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  2. TOP3A - DNA topoisomerase III alpha Gene

TOP3A - DNA topoisomerase III alpha Gene

中文名称:DNA 拓扑异构酶 III α

种属: Homo sapiens

同用名: TOP3; PEOB5; ZGRF7; MGRISCE2

基因 ID: 7156 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种 DNA 拓扑异构酶,一种在转录过程中控制和改变 DNA 拓扑状态的酶。这种酶催化单条 DNA 链的瞬时断裂和重新连接,允许链彼此穿过,从而减少超螺旋的数量并改变 DNA 的拓扑结构。该酶与 BLM 形成复合物,后者在调节体细胞重组中发挥作用。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2016 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA topoisomerase type I (single strand cut, ATP-independent) activity IDA
IDA: 通过直接分析推断
20445207 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10728666 GOA
enables single-stranded DNA binding IDA
IDA: 通过直接分析推断
29290614 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA topological change IDA
IDA: 通过直接分析推断
20445207 GOA
involved in chromosome separation IMP
IMP: 通过突变表型推断
30057030 GOA
involved in double-strand break repair via homologous recombination IDA
IDA: 通过直接分析推断
23543748 GOA
involved in mitochondrial DNA metabolic process IMP
IMP: 通过突变表型推断
29290614 GOA
involved in resolution of DNA recombination intermediates IDA
IDA: 通过直接分析推断
23543748 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in PML body IDA
IDA: 通过直接分析推断
10728666 GOA
part of RecQ family helicase-topoisomerase III complex IPI
IPI: 通过物理相互作用推断
24984776 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TOP3A 蛋白结构

Toprim

Toprim: Toprim domain (36 - 181)

Topoisom_bac

Topoisom_bac: DNA topoisomerase (196 - 603)

zf-C4_Topoisom

zf-C4_Topoisom: Topoisomerase DNA binding C4 zinc finger (656 - 693)

zf-GRF

zf-GRF: GRF zinc finger (811 - 851)

zf-GRF

zf-GRF: GRF zinc finger (896 - 939)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1001 a.a.
蛋白主名 其他名称

DNA topoisomerase 3-alpha

topo III-alpha

TOP3A 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TOP3A Q13472 RMI1 Homo sapiens Q9H9A7 24509834
种属内
TOP3A Q13472 RMI1 Homo sapiens Q9H9A7 16537486
种属内
TOP3A Q13472 RMI1 Homo sapiens Q9H9A7 16537486
种属内
TOP3A Q13472 RMI1 Homo sapiens Q9H9A7
GMS
24509834
种属内
TOP3A Q13472 RMI1 Homo sapiens Q9H9A7
TEM
24509834
种属内
TOP3A Q13472 BLM Homo sapiens P54132 23509288
种属内
TOP3A Q13472 BLM Homo sapiens P54132
TAP
20360068
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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