TOP1MT - DNA topoisomerase I mitochondrial Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 116447

About 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.

Summary

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 Products (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
Cellular Component GO Annotation Evidence Références Source
located in mitochondrial nucleoid IDA
IDA: Inferred from direct assay
18063578 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

TOP1MT Protein Structure

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)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 601 a.a.
Protein Preferred Names Protein Names

DNA topoisomerase I, mitochondrial

  • mitochondrial topoisomerase IB

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source ID
Mus musculus TOP1MT MGD MGI:1920210
Macaca mulatta TOP1MT VGNC VGNC:79821
Rattus norvegicus TOP1MT RGD RGD:1303177
Others TOP1MT NCBI