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  2. TOP1MT - DNA topoisomerase I mitochondrial Gene

TOP1MT - DNA topoisomerase I mitochondrial Gene

中文名称:DNA 拓扑异构酶 I 线粒体

种属: Homo sapiens

基因 ID: 116447 | 基因类型: protein coding

关于 TOP1MT

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:143,309,324-143,359,977 (from NCBI)

This gene has 19 transcripts (splice variants), 78 orthologues and 1 paralogue. Ubiquitous expression in ovary (RPKM 11.4), bone marrow (RPKM 11.1) and 25 other tissues.

功能概要

该基因编码一种线粒体 DNA 拓扑异构酶,在 DNA 拓扑结构的修饰中发挥作用。编码的蛋白质是一种 IB 型拓扑异构酶,催化 DNA 的瞬时断裂和重新连接,以减轻复制和转录过程中线粒体基因组中产生的张力和 DNA 超螺旋。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 5 月]

This gene encodes a mitochondrial DNA Topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB Topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

TOP1MT 基因产物(3)

mRNA Protein Name
NM_001258446.1 NP_001245375.1 DNA topoisomerase I, mitochondrial isoform 2
NM_001258447.1 NP_001245376.1 DNA topoisomerase I, mitochondrial isoform 2
NM_052963.3 NP_443195.1 DNA topoisomerase I, mitochondrial isoform 1 precursor
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial nucleoid IDA
IDA: 通过直接分析推断
18063578 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

TOP1MT 蛋白结构

Topoisom_I_N

Topoisom_I_N: Eukaryotic DNA topoisomerase I, DNA binding fragment (51 - 265)

Topoisom_I

Topoisom_I: Eukaryotic DNA topoisomerase I, catalytic core (269 - 503)

Topo_C_assoc

Topo_C_assoc: C-terminal topoisomerase domain (531 - 601)

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  • 500
  • 601 a.a.
蛋白主名 其他名称

DNA topoisomerase I, mitochondrial

mitochondrial topoisomerase IB

关联疾病

疾病名称 别名
Spinocerebellar Ataxia Type 1 With Axonal Neuropathy

Scan1

Spinocerebellar Ataxia With Axonal Neuropathy Type 1

Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy

Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy

Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy

Spinocerebellar Ataxia With Axonal Neuropathy

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy

Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy

Brown-Vialetto-Van Laere Syndrome 2

BVVLS2

Rfvt3-Related Riboflavin Transporter Deficiency

Rtd3

Riboflavin Transporter Deficiency 3

Brown-Vialetto-Van Laere Syndrome, Type 2

Mitochondrial Dna Depletion Syndrome 4a

Alpers Syndrome

Alpers-Huttenlocher Syndrome

Alpers Progressive Infantile Poliodystrophy

Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

Alpers Disease

Progressive Sclerosing Poliodystrophy

Pndc

Diffuse Cerebral Sclerosis Of Schilder

MTDPS4A

Neuronal Degeneration Of Childhood With Liver Disease, Progressive

Alper'S Syndrome

Alpers' Disease Or Gray-Matter Degeneration

Diffuse Cerebral Degeneration In Infancy

Infantile Poliodystrophy

Poliodystrophia Cerebri Progressiva

Progressive Cerebral Poliodystrophy

Alpers' Disease

Alpers Progressive Sclerosing Poliodystrophy

Progressive Neuronal Degeneration Of Childhood With Liver Disease

Ahs

Mitochondrial Dna Depletion Syndrome 4a Alpers Type

Neuronal Degeneration Of Childhood With Liver Disease Progressive

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
Mus musculus TOP1MT MGD MGI:1920210
Macaca mulatta TOP1MT VGNC VGNC:79821
Rattus norvegicus TOP1MT RGD RGD:1303177