOP3A | VGNC | VGNC:78622 |
| Canis familiaris | TOP3A | VGNC | VGNC:49633 |
| Bos taurus | TOP3A | VGNC | VGNC:49584 |
| Felis catus | TOP3A | VGNC | VGNC:66450 |
| Mus musculus | TOP3A | MGD | MGI:1197527 |
| Rattus norvegicus | TOP3A | RGD | RGD:1309320 |
| Others | TOP3A | NCBI |