UniProtKB - Q969P6 (TOP1M_HUMAN)
DNA topoisomerase I, mitochondrial
TOP1MT
Functioni
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 (By similarity).
By similarity1 PublicationCatalytic activityi
- ATP-independent breakage of single-stranded DNA, followed by passage and rejoining.PROSITE-ProRule annotation EC:5.6.2.1
Cofactori
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 559 | O-(3'-phospho-DNA)-tyrosine intermediatePROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- DNA binding Source: UniProtKB-KW
- DNA topoisomerase type I (single strand cut, ATP-independent) activity Source: GO_Central
GO - Biological processi
- DNA replication Source: GO_Central
- DNA topological change Source: GO_Central
Keywordsi
Molecular function | DNA-binding, Isomerase, Topoisomerase |
Enzyme and pathway databases
BRENDAi | 5.6.2.1, 2681 |
PathwayCommonsi | Q969P6 |
SignaLinki | Q969P6 |
SIGNORi | Q969P6 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA topoisomerase I, mitochondrial (EC:5.6.2.1PROSITE-ProRule annotation)Short name: TOP1mt |
Gene namesi | Name:TOP1MT |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29787, TOP1MT |
MIMi | 606387, gene |
neXtProti | NX_Q969P6 |
VEuPathDBi | HostDB:ENSG00000184428 |
Subcellular locationi
Mitochondrion
- Mitochondrion 1 Publication
Mitochondrion
- mitochondrial nucleoid Source: BHF-UCL
- mitochondrion Source: HPA
Nucleus
- nucleoplasm Source: HPA
Other locations
- chromosome Source: InterPro
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Organism-specific databases
DisGeNETi | 116447 |
OpenTargetsi | ENSG00000184428 |
PharmGKBi | PA134922772 |
Miscellaneous databases
Pharosi | Q969P6, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2362989 |
DrugBanki | DB00762, Irinotecan DB01030, Topotecan |
DrugCentrali | Q969P6 |
Genetic variation databases
BioMutai | TOP1MT |
DMDMi | 20140694 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 50 | Mitochondrion1 PublicationAdd BLAST | 50 | |
ChainiPRO_0000034797 | 51 – 601 | DNA topoisomerase I, mitochondrialAdd BLAST | 551 |
Proteomic databases
EPDi | Q969P6 |
jPOSTi | Q969P6 |
MassIVEi | Q969P6 |
MaxQBi | Q969P6 |
PaxDbi | Q969P6 |
PeptideAtlasi | Q969P6 |
PRIDEi | Q969P6 |
ProteomicsDBi | 17936 75812 [Q969P6-1] |
PTM databases
iPTMneti | Q969P6 |
PhosphoSitePlusi | Q969P6 |
SwissPalmi | Q969P6 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000184428, Expressed in testis and 173 other tissues |
ExpressionAtlasi | Q969P6, baseline and differential |
Genevisiblei | Q969P6, HS |
Organism-specific databases
HPAi | ENSG00000184428, Low tissue specificity |
Interactioni
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 152 | Interaction with DNABy similarity | 1 | |
Sitei | 200 | Interaction with DNABy similarity | 1 | |
Sitei | 248 | Interaction with DNABy similarity | 1 | |
Sitei | 279 | Interaction with DNABy similarity | 1 | |
Sitei | 337 | Interaction with DNABy similarity | 1 | |
Sitei | 368 | Interaction with DNABy similarity | 1 | |
Sitei | 410 | Interaction with DNABy similarity | 1 | |
Sitei | 468 | Interaction with DNABy similarity | 1 | |
Sitei | 486 | Interaction with DNABy similarity | 1 |
Protein-protein interaction databases
BioGRIDi | 125510, 24 interactors |
IntActi | Q969P6, 11 interactors |
STRINGi | 9606.ENSP00000328835 |
Miscellaneous databases
RNActi | Q969P6, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 22 – 48 | DisorderedSequence analysisAdd BLAST | 27 | |
Regioni | 261 – 262 | Interaction with DNABy similarity | 2 | |
Regioni | 324 – 329 | Interaction with DNABy similarity | 6 | |
Regioni | 421 – 423 | Interaction with DNABy similarity | 3 |
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG0981, Eukaryota |
GeneTreei | ENSGT00940000162943 |
HOGENOMi | CLU_009193_2_0_1 |
InParanoidi | Q969P6 |
OMAi | RYNAANR |
OrthoDBi | 303947at2759 |
PhylomeDBi | Q969P6 |
TreeFami | TF105281 |
Family and domain databases
CDDi | cd00659, Topo_IB_C, 1 hit |
Gene3Di | 1.10.10.41, 1 hit 1.10.132.10, 1 hit 2.170.11.10, 1 hit 3.90.15.10, 1 hit |
InterProi | View protein in InterPro IPR011010, DNA_brk_join_enz IPR013034, DNA_topo_DNA_db_N_dom1 IPR013030, DNA_topo_DNA_db_N_dom2 IPR001631, TopoI IPR018521, TopoI_AS IPR025834, TopoI_C_dom IPR014711, TopoI_cat_a-hlx-sub_euk IPR014727, TopoI_cat_a/b-sub_euk IPR013500, TopoI_cat_euk IPR008336, TopoI_DNA-bd_euk IPR036202, TopoI_DNA-bd_euk_N_sf IPR013499, TopoI_euk |
Pfami | View protein in Pfam PF14370, Topo_C_assoc, 1 hit PF01028, Topoisom_I, 1 hit PF02919, Topoisom_I_N, 1 hit |
PRINTSi | PR00416, EUTPISMRASEI |
SMARTi | View protein in SMART SM00435, TOPEUc, 1 hit |
SUPFAMi | SSF56349, SSF56349, 1 hit SSF56741, SSF56741, 1 hit |
PROSITEi | View protein in PROSITE PS00176, TOPOISOMERASE_I_EUK, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MRVVRLLRLR AALTLLGEVP RRPASRGVPG SRRTQKGSGA RWEKEKHEDG
60 70 80 90 100
VKWRQLEHKG PYFAPPYEPL PDGVRFFYEG RPVRLSVAAE EVATFYGRML
110 120 130 140 150
DHEYTTKEVF RKNFFNDWRK EMAVEEREVI KSLDKCDFTE IHRYFVDKAA
160 170 180 190 200
ARKVLSREEK QKLKEEAEKL QQEFGYCILD GHQEKIGNFK IEPPGLFRGR
210 220 230 240 250
GDHPKMGMLK RRITPEDVVI NCSRDSKIPE PPAGHQWKEV RSDNTVTWLA
260 270 280 290 300
AWTESVQNSI KYIMLNPCSK LKGETAWQKF ETARRLRGFV DEIRSQYRAD
310 320 330 340 350
WKSREMKTRQ RAVALYFIDK LALRAGNEKE DGEAADTVGC CSLRVEHVQL
360 370 380 390 400
HPEADGCQHV VEFDFLGKDC IRYYNRVPVE KPVYKNLQLF MENKDPRDDL
410 420 430 440 450
FDRLTTTSLN KHLQELMDGL TAKVFRTYNA SITLQEQLRA LTRAEDSIAA
460 470 480 490 500
KILSYNRANR VVAILCNHQR ATPSTFEKSM QNLQTKIQAK KEQVAEARAE
510 520 530 540 550
LRRARAEHKA QGDGKSRSVL EKKRRLLEKL QEQLAQLSVQ ATDKEENKQV
560 570 580 590 600
ALGTSKLNYL DPRISIAWCK RFRVPVEKIY SKTQRERFAW ALAMAGEDFE
F
Computationally mapped potential isoform sequencesi
There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE5RIC7 | E5RIC7_HUMAN | DNA topoisomerase I | TOP1MT | 376 | Annotation score: | ||
E5RFS0 | E5RFS0_HUMAN | DNA topoisomerase I, mitochondrial | TOP1MT | 221 | Annotation score: | ||
E5RJ95 | E5RJ95_HUMAN | DNA topoisomerase I, mitochondrial | TOP1MT | 201 | Annotation score: | ||
H0YAR3 | H0YAR3_HUMAN | DNA topoisomerase I, mitochondrial | TOP1MT | 111 | Annotation score: | ||
E5RFE3 | E5RFE3_HUMAN | DNA topoisomerase I, mitochondrial | TOP1MT | 164 | Annotation score: | ||
E5RGR4 | E5RGR4_HUMAN | DNA topoisomerase I, mitochondrial | TOP1MT | 164 | Annotation score: | ||
E5RGR2 | E5RGR2_HUMAN | DNA topoisomerase I, mitochondrial | TOP1MT | 167 | Annotation score: | ||
H0YC03 | H0YC03_HUMAN | DNA topoisomerase I, mitochondrial | TOP1MT | 123 | Annotation score: | ||
E5RJ33 | E5RJ33_HUMAN | DNA topoisomerase I, mitochondrial | TOP1MT | 33 | Annotation score: | ||
E5RGE7 | E5RGE7_HUMAN | DNA topoisomerase I, mitochondrial | TOP1MT | 134 | Annotation score: | ||
There is more potential isoformShow all |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 116 | N → S in BAH14751 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052593 | 256 | V → I1 PublicationCorresponds to variant dbSNP:rs11544484Ensembl. | 1 | |
Natural variantiVAR_021863 | 525 | R → W1 PublicationCorresponds to variant dbSNP:rs2293925Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044783 | 1 – 98 | Missing in isoform 2. 1 PublicationAdd BLAST | 98 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF349031 , AF349018, AF349019, AF349020, AF349021, AF349022, AF349023, AF349024, AF349025, AF349026, AF349027, AF349028, AF349029, AF349030 Genomic DNA Translation: AAL10791.1 AF349017 mRNA Translation: AAL05624.1 AK316380 mRNA Translation: BAH14751.1 AC087793 Genomic DNA No translation available. BC044646 mRNA Translation: AAH44646.1 Different initiation. BC052285 mRNA Translation: AAH52285.1 BC071914 mRNA Translation: AAH71914.1 |
CCDSi | CCDS59115.1 [Q969P6-2] CCDS6400.1 [Q969P6-1] |
RefSeqi | NP_001245375.1, NM_001258446.1 [Q969P6-2] NP_001245376.1, NM_001258447.1 [Q969P6-2] NP_443195.1, NM_052963.2 [Q969P6-1] |
Genome annotation databases
Ensembli | ENST00000329245; ENSP00000328835; ENSG00000184428 ENST00000519148; ENSP00000429169; ENSG00000184428 [Q969P6-2] ENST00000521193; ENSP00000428369; ENSG00000184428 [Q969P6-2] ENST00000523676; ENSP00000429181; ENSG00000184428 [Q969P6-2] |
GeneIDi | 116447 |
KEGGi | hsa:116447 |
MANE-Selecti | ENST00000329245.9; ENSP00000328835.3; NM_052963.3; NP_443195.1 |
UCSCi | uc003yxz.6, human [Q969P6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF349031 , AF349018, AF349019, AF349020, AF349021, AF349022, AF349023, AF349024, AF349025, AF349026, AF349027, AF349028, AF349029, AF349030 Genomic DNA Translation: AAL10791.1 AF349017 mRNA Translation: AAL05624.1 AK316380 mRNA Translation: BAH14751.1 AC087793 Genomic DNA No translation available. BC044646 mRNA Translation: AAH44646.1 Different initiation. BC052285 mRNA Translation: AAH52285.1 BC071914 mRNA Translation: AAH71914.1 |
CCDSi | CCDS59115.1 [Q969P6-2] CCDS6400.1 [Q969P6-1] |
RefSeqi | NP_001245375.1, NM_001258446.1 [Q969P6-2] NP_001245376.1, NM_001258447.1 [Q969P6-2] NP_443195.1, NM_052963.2 [Q969P6-1] |
3D structure databases
SMRi | Q969P6 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 125510, 24 interactors |
IntActi | Q969P6, 11 interactors |
STRINGi | 9606.ENSP00000328835 |
Chemistry databases
ChEMBLi | CHEMBL2362989 |
DrugBanki | DB00762, Irinotecan DB01030, Topotecan |
DrugCentrali | Q969P6 |
PTM databases
iPTMneti | Q969P6 |
PhosphoSitePlusi | Q969P6 |
SwissPalmi | Q969P6 |
Genetic variation databases
BioMutai | TOP1MT |
DMDMi | 20140694 |
Proteomic databases
EPDi | Q969P6 |
jPOSTi | Q969P6 |
MassIVEi | Q969P6 |
MaxQBi | Q969P6 |
PaxDbi | Q969P6 |
PeptideAtlasi | Q969P6 |
PRIDEi | Q969P6 |
ProteomicsDBi | 17936 75812 [Q969P6-1] |
Protocols and materials databases
Antibodypediai | 958, 248 antibodies from 27 providers |
CPTCi | Q969P6, 3 antibodies |
DNASUi | 116447 |
Genome annotation databases
Ensembli | ENST00000329245; ENSP00000328835; ENSG00000184428 ENST00000519148; ENSP00000429169; ENSG00000184428 [Q969P6-2] ENST00000521193; ENSP00000428369; ENSG00000184428 [Q969P6-2] ENST00000523676; ENSP00000429181; ENSG00000184428 [Q969P6-2] |
GeneIDi | 116447 |
KEGGi | hsa:116447 |
MANE-Selecti | ENST00000329245.9; ENSP00000328835.3; NM_052963.3; NP_443195.1 |
UCSCi | uc003yxz.6, human [Q969P6-1] |
Organism-specific databases
CTDi | 116447 |
DisGeNETi | 116447 |
GeneCardsi | TOP1MT |
HGNCi | HGNC:29787, TOP1MT |
HPAi | ENSG00000184428, Low tissue specificity |
MIMi | 606387, gene |
neXtProti | NX_Q969P6 |
OpenTargetsi | ENSG00000184428 |
PharmGKBi | PA134922772 |
VEuPathDBi | HostDB:ENSG00000184428 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0981, Eukaryota |
GeneTreei | ENSGT00940000162943 |
HOGENOMi | CLU_009193_2_0_1 |
InParanoidi | Q969P6 |
OMAi | RYNAANR |
OrthoDBi | 303947at2759 |
PhylomeDBi | Q969P6 |
TreeFami | TF105281 |
Enzyme and pathway databases
BRENDAi | 5.6.2.1, 2681 |
PathwayCommonsi | Q969P6 |
SignaLinki | Q969P6 |
SIGNORi | Q969P6 |
Miscellaneous databases
BioGRID-ORCSi | 116447, 58 hits in 1046 CRISPR screens |
ChiTaRSi | TOP1MT, human |
GenomeRNAii | 116447 |
Pharosi | Q969P6, Tclin |
PROi | PR:Q969P6 |
RNActi | Q969P6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000184428, Expressed in testis and 173 other tissues |
ExpressionAtlasi | Q969P6, baseline and differential |
Genevisiblei | Q969P6, HS |
Family and domain databases
CDDi | cd00659, Topo_IB_C, 1 hit |
Gene3Di | 1.10.10.41, 1 hit 1.10.132.10, 1 hit 2.170.11.10, 1 hit 3.90.15.10, 1 hit |
InterProi | View protein in InterPro IPR011010, DNA_brk_join_enz IPR013034, DNA_topo_DNA_db_N_dom1 IPR013030, DNA_topo_DNA_db_N_dom2 IPR001631, TopoI IPR018521, TopoI_AS IPR025834, TopoI_C_dom IPR014711, TopoI_cat_a-hlx-sub_euk IPR014727, TopoI_cat_a/b-sub_euk IPR013500, TopoI_cat_euk IPR008336, TopoI_DNA-bd_euk IPR036202, TopoI_DNA-bd_euk_N_sf IPR013499, TopoI_euk |
Pfami | View protein in Pfam PF14370, Topo_C_assoc, 1 hit PF01028, Topoisom_I, 1 hit PF02919, Topoisom_I_N, 1 hit |
PRINTSi | PR00416, EUTPISMRASEI |
SMARTi | View protein in SMART SM00435, TOPEUc, 1 hit |
SUPFAMi | SSF56349, SSF56349, 1 hit SSF56741, SSF56741, 1 hit |
PROSITEi | View protein in PROSITE PS00176, TOPOISOMERASE_I_EUK, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TOP1M_HUMAN | |
Accessioni | Q969P6Primary (citable) accession number: Q969P6 Secondary accession number(s): B7ZAR5 Q86V82 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 31, 2002 |
Last sequence update: | December 1, 2001 | |
Last modified: | February 23, 2022 | |
This is version 180 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families