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TOP1MT DNA topoisomerase I mitochondrial [ Homo sapiens (human) ]

Gene ID: 116447, updated on 1-Jun-2020

Summary

Official Symbol
TOP1MTprovided by HGNC
Official Full Name
DNA topoisomerase I mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:29787
See related
Ensembl:ENSG00000184428 MIM:606387
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Ubiquitous expression in ovary (RPKM 11.4), bone marrow (RPKM 11.1) and 25 other tissues See more
Orthologs

Genomic context

See TOP1MT in Genome Data Viewer
Location:
8q24.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (143309324..143359977, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144391494..144442147, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene MYC-induced long non-coding RNA Neighboring gene zinc finger protein 696 Neighboring gene RNA, U6 small nuclear 220, pseudogene Neighboring gene RHPN1 antisense RNA 1 (head to head) Neighboring gene rhophilin Rho GTPase binding protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA topoisomerase type I activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA topological change IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
chromosome IEA
Inferred from Electronic Annotation
more info
 
mitochondrial nucleoid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
DNA topoisomerase I, mitochondrial
Names
mitochondrial topoisomerase IB
topoisomerase (DNA) I, mitochondrial
NP_001245375.1
NP_001245376.1
NP_443195.1
XP_005250838.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001258446.1NP_001245375.1  DNA topoisomerase I, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001245375.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AF349017, AK316380, AW248607, DC399840
    Consensus CDS
    CCDS59115.1
    UniProtKB/Swiss-Prot
    Q969P6
    Related
    ENSP00000428369.1, ENST00000521193.5
    Conserved Domains (4) summary
    smart00435
    Location:98474
    TOPEUc; DNA Topoisomerase I (eukaryota)
    pfam01028
    Location:171373
    Topoisom_I; Eukaryotic DNA topoisomerase I, catalytic core
    pfam02919
    Location:1167
    Topoisom_I_N; Eukaryotic DNA topoisomerase I, DNA binding fragment
    pfam14370
    Location:433501
    Topo_C_assoc; C-terminal topoisomerase domain
  2. NM_001258447.1NP_001245376.1  DNA topoisomerase I, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001245376.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AF349017, AK302372, AW248607
    Consensus CDS
    CCDS59115.1
    UniProtKB/Swiss-Prot
    Q969P6
    UniProtKB/TrEMBL
    B4DYD2
    Related
    ENSP00000429169.1, ENST00000519148.5
    Conserved Domains (4) summary
    smart00435
    Location:98474
    TOPEUc; DNA Topoisomerase I (eukaryota)
    pfam01028
    Location:171373
    Topoisom_I; Eukaryotic DNA topoisomerase I, catalytic core
    pfam02919
    Location:1167
    Topoisom_I_N; Eukaryotic DNA topoisomerase I, DNA binding fragment
    pfam14370
    Location:433501
    Topo_C_assoc; C-terminal topoisomerase domain
  3. NM_052963.3NP_443195.1  DNA topoisomerase I, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_443195.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF349017, AW248607
    Consensus CDS
    CCDS6400.1
    UniProtKB/Swiss-Prot
    Q969P6
    UniProtKB/TrEMBL
    E5KMK7
    Related
    ENSP00000328835.3, ENST00000329245.9
    Conserved Domains (4) summary
    smart00435
    Location:196572
    TOPEUc; DNA Topoisomerase I (eukaryota)
    pfam01028
    Location:269471
    Topoisom_I; Eukaryotic DNA topoisomerase I, catalytic core
    pfam02919
    Location:51265
    Topoisom_I_N; Eukaryotic DNA topoisomerase I, DNA binding fragment
    pfam14370
    Location:531599
    Topo_C_assoc; C-terminal topoisomerase domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    143309324..143359977 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250781.4XP_005250838.1  DNA topoisomerase I, mitochondrial isoform X1

    Conserved Domains (4) summary
    smart00435
    Location:196569
    TOPEUc; DNA Topoisomerase I (eukaryota)
    pfam01028
    Location:269471
    Topoisom_I; Eukaryotic DNA topoisomerase I, catalytic core
    pfam02919
    Location:51265
    Topoisom_I_N; Eukaryotic DNA topoisomerase I, DNA binding fragment
    pfam14370
    Location:531569
    Topo_C_assoc; C-terminal topoisomerase domain
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