TOP1MT
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Summary
TOP1MT (DNA topoisomerase I mitochondrial, HGNC:29787) is a protein-coding gene on chromosome 8q24.3, encoding DNA topoisomerase I, mitochondrial (Q969P6). 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.
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.
Source: NCBI Gene 116447 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 338 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_052963
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29787 |
| Approved symbol | TOP1MT |
| Name | DNA topoisomerase I mitochondrial |
| Location | 8q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000184428 |
| Ensembl biotype | protein_coding |
| OMIM | 606387 |
| Entrez | 116447 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 17 protein_coding, 3 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 1 retained_intron
ENST00000329245, ENST00000505857, ENST00000517857, ENST00000518007, ENST00000518760, ENST00000518951, ENST00000519139, ENST00000519148, ENST00000519591, ENST00000519977, ENST00000520950, ENST00000521024, ENST00000521193, ENST00000522041, ENST00000522043, ENST00000522121, ENST00000523417, ENST00000523676, ENST00000524092, ENST00000870173, ENST00000870174, ENST00000915787, ENST00000969804, ENST00000969805
RefSeq mRNA: 3 — MANE Select: NM_052963
NM_001258446, NM_001258447, NM_052963
CCDS: CCDS59115, CCDS6400
Canonical transcript exons
ENST00000329245 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001290782 | 143310068 | 143310217 |
| ENSE00001304637 | 143315999 | 143316126 |
| ENSE00001326407 | 143317723 | 143317837 |
| ENSE00001327107 | 143315727 | 143315821 |
| ENSE00001647874 | 143325346 | 143325533 |
| ENSE00002107768 | 143309324 | 143309543 |
| ENSE00002113801 | 143334740 | 143334880 |
| ENSE00003404135 | 143318018 | 143318086 |
| ENSE00003484021 | 143324485 | 143324629 |
| ENSE00003522217 | 143331224 | 143331339 |
| ENSE00003522777 | 143326222 | 143326344 |
| ENSE00003535041 | 143321201 | 143321386 |
| ENSE00003571829 | 143329350 | 143329471 |
| ENSE00003624260 | 143323999 | 143324142 |
Expression profiles
Bgee: expression breadth ubiquitous, 203 present calls, max score 92.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.3737 / max 626.4679, expressed in 1803 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 95460 | 20.3287 | 1803 |
| 95463 | 0.0153 | 4 |
| 95462 | 0.0110 | 5 |
| 95464 | 0.0099 | 5 |
| 95459 | 0.0088 | 6 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 92.81 | gold quality |
| sural nerve | UBERON:0015488 | 91.27 | gold quality |
| left ovary | UBERON:0002119 | 90.40 | gold quality |
| left testis | UBERON:0004533 | 89.97 | gold quality |
| thymus | UBERON:0002370 | 89.96 | gold quality |
| right testis | UBERON:0004534 | 89.86 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 89.69 | gold quality |
| right ovary | UBERON:0002118 | 89.57 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 89.33 | gold quality |
| testis | UBERON:0000473 | 88.87 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.86 | gold quality |
| endocervix | UBERON:0000458 | 88.76 | gold quality |
| skin of abdomen | UBERON:0001416 | 88.74 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.67 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.55 | gold quality |
| thyroid gland | UBERON:0002046 | 88.37 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.30 | gold quality |
| ectocervix | UBERON:0012249 | 88.22 | gold quality |
| ovary | UBERON:0000992 | 87.92 | gold quality |
| left adrenal gland | UBERON:0001234 | 87.78 | gold quality |
| skin of leg | UBERON:0001511 | 87.76 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 87.70 | gold quality |
| adrenal cortex | UBERON:0001235 | 87.62 | gold quality |
| uterine cervix | UBERON:0000002 | 87.11 | gold quality |
| right uterine tube | UBERON:0001302 | 86.94 | gold quality |
| liver | UBERON:0002107 | 86.93 | gold quality |
| esophagus mucosa | UBERON:0002469 | 86.68 | gold quality |
| body of pancreas | UBERON:0001150 | 86.67 | gold quality |
| zone of skin | UBERON:0000014 | 86.65 | gold quality |
| adrenal gland | UBERON:0002369 | 86.43 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9067 | yes | 14.35 |
| E-CURD-112 | yes | 9.50 |
| E-ANND-3 | yes | 5.55 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC
miRNA regulators (miRDB)
5 targeting TOP1MT, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-3606-5P | 99.31 | 69.67 | 1168 |
| HSA-MIR-2355-5P | 98.83 | 65.51 | 1589 |
| HSA-MIR-633 | 98.35 | 69.45 | 1167 |
Literature-anchored findings (GeneRIF, showing 9)
- DNA topoisomerase I stimulates BLM helicase activity on a nucleolar-relevant RNA:DNA hybrid. (PMID:23261817)
- Data reported in this paper indicate that hTop IB does not confer to the cells radio-resistance, but the kinetic analysis of both DNA repair rate as well as colonies growth, demonstrates that the cells containing hTop IB show a more efficient rescue from IR injury. (PMID:23422507)
- Data indicate that the different coordination geometry achieved by the two transition metal ions has an important role in modulating their efficiency as topoisomerase I inhibitors. (PMID:24172750)
- This report was the first to focus on the role of TOP1MT in tumors. We identified a new mechanism underlying TOP1MT-deficient gastric cancer (GC) metastasis and showed that TOP1MT played an important role in cancer cells. (PMID:28874393)
- Study demonstrated that lack of TOP1MT results in delayed and decreased tumor growth due to impaired mitochondrial translation. The TOP1MT genomic signature profile, based on mouse model for Top1mt-KO liver cancers, is correlated with enhanced survival of hepatocellular carcinoma patients. (PMID:30622257)
- Functional characterization of two variants of mitochondrial topoisomerase TOP1MT that impact regulation of the mitochondrial genome. (PMID:36030054)
- Two type I topoisomerases maintain DNA topology in human mitochondria. (PMID:36215039)
- Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT. (PMID:37129502)
- Association of TOP1MT with immune infiltration and checkpoint in colorectal cance. (PMID:37923603)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Top1mt | ENSMUSG00000000934 |
| rattus_norvegicus | Top1mt | ENSRNOG00000007500 |
Paralogs (1): TOP1 (ENSG00000198900)
Protein
Protein identifiers
DNA topoisomerase I, mitochondrial — Q969P6 (reviewed: Q969P6)
All UniProt accessions (13): E5KMK7, E5RFE3, E5RFS0, E5RGE7, E5RGR2, E5RGR4, E5RIC7, E5RJ33, E5RJ95, H0YAR3, H0YBR3, H0YC03, Q969P6
UniProt curated annotations — full annotation on UniProt →
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 site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3’-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5’-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, thus removing DNA supercoils. Finally, in the religation step, the DNA 5’-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone.
Subcellular location. Mitochondrion.
Tissue specificity. Ubiquitous; highest in skeletal muscle, heart, brain and fetal liver.
Cofactor. Divalent metal ions (calcium or magnesium).
Similarity. Belongs to the type IB topoisomerase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q969P6-1 | 1 | yes |
| Q969P6-2 | 2 |
RefSeq proteins (3): NP_001245375, NP_001245376, NP_443195* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001631 | TopoI | Family |
| IPR008336 | TopoI_DNA-bd_euk | Domain |
| IPR011010 | DNA_brk_join_enz | Homologous_superfamily |
| IPR013030 | DNA_topo_DNA_db_N_dom2 | Homologous_superfamily |
| IPR013034 | DNA_topo_DNA_db_N_dom1 | Homologous_superfamily |
| IPR013499 | TopoI_euk | Domain |
| IPR013500 | TopoI_cat_euk | Domain |
| IPR014711 | TopoI_cat_a-hlx-sub_euk | Homologous_superfamily |
| IPR014727 | TopoI_cat_a/b-sub_euk | Homologous_superfamily |
| IPR018521 | TopoIB_AS | Active_site |
| IPR025834 | TopoI_C_dom | Domain |
| IPR036202 | TopoI_DNA-bd_euk_N_sf | Homologous_superfamily |
| IPR048045 | Topoisomer_I_DNA-bd | Domain |
| IPR051062 | Topoisomerase_IB | Family |
Pfam: PF01028, PF02919, PF14370
Enzyme classification (BRENDA):
- EC 5.6.2.1 — DNA topoisomerase (BRENDA: 73 organisms, 262 substrates, 1102 inhibitors, 6 Km, 1 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| NEGATIVELY SUPERCOILED PLASMID PXXZ06 DNA | — | 1 |
UniProt features (21 total): site 9, region of interest 4, sequence variant 2, transit peptide 1, chain 1, splice variant 1, domain 1, sequence conflict 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q969P6-F1 | 91.07 | 0.88 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (10): 248 (interaction with dna); 279 (interaction with dna); 337 (interaction with dna); 368 (interaction with dna); 410 (interaction with dna); 468 (interaction with dna); 486 (interaction with dna); 559 (o-(3’-phospho-dna)-tyrosine intermediate); 152 (interaction with dna); 200 (interaction with dna)
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 123 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_CHROMOSOME_ORGANIZATION, SHEPARD_BMYB_MORPHOLINO_DN, GOBP_DNA_CONFORMATION_CHANGE, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, DOUGLAS_BMI1_TARGETS_UP, CUI_TCF21_TARGETS_2_DN, GOBP_DNA_REPLICATION, GOCC_NUCLEOID, NUYTTEN_EZH2_TARGETS_DN, GOCC_MITOCHONDRIAL_MATRIX, GOBP_DNA_METABOLIC_PROCESS, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON, GOMF_ISOMERASE_ACTIVITY
GO Biological Process (2): DNA replication (GO:0006260), DNA topological change (GO:0006265)
GO Molecular Function (4): DNA binding (GO:0003677), DNA topoisomerase type I (single strand cut, ATP-independent) activity (GO:0003917), DNA topoisomerase activity (GO:0003916), isomerase activity (GO:0016853)
GO Cellular Component (5): nucleoplasm (GO:0005654), chromosome (GO:0005694), mitochondrion (GO:0005739), mitochondrial nucleoid (GO:0042645), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA metabolic process | 2 |
| intracellular membraneless organelle | 2 |
| intracellular membrane-bounded organelle | 2 |
| DNA biosynthetic process | 1 |
| DNA conformation change | 1 |
| nucleic acid binding | 1 |
| DNA topoisomerase activity | 1 |
| DNA binding | 1 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on DNA | 1 |
| catalytic activity | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| mitochondrion | 1 |
| mitochondrial matrix | 1 |
| nucleoid | 1 |
Protein interactions and networks
STRING
1634 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TOP1MT | TOP2B | Q02880 | 929 |
| TOP1MT | TOP2A | P11388 | 902 |
| TOP1MT | TOP3A | Q13472 | 847 |
| TOP1MT | TP53 | P04637 | 828 |
| TOP1MT | RMI1 | Q9H9A7 | 699 |
| TOP1MT | TDP1 | Q9NUW8 | 689 |
| TOP1MT | WRN | Q14191 | 685 |
| TOP1MT | PARP1 | P09874 | 677 |
| TOP1MT | EXO1 | Q9UQ84 | 671 |
| TOP1MT | POLRMT | O00411 | 670 |
| TOP1MT | RNASEH2A | O75792 | 630 |
| TOP1MT | WDHD1 | O75717 | 606 |
| TOP1MT | CDC45 | O75419 | 601 |
| TOP1MT | FBL | P22087 | 578 |
| TOP1MT | TOP3B | O95985 | 577 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NFKB1 | IKBKB | psi-mi:“MI:0914”(association) | 0.770 |
| TP53 | TOP1MT | psi-mi:“MI:0915”(physical association) | 0.400 |
| H2BC21 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| SSRP1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| TOP1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| CEP89 | MLLT3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (42): TOP1MT (Reconstituted Complex), TOP1MT (Affinity Capture-MS), TOP1MT (Affinity Capture-MS), TOP1MT (Affinity Capture-MS), TOP1MT (Affinity Capture-MS), TOP1MT (Affinity Capture-MS), TOP1MT (Affinity Capture-MS), TOP1MT (Affinity Capture-MS), TOP1MT (Affinity Capture-MS), TOP1MT (Affinity Capture-MS), TOP1MT (Affinity Capture-MS), TOP1MT (Affinity Capture-MS), TOP1MT (Affinity Capture-MS), TOP1MT (Affinity Capture-MS), TOP1MT (Affinity Capture-MS)
ESM2 similar proteins: A0A0L0P4F8, A3KN83, A8XEA2, A9Q1D5, A9UL78, B2GUV7, G5EDG2, O17966, O36966, O95251, P04786, P07799, P0CL88, P0CL89, P11387, P30181, P30189, P41511, P41512, P93119, Q00313, Q04750, Q05D44, Q06698, Q07050, Q09475, Q23243, Q23541, Q27746, Q4IEV4, Q4P3S3, Q54RC3, Q54UU6, Q5BJL5, Q5F1R6, Q5F371, Q5SVQ0, Q5UQH6, Q61T02, Q689Z5
Diamond homologs: A0A0L0P4F8, A9Q1D5, O17966, P04786, P07799, P11387, P30181, P30189, P41511, P41512, P93119, Q00313, Q04750, Q07050, Q54RC3, Q6IM78, Q7YR26, Q8R4U6, Q969P6, Q9FJ79, Q9WUL0
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| irinotecan | “down-regulates activity” | TOP1MT | “chemical inhibition” |
| topotecan | “down-regulates activity” | TOP1MT | “chemical inhibition” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
338 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 195 |
| Likely benign | 91 |
| Benign | 29 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2748 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:143310216:CA:C | acceptor_gain | 1.0000 |
| 8:143310218:C:CC | acceptor_gain | 1.0000 |
| 8:143315983:T:A | donor_gain | 1.0000 |
| 8:143317963:C:CA | donor_gain | 1.0000 |
| 8:143317970:A:AC | donor_gain | 1.0000 |
| 8:143317971:C:CC | donor_gain | 1.0000 |
| 8:143318016:A:AC | donor_gain | 1.0000 |
| 8:143318017:C:CC | donor_gain | 1.0000 |
| 8:143318084:CAC:C | acceptor_gain | 1.0000 |
| 8:143318085:ACCT:A | acceptor_loss | 1.0000 |
| 8:143318087:C:CC | acceptor_gain | 1.0000 |
| 8:143318088:T:A | acceptor_loss | 1.0000 |
| 8:143324138:TCCCC:T | acceptor_gain | 1.0000 |
| 8:143324139:CCCC:C | acceptor_gain | 1.0000 |
| 8:143324139:CCCCC:C | acceptor_gain | 1.0000 |
| 8:143324140:CCC:C | acceptor_gain | 1.0000 |
| 8:143324140:CCCC:C | acceptor_gain | 1.0000 |
| 8:143324141:CC:C | acceptor_gain | 1.0000 |
| 8:143324141:CCC:C | acceptor_gain | 1.0000 |
| 8:143324142:CC:C | acceptor_gain | 1.0000 |
| 8:143324143:C:CC | acceptor_gain | 1.0000 |
| 8:143324143:C:T | acceptor_gain | 1.0000 |
| 8:143324143:CTA:C | acceptor_loss | 1.0000 |
| 8:143324148:C:CT | acceptor_gain | 1.0000 |
| 8:143324149:G:T | acceptor_gain | 1.0000 |
| 8:143324156:A:C | acceptor_gain | 1.0000 |
| 8:143324480:CTCA:C | donor_loss | 1.0000 |
| 8:143324481:TCA:T | donor_loss | 1.0000 |
| 8:143324482:CAC:C | donor_loss | 1.0000 |
| 8:143324483:ACCT:A | donor_loss | 1.0000 |
AlphaMissense
3954 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:143324592:A:G | W237R | 0.973 |
| 8:143324592:A:T | W237R | 0.973 |
| 8:143329358:A:G | W118R | 0.971 |
| 8:143329358:A:T | W118R | 0.971 |
| 8:143329380:G:C | F110L | 0.970 |
| 8:143329380:G:T | F110L | 0.970 |
| 8:143329382:A:G | F110L | 0.970 |
| 8:143329368:G:C | F114L | 0.969 |
| 8:143329368:G:T | F114L | 0.969 |
| 8:143329370:A:G | F114L | 0.969 |
| 8:143321252:G:C | F365L | 0.967 |
| 8:143321252:G:T | F365L | 0.967 |
| 8:143321254:A:G | F365L | 0.967 |
| 8:143325398:C:A | G207W | 0.966 |
| 8:143329432:G:T | A93D | 0.964 |
| 8:143324590:C:A | W237C | 0.963 |
| 8:143324590:C:G | W237C | 0.963 |
| 8:143326291:G:C | F138L | 0.963 |
| 8:143326291:G:T | F138L | 0.963 |
| 8:143326293:A:G | F138L | 0.963 |
| 8:143309444:G:C | F601L | 0.961 |
| 8:143309444:G:T | F601L | 0.961 |
| 8:143309446:A:G | F601L | 0.961 |
| 8:143310076:G:C | S565R | 0.958 |
| 8:143310076:G:T | S565R | 0.958 |
| 8:143310078:T:G | S565R | 0.958 |
| 8:143325398:C:G | G207R | 0.958 |
| 8:143325398:C:T | G207R | 0.958 |
| 8:143329433:C:G | A93P | 0.956 |
| 8:143326292:A:G | F138S | 0.953 |
dbSNP variants (sampled 300 via entrez): RS1000051003 (8:143338869 C>T), RS1000063713 (8:143312321 C>A,T), RS1000086826 (8:143337197 C>T), RS1000124488 (8:143318779 G>A), RS1000187372 (8:143353179 C>T), RS1000230619 (8:143319015 T>A,G), RS1000260556 (8:143359717 C>A,T), RS1000264820 (8:143342878 G>A), RS1000265246 (8:143356208 G>A), RS1000269611 (8:143309239 T>A,C,G), RS1000388578 (8:143315182 G>A,C), RS1000611256 (8:143358028 A>T), RS1000613727 (8:143324158 A>T), RS1000683419 (8:143324933 T>C), RS1000697476 (8:143346838 G>A,C)
Disease associations
OMIM: gene MIM:606387 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): premature menopause (MONDO:0001119), sensorineural hearing loss disorder (MONDO:0020678)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000407 | Sensorineural hearing impairment |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008839_50 | Height | 1.000000e-15 |
| GCST012227_47 | Hip circumference adjusted for BMI | 1.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008594 | Menopause, Premature | C12.050.351.500.056.630.250; C12.100.250.056.630.250; G08.686.157.500.500; G08.686.841.249.500.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — DNA topoisomerases
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, increases methylation, decreases expression | 2 |
| Valproic Acid | decreases expression, increases methylation, affects expression | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Benztropine | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Clozapine | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Asbestos, Crocidolite | increases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Thapsigargin | increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3JV | Abcam HEK293T TOP1MT KO | Transformed cell line | Female |
| CVCL_TT30 | HAP1 TOP1MT (-) 1 | Cancer cell line | Male |
| CVCL_TT31 | HAP1 TOP1MT (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
171 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00417066 | PHASE4 | COMPLETED | Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders |
| NCT00732693 | PHASE4 | COMPLETED | Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure |
| NCT00837616 | PHASE4 | COMPLETED | Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism |
| NCT01853501 | PHASE4 | UNKNOWN | Effects of ADSC Therapy in Women With POF |
| NCT02783937 | PHASE4 | COMPLETED | Filgrastim for Premature Ovarian Insufficiency |
| NCT03535480 | PHASE4 | UNKNOWN | Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure |
| NCT00140998 | PHASE3 | COMPLETED | Estrogen Treatment (Oral vs. Patches) in Turner Syndrome |
| NCT01655212 | PHASE3 | TERMINATED | Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial |
| NCT02005822 | PHASE3 | COMPLETED | Congenital Cytomegalovirus: Efficacy of Antiviral Treatment |
| NCT03374514 | PHASE3 | UNKNOWN | Cochlear Electrical Impedance and the Effect of Topical Dexamethasone on Cochlear Implant Surgery |
| NCT00001951 | PHASE2 | COMPLETED | Hormone Replacement in Young Women With Premature Ovarian Failure |
| NCT00370019 | PHASE2 | WITHDRAWN | Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure |
| NCT00429494 | PHASE2 | COMPLETED | GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients |
| NCT03816852 | PHASE2 | SUSPENDED | The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency |
| NCT04536467 | PHASE2 | UNKNOWN | Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients |
| NCT06117982 | PHASE2 | COMPLETED | The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency |
| NCT02497690 | PHASE2 | COMPLETED | Effectiveness of Therapy Via Telemedicine Following Cochlear Implants |
| NCT03107871 | PHASE2 | ACTIVE_NOT_RECRUITING | Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants |
| NCT04120116 | PHASE2 | COMPLETED | FX-322 in Adults With Stable Sensorineural Hearing Loss |
| NCT05061758 | PHASE2 | WITHDRAWN | A Trial of LY3056480 in Patients With SNLH |
| NCT07364747 | PHASE2 | RECRUITING | Protective Effect of Acetylcysteine Against Cisplatinum-Induced Ototoxicity: A Randomized Controlled Trial |
| NCT02912104 | PHASE1 | COMPLETED | A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure |
| NCT03178695 | PHASE1 | COMPLETED | Inovium Ovarian Rejuvenation Trials |
| NCT04815213 | PHASE1 | ACTIVE_NOT_RECRUITING | The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans |
| NCT05138367 | PHASE1 | COMPLETED | Effects of UCA-PSCs in Women With POF |
| NCT06132542 | PHASE1 | UNKNOWN | Autologous ADMSC Transplantation in Patients With POI |
| NCT02259595 | PHASE1 | COMPLETED | Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC |
| NCT00948857 | PHASE2/PHASE3 | TERMINATED | Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) |
| NCT04031456 | PHASE2/PHASE3 | RECRUITING | Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients |
| NCT02043743 | PHASE1/PHASE2 | UNKNOWN | Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure |
| NCT02062931 | PHASE1/PHASE2 | UNKNOWN | Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure |
| NCT02151890 | PHASE1/PHASE2 | COMPLETED | Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure |
| NCT02372474 | PHASE1/PHASE2 | COMPLETED | It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure |
| NCT02603744 | PHASE1/PHASE2 | UNKNOWN | Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) |
| NCT02644447 | PHASE1/PHASE2 | COMPLETED | Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF |
| NCT03069209 | PHASE1/PHASE2 | UNKNOWN | Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF) |
| NCT03985462 | PHASE1/PHASE2 | WITHDRAWN | Very Small Embryonic-like Stem Cells for Ovary |
| NCT04009473 | PHASE1/PHASE2 | UNKNOWN | Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation |
| NCT04071574 | PHASE1/PHASE2 | COMPLETED | Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility |
| NCT04922398 | PHASE1/PHASE2 | UNKNOWN | Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): premature menopause, sensorineural hearing loss disorder