| Note | type I DNA topoisomerase, EC (5.99.1.2) |
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| |  |
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| | The arrow indicates the breaking point of translocation, and the star denotes the sites of point mutation. |
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| Description | 765 amino acids, about 100kDa; contains NLS in the N-term, a core domain which recognizes its binding sequences, a link domain which connects the core and catalytic domains, and the catalytic domain in the C-term. |
| Expression | Ubiquitous. The expression level is up-regulated along with cell proliferation signals. |
| Localisation | Nucleus |
| Function | TOP1 catalyzes the breaking and rejoining of single DNA strand. |
| Homology | The core and catalytic domains are conserved between the human and S.cerevisiae enzyme. |
| Potential role for DNA topoisomerase II poisons in the generation of t(11;20)(p15;q11) translocations. |
| Ahuja HG, Felix CA, Aplan PD |
| Genes, chromosomes & cancer. 2000 ; 29 (2) : 96-105. |
| PMID 10959088 |
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| Generation of the NUP98-TOP1 fusion transcript by the t(11;20) (p15;q11) in a case of acute monocytic leukemia. |
| Chen S, Xue Y, Chen Z, Guo Y, Wu Y, Pan J |
| Cancer genetics and cytogenetics. 2003 ; 140 (2) : 153-156. |
| PMID 12645654 |
| |
| NUP98-topoisomerase I acute myeloid leukemia-associated fusion gene has potent leukemogenic activities independent of an engineered catalytic site mutation. |
| Gurevich RM, Aplan PD, Humphries RK |
| Blood. 2004 ; 104 (4) : 1127-1136. |
| PMID 15100157 |
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| Both NUP98/TOP1 and TOP1/NUP98 transcripts are detected in a de novo AML with t(11;20)(p15;q11). |
| Iwase S, Akiyama N, Sekikawa T, Saito S, Arakawa Y, Horiguchi-Yamada J, Yamada H |
| Genes, chromosomes & cancer. 2003 ; 38 (1) : 102-105. |
| PMID 12874791 |
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| Structure of the human type I DNA topoisomerase gene. |
| Kunze N, Yang GC, Dölberg M, Sundarp R, Knippers R, Richter A |
| The Journal of biological chemistry. 1991 ; 266 (15) : 9610-9616. |
| PMID 1851751 |
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| Expression of NUP98/TOP1, but not of TOP1/NUP98, in a treatment-related myelodysplastic syndrome with t(10;20;11)(q24;q11;p15). |
| Panagopoulos I, Fioretos T, Isaksson M, Larsson G, Billström R, Mitelman F, Johansson B |
| Genes, chromosomes & cancer. 2002 ; 34 (2) : 249-254. |
| PMID 11979559 |
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| A t(11;20)(p15;q11) may identify a subset of nontherapy-related acute myelocytic leukemia. |
| Potenza L, Sinigaglia B, Luppi M, Morselli M, Saviola A, Ferrari A, Riva G, Zucchini P, Giacobbi F, Emilia G, Temperani P, Torelli G |
| Cancer genetics and cytogenetics. 2004 ; 149 (2) : 164-168. |
| PMID 15036893 |
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| Point mutations in the topoisomerase I gene in patients with non-small cell lung cancer treated with irinotecan. |
| Tsurutani J, Nitta T, Hirashima T, Komiya T, Uejima H, Tada H, Syunichi N, Tohda A, Fukuoka M, Nakagawa K |
| Lung cancer (Amsterdam, Netherlands). 2002 ; 35 (3) : 299-304. |
| PMID 11844605 |
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| Nomenclature |
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| HGNC (Hugo) | TOP1 11986 |
| Cards |
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| Atlas | TOP1ID320ch20q11 |
| Entrez_Gene (NCBI) | TOP1 DNA topoisomerase I |
| Aliases | TOPI |
| GeneCards (Weizmann) | TOP1 |
| Ensembl hg19 (Hinxton) | ENSG00000198900 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000198900 [Gene_View] ENSG00000198900 [Sequence] chr20:41028822-41124486 [Contig_View] TOP1 [Vega] |
| ICGC DataPortal | ENSG00000198900 |
| TCGA cBioPortal | TOP1 |
| AceView (NCBI) | TOP1 |
| Genatlas (Paris) | TOP1 |
| SOURCE (Princeton) | TOP1 |
| Genetics Home Reference (NIH) | TOP1 |
| Genomic and cartography |
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| GoldenPath hg38 (UCSC) | TOP1 - chr20:41028822-41124486 + 20q12 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | TOP1 - 20q12 [Description] (hg19-Feb_2009) |
| GoldenPath | TOP1 - 20q12 [CytoView hg19] TOP1 - 20q12 [CytoView hg38] |
| ImmunoBase | ENSG00000198900 |
| Genome Data Viewer NCBI | TOP1 [Mapview hg19] |
| OMIM | 126420 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AK225095 AK292943 AK310508 AK310516 BC000943 |
| RefSeq transcript (Entrez) | NM_003286 |
| Consensus coding sequences : CCDS (NCBI) | TOP1 |
| Gene Expression | TOP1 [ NCBI-GEO ] TOP1 [ EBI - ARRAY_EXPRESS ]
TOP1 [ SEEK ] TOP1 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | TOP1 [ Firebrowse - Broad ] |
| Genevisible | Expression of TOP1 in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 7150 |
| GTEX Portal (Tissue expression) | TOP1 |
| Human Protein Atlas | ENSG00000198900-TOP1 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P11387 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P11387 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P11387 |
| PhosPhoSitePlus | P11387 |
| Domaine pattern : Prosite (Expaxy) | TOPOISOMERASE_I_EUK (PS00176) |
| Domains : Interpro (EBI) | DNA_brk_join_enz DNA_topo_DNA_db_N_dom1 DNA_topo_DNA_db_N_dom2 TopoI TopoI_AS TopoI_C_dom TopoI_cat_a-hlx-sub_euk TopoI_cat_a/b-sub_euk TopoI_cat_euk TopoI_DNA-bd_euk TopoI_DNA-bd_euk_N_sf TopoI_euk |
| Domain families : Pfam (Sanger) | Topo_C_assoc (PF14370) Topoisom_I (PF01028) Topoisom_I_N (PF02919) |
| Domain families : Pfam (NCBI) | pfam14370 pfam01028 pfam02919 |
| Domain families : Smart (EMBL) | TOPEUc (SM00435) |
| Conserved Domain (NCBI) | TOP1 |
| PDB (RSDB) | 1A31 1A35 1A36 1EJ9 1K4S 1K4T 1LPQ 1NH3 1R49 1RR8 1RRJ 1SC7 1SEU 1T8I 1TL8 |
| PDB Europe | 1A31 1A35 1A36 1EJ9 1K4S 1K4T 1LPQ 1NH3 1R49 1RR8 1RRJ 1SC7 1SEU 1T8I 1TL8 |
| PDB (PDBSum) | 1A31 1A35 1A36 1EJ9 1K4S 1K4T 1LPQ 1NH3 1R49 1RR8 1RRJ 1SC7 1SEU 1T8I 1TL8 |
| PDB (IMB) | 1A31 1A35 1A36 1EJ9 1K4S 1K4T 1LPQ 1NH3 1R49 1RR8 1RRJ 1SC7 1SEU 1T8I 1TL8 |
| Structural Biology KnowledgeBase | 1A31 1A35 1A36 1EJ9 1K4S 1K4T 1LPQ 1NH3 1R49 1RR8 1RRJ 1SC7 1SEU 1T8I 1TL8 |
| SCOP (Structural Classification of Proteins) | 1A31 1A35 1A36 1EJ9 1K4S 1K4T 1LPQ 1NH3 1R49 1RR8 1RRJ 1SC7 1SEU 1T8I 1TL8 |
| CATH (Classification of proteins structures) | 1A31 1A35 1A36 1EJ9 1K4S 1K4T 1LPQ 1NH3 1R49 1RR8 1RRJ 1SC7 1SEU 1T8I 1TL8 |
| Superfamily | P11387 |
| AlphaFold pdb e-kb | P11387 |
| Human Protein Atlas [tissue] | ENSG00000198900-TOP1 [tissue] |
| HPRD | 00535 |
| Protein Interaction databases |
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| DIP (DOE-UCLA) | P11387 |
| IntAct (EBI) | P11387 |
| BioGRID | TOP1 |
| STRING (EMBL) | TOP1 |
| ZODIAC | TOP1 |
| Ontologies - Pathways |
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| QuickGO | P11387 |
| Ontology : AmiGO | nuclear chromosome P-body RNA polymerase II cis-regulatory region sequence-specific DNA binding fibrillar center DNA binding DNA binding chromatin binding double-stranded DNA binding single-stranded DNA binding RNA binding DNA topoisomerase type I (single strand cut, ATP-independent) activity DNA topoisomerase type I (single strand cut, ATP-independent) activity DNA topoisomerase type I (single strand cut, ATP-independent) activity protein serine/threonine kinase activity protein binding ATP binding nucleus nucleus nucleoplasm nucleoplasm nucleoplasm nucleolus nucleolus nucleolus DNA replication DNA topological change DNA topological change DNA topological change chromatin remodeling chromatin remodeling chromosome segregation circadian rhythm programmed cell death phosphorylation peptidyl-serine phosphorylation protein domain specific binding circadian regulation of gene expression protein-DNA complex embryonic cleavage response to drug perikaryon supercoiled DNA binding |
| Ontology : EGO-EBI | nuclear chromosome P-body RNA polymerase II cis-regulatory region sequence-specific DNA binding fibrillar center DNA binding DNA binding chromatin binding double-stranded DNA binding single-stranded DNA binding RNA binding DNA topoisomerase type I (single strand cut, ATP-independent) activity DNA topoisomerase type I (single strand cut, ATP-independent) activity DNA topoisomerase type I (single strand cut, ATP-independent) activity protein serine/threonine kinase activity protein binding ATP binding nucleus nucleus nucleoplasm nucleoplasm nucleoplasm nucleolus nucleolus nucleolus DNA replication DNA topological change DNA topological change DNA topological change chromatin remodeling chromatin remodeling chromosome segregation circadian rhythm programmed cell death phosphorylation peptidyl-serine phosphorylation protein domain specific binding circadian regulation of gene expression protein-DNA complex embryonic cleavage response to drug perikaryon supercoiled DNA binding |
| REACTOME | P11387 [protein] |
| REACTOME Pathways | R-HSA-4615885 [pathway] |
| NDEx Network | TOP1 |
| Atlas of Cancer Signalling Network | TOP1 |
| Wikipedia pathways | TOP1 |
| Orthology - Evolution |
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| OrthoDB | 7150 |
| GeneTree (enSembl) | ENSG00000198900 |
| Phylogenetic Trees/Animal Genes : TreeFam | TOP1 |
| Homologs : HomoloGene | TOP1 |
| Homology/Alignments : Family Browser (UCSC) | TOP1 |
| Gene fusions - Rearrangements |
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| Fusion : Mitelman | NUP98::TOP1 [11p15.4/20q12] |
| Fusion : Mitelman | TOP1::C17orf64 [20q12/17q23.2] |
| Fusion : Mitelman | TOP1::CDH4 [20q12/20q13.33] |
| Fusion : Mitelman | TOP1::PZP [20q12/12p13.31] |
| Fusion : FusionGDB | 5.99.1.2 |
| Fusion : Quiver | TOP1 |
| Polymorphisms : SNP and Copy number variants |
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| NCBI Variation Viewer | TOP1 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | TOP1 |
| dbVar | TOP1 |
| ClinVar | TOP1 |
| Monarch | TOP1 |
| 1000_Genomes | TOP1 |
| Exome Variant Server | TOP1 |
| GNOMAD Browser | ENSG00000198900 |
| Varsome Browser | TOP1 |
| ACMG | TOP1 variants |
| Varity | P11387 |
| Genomic Variants (DGV) | TOP1 [DGVbeta] |
| DECIPHER | TOP1 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | TOP1 |
| Mutations |
|---|
| ICGC Data Portal | TOP1 |
| TCGA Data Portal | TOP1 |
| Broad Tumor Portal | TOP1 |
| OASIS Portal | TOP1 [ Somatic mutations - Copy number] |
| Cancer Gene: Census | TOP1 |
| Somatic Mutations in Cancer : COSMIC | TOP1 [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | TOP1 |
| Mutations and Diseases : HGMD | TOP1 |
| LOVD (Leiden Open Variation Database) | [gene] [transcripts] [variants] |
| BioMuta | TOP1 |
| DgiDB (Drug Gene Interaction Database) | TOP1 |
| DoCM (Curated mutations) | TOP1 |
| CIViC (Clinical Interpretations of Variants in Cancer) | TOP1 |
| OncoKB | TOP1 |
| NCG (London) | TOP1 |
| Cancer3D | TOP1 |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
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| OMIM | 126420 |
| Orphanet | |
| DisGeNET | TOP1 |
| Medgen | TOP1 |
| Genetic Testing Registry | TOP1
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| NextProt | P11387 [Medical] |
| GENETests | TOP1 |
| Target Validation | TOP1 |
| Huge Navigator |
TOP1 [HugePedia] |
| ClinGen | TOP1 |
| Clinical trials, drugs, therapy |
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| MyCancerGenome | TOP1 |
| Protein Interactions : CTD | TOP1 |
| Pharm GKB Gene | PA353 |
| Pharm GKB Pathways | PA2029 |
| Pharos | P11387 |
| Clinical trial | TOP1 |
| Miscellaneous |
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| canSAR (ICR) | TOP1 |
| Harmonizome | TOP1 |
| DataMed Index | TOP1 |
| Probes |
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| Litterature |
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| PubMed | 392 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| EVEX | TOP1 |
