TOP3A - DNA topoisomerase III alpha Gene

Homo sapiens

Also known as TOP3; PEOB5; ZGRF7; MGRISCE2

Gene ID: 7156 | Gene type: protein coding

About TOP3A

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:18,271,428-18,314,994 (from NCBI)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TOP3A Protein Structure

Toprim

Topoisom_bac

zf-C4_Topoisom

zf-GRF

0
200
400
600
800
1001 a.a.

Protein Preferred Names

Protein Names

DNA topoisomerase 3-alpha

topo III-alpha

TOP3A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TOP3A	Q13472	RMI1	Homo sapiens	Q9H9A7	X-Ray Diffraction	24509834
Intra	TOP3A	Q13472	RMI1	Homo sapiens	Q9H9A7	Far-WB	16537486
Intra	TOP3A	Q13472	RMI1	Homo sapiens	Q9H9A7	Pull Down	16537486
Intra	TOP3A	Q13472	RMI1	Homo sapiens	Q9H9A7	GMS	24509834
Intra	TOP3A	Q13472	RMI1	Homo sapiens	Q9H9A7	TEM	24509834
Intra	TOP3A	Q13472	BLM	Homo sapiens	P54132	Pull Down	23509288
Intra	TOP3A	Q13472	BLM	Homo sapiens	P54132	TAP	20360068

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2

MGRISCE2

Intrauterine Growth Restriction-Congenital Multiple Cafe-Au-Lait Macules-Increased Sister Chromatid Exchange Syndrome

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5

PEOB5	Progressive External Ophthalmoplegia, Autosomal Recessive 5
Autosomal Recessive Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 5	Autosomal Recessive Progressive External Ophthalmoplegia 5

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

Bloom Syndrome

BLM	Bs
Bls	Bloom-Torre-Machacek Syndrome
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1	Mgrisce1
Congenital Telangiectatic Erythema	Congenital Telangiectatic Erythema Syndrome
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability	Bloom'S Syndrome
Bsyn

Rothmund-Thomson Syndrome, Type 2

Rothmund-Thomson Syndrome	Rts
RTS2	Poikiloderma Of Rothmund-Thomson
Rothmund-Thomson Syndrome Type 2	Congenital Poikiloderma
Poikiloderma Congenitale	Poikiloderma Atrophicans And Cataract
Poikiloderma Congenitale Of Rothmund-Thomson	Poikiloderma Of Rothmund-Thomson Type 2
Rothmund-Thomson Syndrome 2	Erythrokeratodermia Variabilis

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

Baller-Gerold Syndrome

BGS	Craniosynostosis With Radial Defects
Craniosynostosis-Radial Aplasia Syndrome	Craniosynostosis Radial Aplasia Syndrome

Rapadilino Syndrome

Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate	Radial And Patellar Aplasia
Radial And Patellar Hypoplasia	RAPADILINOS

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Myopathy

Muscular Diseases

Myopathies

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Aplastic Anemia

Aplastic Anemia, Susceptibility To	Anemia Aplastic
Idiopathic Aplastic Anemia	Secondary Aplastic Anemia
Idiopathic Bone Marrow Failure	Aplastic Anemia Idiopathic
AA	Anemia, Aplastic
Aplastic Anemia, Idiopathic	Erythroid Aplasia
Aa - [Aplastic Anaemia]	Haematopoietic Aplasia
Aleukia Haemorrhagica	Anaemia Due To Decreased Red Cell Production
Aplasia Bone Marrow	Aplastic Bone Marrow
Hypoplastic Anaemia Nos	Myeloid Bone Marrow Aplasia
Pancytopenia	Panhaematopenia
Hypoproliferative Anaemia	Medullary Hypoplasia
Red Blood Cells Hypoplastic Anaemia	Panmyelophthisis
Panhemocytopenia	Refractive Hypoproliferative Anaemia
Toxic Anaemia	Toxic Aplastic Anaemia
Aplastic Anaemia Due To Toxic Cause	Idiopathic Aplastic Anaemia Nos

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14898	TOP3A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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