TOP1MT
DNA topoisomerase I, mitochondrial
Also known as: TOP1M_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q969P6
- Gene
- TOP1MT
- Ensembl
- ENSG00000184428
- Chromosome
- 8
- Canonical length
- 601 aa
- Protein class
- Enzymes, FDA approved drug targets, Predicted intracellular proteins
- Subcellular location
- Mitochondria
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
601 residues, UniProt reviewed canonical sequence.
>Q969P6|TOP1MT
1 MRVVRLLRLR AALTLLGEVP RRPASRGVPG SRRTQKGSGA RWEKEKHEDG VKWRQLEHKG
61 PYFAPPYEPL PDGVRFFYEG RPVRLSVAAE EVATFYGRML DHEYTTKEVF RKNFFNDWRK
121 EMAVEEREVI KSLDKCDFTE IHRYFVDKAA ARKVLSREEK QKLKEEAEKL QQEFGYCILD
181 GHQEKIGNFK IEPPGLFRGR GDHPKMGMLK RRITPEDVVI NCSRDSKIPE PPAGHQWKEV
241 RSDNTVTWLA AWTESVQNSI KYIMLNPCSK LKGETAWQKF ETARRLRGFV DEIRSQYRAD
301 WKSREMKTRQ RAVALYFIDK LALRAGNEKE DGEAADTVGC CSLRVEHVQL HPEADGCQHV
361 VEFDFLGKDC IRYYNRVPVE KPVYKNLQLF MENKDPRDDL FDRLTTTSLN KHLQELMDGL
421 TAKVFRTYNA SITLQEQLRA LTRAEDSIAA KILSYNRANR VVAILCNHQR ATPSTFEKSM
481 QNLQTKIQAK KEQVAEARAE LRRARAEHKA QGDGKSRSVL EKKRRLLEKL QEQLAQLSVQ
541 ATDKEENKQV ALGTSKLNYL DPRISIAWCK RFRVPVEKIY SKTQRERFAW ALAMAGEDFE
601 FLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TOP1MT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 46 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 46 nTPM
- liver: 29 nTPM
- ovary: 27 nTPM
- testis: 22 nTPM
- cervix: 22 nTPM
- skin: 22 nTPM
Single-cell type
- differentiating spermatogonia: 60 nCPM
- late primary spermatocytes: 60 nCPM
- esophageal basal cells: 54 nCPM
- undifferentiated spermatogonia: 52 nCPM
- oocytes: 41 nCPM
- erythrocyte progenitors: 38 nCPM
Immune cell
- myeloid DC: 35 nTPM
- basophil: 31 nTPM
- plasmacytoid DC: 31 nTPM
- memory B-cell: 29 nTPM
- naive CD4 T-cell: 24 nTPM
- naive CD8 T-cell: 19 nTPM
Brain region
- cerebral cortex: 25 nTPM
- basal ganglia: 23 nTPM
- pons: 22 nTPM
- amygdala: 21 nTPM
- white matter: 21 nTPM
- hippocampal formation: 20 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.68
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.11
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- DNA topoisomerase I
- DNA topoisomerase I, DNA binding, eukaryotic-type
- DNA breaking-rejoining enzyme, catalytic core
- DNA topoisomerase I, DNA binding, N-terminal domain 2
- DNA topoisomerase I, DNA binding, N-terminal domain 1
- DNA topoisomerase I, eukaryotic-type
- DNA topoisomerase I, catalytic core, eukaryotic-type
- DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type
- DNA topoisomerase I, catalytic core, alpha/beta subdomain
- DNA topoisomerase IB, active site
- Topoisomerase I C-terminal domain
- DNA topoisomerase I, DNA binding, eukaryotic-type, N-terminal domain superfamily
- DNA topoisomerase I, DNA-binding domain
- DNA topoisomerase IB
- Eukaryotic DNA topoisomerase I, catalytic core
- Eukaryotic DNA topoisomerase I, DNA binding fragment
- C-terminal topoisomerase domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TOP1MT as an antibody target. Whether an autoantibody or antibody against TOP1MT could matter depends on whether native TOP1MT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TOP1MT is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TOP1MT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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