Entity Details

Primary name TOP3A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ13472
EntryNameTOP3A_HUMAN
FullNameDNA topoisomerase 3-alpha
TaxID9606
Evidenceevidence at protein level
Length1001
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesTOP3A

GO terms

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GOName
GO:0003677 DNA binding
GO:0003697 single-stranded DNA binding
GO:0003916 DNA topoisomerase activity
GO:0003917 DNA topoisomerase type I (single strand cut, ATP-independent) activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005759 mitochondrial matrix
GO:0006260 DNA replication
GO:0006265 DNA topological change
GO:0008270 zinc ion binding
GO:0016605 PML body
GO:0032042 mitochondrial DNA metabolic process
GO:0051304 chromosome separation
GO:0051321 meiotic cell cycle
GO:1901796 regulation of signal transduction by p53 class mediator

Subcellular Location

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Subcellular Location
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR000380 DNA topoisomerase, type IAFamilyFamily
IPR003601 DNA topoisomerase, type IA, domain 2DomainDomain
IPR003602 DNA topoisomerase, type IA, DNA-binding domainDomainDomain
IPR006171 TOPRIM domainDomainDomain
IPR010666 Zinc finger, GRF-typeDomainDomain
IPR013497 DNA topoisomerase, type IA, centralDomainDomain
IPR013498 DNA topoisomerase, type IA, zn fingerDomainDomain
IPR013824 DNA topoisomerase, type IA, central region, subdomain 1FamilyHomologous superfamily
IPR013825 DNA topoisomerase, type IA, central region, subdomain 2FamilyHomologous superfamily
IPR013826 DNA topoisomerase, type IA, central region, subdomain 3FamilyHomologous superfamily
IPR023405 DNA topoisomerase, type IA, core domainFamilyHomologous superfamily
IPR023406 DNA topoisomerase, type IA, active siteSiteActive site
IPR034144 DNA topoisomerase 3-like, TOPRIM domainDomainDomain

Diseases

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Disease IDSourceNameDescription
618098 OMIMProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 (PEOB5)A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB5 features include slowly progressive ptosis, intermittent double vision, cardiac arrhythmias, exercise intolerance, proximal limb and neck muscle weakness, and cerebellar ataxia. Patients skeletal muscle biopsy show numerous COX-deficient ragged-red fibers, increased mtDNA deletions, and extensive variable mtDNA rearrangements. The disease is caused by variants affecting the gene represented in this entry.
618097 OMIMMicrocephaly, growth restriction, and increased sister chromatid exchange 2 (MGRISCE2)An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disease is caused by variants affecting the gene represented in this entry.