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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 (DNA Topoisomerase III Alpha) is a Protein Coding gene. Diseases associated with TOP3A include Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 and Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5. Among its related pathways are Homologous DNA Pairing and Strand Exchange and Regulation of TP53 Activity. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA topoisomerase activity. An important paralog of this gene is TOP3B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | TAS | 8622991 |
GO:0003697 | single-stranded DNA binding | IDA | 29290614 |
GO:0003916 | DNA topoisomerase activity | IBA | 21873635 |
GO:0003917 | DNA topoisomerase type I activity | IDA | 20445207 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS,IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005694 | chromosome | IEA | -- |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005759 | mitochondrial matrix | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | DNA Double-Strand Break Repair |
.53
|
|
2 | Resolution of D-loop Structures through Holliday Junction Intermediates | ||
3 | Homologous DNA Pairing and Strand Exchange | ||
4 | Regulation of TP53 Activity | ||
5 | Cell Cycle Checkpoints |
.84
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006260 | DNA replication | TAS | -- |
GO:0006265 | DNA topological change | IBA,IDA | 20445207 |
GO:0032042 | mitochondrial DNA metabolic process | IMP | 29290614 |
GO:0051304 | chromosome separation | IMP | 30057030 |
GO:0051321 | meiotic cell cycle | TAS | 8622991 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
ExUns: | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19 | ^ | 20a | · | 20b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||
SP2: | - | ||||||||||||
SP3: | |||||||||||||
SP4: | |||||||||||||
SP5: | |||||||||||||
SP6: | |||||||||||||
SP7: | |||||||||||||
SP8: | |||||||||||||
SP9: | |||||||||||||
SP10: | |||||||||||||
SP11: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TOP3A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TOP3A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Top3a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Top3a 30 |
|
||
Cow (Bos Taurus) |
Mammalia | TOP3A 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TOP3A 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TOP3A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TOP3A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TOP3A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | top3a 30 |
|
||
Str.19892 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.8942 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | top3a 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Top3alpha 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010028 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | top-3 30 31 32 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TOP3 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | TOP3A 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0165000 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636247 | Likely Pathogenic: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | 18,301,899(-) | GAT/G | FRAMESHIFT_VARIANT | |
636248 | Uncertain Significance: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | 18,285,296(-) | T/C | MISSENSE_VARIANT | |
710478 | Likely Benign: not provided | 18,302,619(-) | C/T | MISSENSE_VARIANT | |
717059 | Benign: not provided | 18,278,185(-) | T/C | MISSENSE_VARIANT | |
777025 | Benign: not provided | 18,290,928(-) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1743367 | CNV | insertion | 17803354 |
esv2657654 | CNV | deletion | 23128226 |
esv3554219 | CNV | deletion | 23714750 |
esv3640144 | CNV | loss | 21293372 |
esv3640146 | CNV | gain | 21293372 |
nsv1116191 | CNV | deletion | 24896259 |
nsv1134605 | CNV | deletion | 24896259 |
nsv155 | OTHER | inversion | 15895083 |
nsv428333 | CNV | gain | 18775914 |
nsv499114 | OTHER | inversion | 21111241 |
nsv833386 | CNV | gain | 17160897 |
nsv833387 | CNV | loss | 17160897 |
nsv962274 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
microcephaly, growth restriction, and increased sister chromatid exchange 2 |
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 |
|
|
mitochondrial disorders |
|
|
mitochondrial metabolism disease |
|
|
epilepsy, idiopathic generalized 3 |
|
|