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TOP3A - DNA topoisomerase III alpha Gene

Also Known as TOP3; PEOB5; ZGRF7; MGRISCE2

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 7156

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	参考文献	由来
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	参考文献	由来
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	参考文献	由来
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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS14898	TOP3A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21791	Top3a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28307	Top3a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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