TOP1MT (DNA topoisomerase I mitochondrial)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 116447
Gene name DNA topoisomerase I mitochondrial
Gene symbol TOP1MT
Synonyms (NCBI Gene)
-
Chromosome 8
Chromosome location 8q24.3
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 gen
miRNA miRNA information provided by mirtarbase database.
22
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (22)
miRTarBase ID miRNA Experiments Reference
MIRT529927 hsa-miR-1278 PAR-CLIP 22012620
MIRT529926 hsa-miR-4712-5p PAR-CLIP 22012620
MIRT529925 hsa-miR-770-5p PAR-CLIP 22012620
MIRT529924 hsa-miR-633 PAR-CLIP 22012620
MIRT529923 hsa-miR-3606-5p PAR-CLIP 22012620
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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Transcription factor Regulation Reference
MYC Unknown 21531700
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003916 Function DNA topoisomerase activity IEA
GO:0003917 Function DNA topoisomerase type I (single strand cut, ATP-independent) activity IBA
GO:0003917 Function DNA topoisomerase type I (single strand cut, ATP-independent) activity IEA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606387 29787 ENSG00000184428
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q969P6
Protein name DNA topoisomerase I, mitochondrial (TOP1mt) (EC 5.6.2.1)
Protein function Releases the supercoiling and torsional tension of DNA introduced during duplication of mitochondrial DNA by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target si
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02919 Topoisom_I_N 51 → 265 Eukaryotic DNA topoisomerase I, DNA binding fragment Family
PF01028 Topoisom_I 268 → 501 Eukaryotic DNA topoisomerase I, catalytic core Domain
PF14370 Topo_C_assoc 531 → 601 C-terminal topoisomerase domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous; highest in skeletal muscle, heart, brain and fetal liver. {ECO:0000269|PubMed:11526219}.
Sequence
Sequence length 601
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (10)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Familial cancer of breast Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autoimmune Diseases Autoimmune disease Pubtator 37129502 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28819183
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28819183 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 28819183
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Hypertrophic Hypertrophic cardiomyopathy Pubtator 36030054 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 26305952
★★★★★
★☆☆☆☆
Found in Text Mining only
Hepatitis C Hepatitis c Pubtator 36405960 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 21531700 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Systemic lupus erythematosus Pubtator 37129502 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 28819183
★★★★★
★☆☆☆☆
Found in Text Mining only