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  2. TOP3B - DNA topoisomerase III beta Gene

TOP3B - DNA topoisomerase III beta Gene

中文名称:DNA 拓扑异构酶 III β

种属: Homo sapiens

同用名: TOP3B1

基因 ID: 8940 | 基因类型: protein coding

关于 TOP3B

Cytogenetic location: 22q11.22 Genomic coordinates (GRCh38): 22:21,957,025-21,982,787 (from NCBI)

This gene has 17 transcripts (splice variants), 205 orthologues and 1 paralogue. Ubiquitous expression in spleen (RPKM 4.6), lymph node (RPKM 3.7) 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结合,从而使链彼此穿过,从而松弛超螺旋并改变 DNA 的拓扑结构。该酶与 DNA 解旋酶 SGS1 相互作用,并在 DNA 重组、细胞老化和维持基因组稳定性方面发挥作用。该基因的低表达可能与乳腺癌患者较高的存活率有关。该基因在 22 号染色体上有一个假基因。交替剪接导致多个转录变体。已经描述了该基因的其他可变剪接转录变体,但它们的全长性质尚不清楚。[RefSeq 提供,2013 年 8 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 relaxing the supercoils and altering the topology of DNA. The Enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast Cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]

TOP3B 基因产物(9)

mRNA Protein Name
NM_001282112.2 NP_001269041.1 DNA topoisomerase 3-beta-1 isoform 1
NM_001282113.2 NP_001269042.1 DNA topoisomerase 3-beta-1 isoform 1
NM_001349845.2 NP_001336774.1 DNA topoisomerase 3-beta-1 isoform 1
NM_001349847.2 NP_001336776.1 DNA topoisomerase 3-beta-1 isoform 1
NM_001349848.2 NP_001336777.1 DNA topoisomerase 3-beta-1 isoform 2
NM_001349850.2 NP_001336779.1 DNA topoisomerase 3-beta-1 isoform 2
NM_001349851.2 NP_001336780.1 DNA topoisomerase 3-beta-1 isoform 3
NM_001349852.2 NP_001336781.1 DNA topoisomerase 3-beta-1 isoform 3
NM_003935.5 NP_003926.1 DNA topoisomerase 3-beta-1 isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables RNA topoisomerase activity IDA
IDA: 通过直接分析推断
23912945 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of DNA topoisomerase III-beta-TDRD3 complex IPI
IPI: 通过物理相互作用推断
28176834 GOA
located in nucleus IDA
IDA: 通过直接分析推断
23912945 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

TOP3B 蛋白结构

Toprim

Toprim: Toprim domain (4 - 155)

Topoisom_bac

Topoisom_bac: DNA topoisomerase (170 - 582)

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

DNA topoisomerase 3-beta-1

DNA topoisomerase III beta-1

TOP3B 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
TOP3B O95985 MID2 Homo sapiens Q9UJV3-2
Validated Y2H
32296183
种属内
TOP3B O95985 MID2 Homo sapiens Q9UJV3-2
Y2H Array
25416956
种属内
TOP3B O95985 MID2 Homo sapiens Q9UJV3-2
Y2H Array
32296183
种属内
TOP3B O95985 MID2 Homo sapiens Q9UJV3-2
Y2H Prey Pooling
25416956
种属内
TOP3B O95985 MID2 Homo sapiens Q9UJV3-2
Y2H Prey Pooling
32296183
种属内
TOP3B O95985 ADAMTSL4 Homo sapiens Q6UY14-3
Validated Y2H
25416956
种属内
TOP3B O95985 ADAMTSL4 Homo sapiens Q6UY14-3
Y2H Prey Pooling
25416956
种属内
TOP3B O95985 ZNF250 Homo sapiens P15622-3
Validated Y2H
32296183
种属内
TOP3B O95985 ZNF250 Homo sapiens P15622-3
Y2H Array
32296183
种属内
TOP3B O95985 ZNF250 Homo sapiens P15622-3
Y2H Prey Pooling
32296183
种属内
TOP3B O95985 TDRD3 Homo sapiens Q9H7E2-3
X-Ray Diffraction
28176834
种属内
TOP3B O95985 TDRD3 Homo sapiens Q9H7E2-3
Pull Down
28176834
种属内
TOP3B O95985 TDRD3 Homo sapiens Q9H7E2-3
GMS
28176834
种属内
TOP3B O95985 TDRD3 Homo sapiens Q9H7E2-3
Footprinting
28176834
种属内
TOP3B O95985 GPRASP3 Homo sapiens Q6PI77
Validated Y2H
32296183
种属内
TOP3B O95985 GPRASP3 Homo sapiens Q6PI77
Y2H Array
32296183
种属内
TOP3B O95985 GPRASP3 Homo sapiens Q6PI77
Y2H Prey Pooling
32296183
种属内
TOP3B O95985 FASTK Homo sapiens Q14296
Y2H Prey Pooling
32296183
种属内
TOP3B O95985 FASTK Homo sapiens Q14296
Validated Y2H
32296183
种属内
TOP3B O95985 FASTK Homo sapiens Q14296
Y2H Array
32296183
种属内
TOP3B O95985 SSX2IP Homo sapiens Q9Y2D8
Validated Y2H
25416956
种属内
TOP3B O95985 KANK2 Homo sapiens Q63ZY3
Y2H Array
32296183
种属内
TOP3B O95985 KANK2 Homo sapiens Q63ZY3
Y2H Prey Pooling
32296183
种属内
TOP3B O95985 KANK2 Homo sapiens Q63ZY3
Validated Y2H
32296183
种属内
TOP3B O95985 PNMA2 Homo sapiens Q9UL42
Validated Y2H
25416956
种属内
TOP3B O95985 PNMA2 Homo sapiens Q9UL42
Y2H Array
25416956
种属内
TOP3B O95985 AXIN2 Homo sapiens Q9Y2T1
Y2H Prey Pooling
32296183
种属内
TOP3B O95985 AXIN2 Homo sapiens Q9Y2T1
Validated Y2H
32296183
种属内
TOP3B O95985 AXIN2 Homo sapiens Q9Y2T1
Y2H Array
32296183
种属内
TOP3B O95985 SPRED2 Homo sapiens Q7Z698
Validated Y2H
25416956
种属内
TOP3B O95985 SPRED2 Homo sapiens Q7Z698
Y2H Array
25416956
种属内
TOP3B O95985 CIAO1 Homo sapiens O76071
Y2H Prey Pooling
32296183
种属内
TOP3B O95985 CIAO1 Homo sapiens O76071
Y2H Array
32296183
种属内
TOP3B O95985 CIAO1 Homo sapiens O76071
Anti Tag CoIP
33961781
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
Li-Fraumeni Syndrome 2

LFS2

Li-Fraumeni Syndrome, Type 2

Li-Fraumeni Syndrome

Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Microduplication Syndrome

22q11.2 Microduplication Syndrome

22q11.2 Duplication Syndrome

Duplication 22q11.2

Trisomy 22q11.2

22q11.2 Duplication

Dup(22)(Q11)

Kidney Rhabdoid Cancer

Rhabdoid Tumor Of The Kidney

Kidney Rhabdoid Tumor

Renal Rhabdoid Tumor

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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
Felis catus TOP3B VGNC VGNC:66451
Canis familiaris TOP3B VGNC VGNC:49634
Rattus norvegicus TOP3B RGD RGD:1309468
Macaca mulatta TOP3B VGNC VGNC:78623
Mus musculus TOP3B MGD MGI:1333803
Bos taurus TOP3B VGNC VGNC:106991