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Protein

DNA topoisomerase I, mitochondrial

Gene

TOP1MT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 Publication

Catalytic activityi

ATP-independent breakage of single-stranded DNA, followed by passage and rejoining.PROSITE-ProRule annotation

Cofactori

Ca2+1 Publication, Mg2+1 PublicationNote: Divalent metal ions (calcium or magnesium).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei559O-(3'-phospho-DNA)-tyrosine intermediatePROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Isomerase, Topoisomerase

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:HS11917-MONOMER.
BRENDAi5.99.1.2. 2681.

Names & Taxonomyi

Protein namesi
Recommended name:
DNA topoisomerase I, mitochondrial (EC:5.99.1.2)
Short name:
TOP1mt
Gene namesi
Name:TOP1MT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:29787. TOP1MT.

Subcellular locationi

GO - Cellular componenti

  • chromosome Source: InterPro
  • mitochondrial nucleoid Source: BHF-UCL
  • mitochondrion Source: HPA
  • nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi116447.
OpenTargetsiENSG00000184428.
PharmGKBiPA134922772.

Chemistry databases

ChEMBLiCHEMBL2362989.
DrugBankiDB00762. Irinotecan.
DB01030. Topotecan.

Polymorphism and mutation databases

BioMutaiTOP1MT.
DMDMi20140694.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 50Mitochondrion1 PublicationAdd BLAST50
ChainiPRO_000003479751 – 601DNA topoisomerase I, mitochondrialAdd BLAST551

Proteomic databases

EPDiQ969P6.
MaxQBiQ969P6.
PaxDbiQ969P6.
PeptideAtlasiQ969P6.
PRIDEiQ969P6.

PTM databases

iPTMnetiQ969P6.
PhosphoSitePlusiQ969P6.
SwissPalmiQ969P6.

Expressioni

Tissue specificityi

Ubiquitous; highest in skeletal muscle, heart, brain and fetal liver.1 Publication

Gene expression databases

BgeeiENSG00000184428.
CleanExiHS_TOP1MT.
ExpressionAtlasiQ969P6. baseline and differential.
GenevisibleiQ969P6. HS.

Organism-specific databases

HPAiHPA001915.
HPA021542.

Interactioni

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei152Interaction with DNABy similarity1
Sitei200Interaction with DNABy similarity1
Sitei248Interaction with DNABy similarity1
Sitei279Interaction with DNABy similarity1
Sitei337Interaction with DNABy similarity1
Sitei368Interaction with DNABy similarity1
Sitei410Interaction with DNABy similarity1
Sitei468Interaction with DNABy similarity1
Sitei486Interaction with DNABy similarity1

Protein-protein interaction databases

BioGridi125510. 12 interactors.
IntActiQ969P6. 11 interactors.
STRINGi9606.ENSP00000328835.

Structurei

3D structure databases

ProteinModelPortaliQ969P6.
SMRiQ969P6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni261 – 262Interaction with DNABy similarity2
Regioni324 – 329Interaction with DNABy similarity6
Regioni421 – 423Interaction with DNABy similarity3

Sequence similaritiesi

Belongs to the type IB topoisomerase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0981. Eukaryota.
COG3569. LUCA.
GeneTreeiENSGT00390000016347.
HOGENOMiHOG000105469.
HOVERGENiHBG007988.
InParanoidiQ969P6.
KOiK03163.
OMAiVINCSRD.
OrthoDBiEOG091G02KT.
PhylomeDBiQ969P6.
TreeFamiTF105281.

Family and domain databases

CDDicd00659. Topo_IB_C. 1 hit.
Gene3Di1.10.10.41. 1 hit.
1.10.132.10. 1 hit.
2.170.11.10. 2 hits.
3.90.15.10. 1 hit.
InterProiIPR011010. DNA_brk_join_enz.
IPR013034. DNA_topo_domain1.
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.
IPR013030. TopoI_DNA-bd_mixed-a/b_euk.
IPR013499. TopoI_euk.
[Graphical view]
PfamiPF14370. Topo_C_assoc. 1 hit.
PF01028. Topoisom_I. 1 hit.
PF02919. Topoisom_I_N. 1 hit.
[Graphical view]
PRINTSiPR00416. EUTPISMRASEI.
SMARTiSM00435. TOPEUc. 1 hit.
[Graphical view]
SUPFAMiSSF56349. SSF56349. 2 hits.
SSF56741. SSF56741. 1 hit.
PROSITEiPS00176. TOPOISOMERASE_I_EUK. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q969P6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:601
Mass (Da):69,872
Last modified:December 1, 2001 - v1
Checksum:iA012248D4250C675
GO
Isoform 2 (identifier: Q969P6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: Missing.

Note: No experimental confirmation available.
Show »
Length:503
Mass (Da):58,645
Checksum:i7E0138EE2931B903
GO

Sequence cautioni

The sequence AAH44646 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti116N → S in BAH14751 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052593256V → I.1 PublicationCorresponds to variant rs11544484dbSNPEnsembl.1
Natural variantiVAR_021863525R → W.1 PublicationCorresponds to variant rs2293925dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0447831 – 98Missing in isoform 2. 1 PublicationAdd BLAST98

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.
CCDSiCCDS59115.1. [Q969P6-2]
CCDS6400.1. [Q969P6-1]
RefSeqiNP_001245375.1. NM_001258446.1. [Q969P6-2]
NP_001245376.1. NM_001258447.1. [Q969P6-2]
NP_443195.1. NM_052963.2. [Q969P6-1]
UniGeneiHs.528574.
Hs.734085.

Genome annotation databases

EnsembliENST00000329245; ENSP00000328835; ENSG00000184428. [Q969P6-1]
ENST00000519148; ENSP00000429169; ENSG00000184428. [Q969P6-2]
ENST00000521193; ENSP00000428369; ENSG00000184428. [Q969P6-2]
ENST00000523676; ENSP00000429181; ENSG00000184428. [Q969P6-2]
GeneIDi116447.
KEGGihsa:116447.
UCSCiuc003yxz.6. human. [Q969P6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS59115.1. [Q969P6-2]
CCDS6400.1. [Q969P6-1]
RefSeqiNP_001245375.1. NM_001258446.1. [Q969P6-2]
NP_001245376.1. NM_001258447.1. [Q969P6-2]
NP_443195.1. NM_052963.2. [Q969P6-1]
UniGeneiHs.528574.
Hs.734085.

3D structure databases

ProteinModelPortaliQ969P6.
SMRiQ969P6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125510. 12 interactors.
IntActiQ969P6. 11 interactors.
STRINGi9606.ENSP00000328835.

Chemistry databases

ChEMBLiCHEMBL2362989.
DrugBankiDB00762. Irinotecan.
DB01030. Topotecan.

PTM databases

iPTMnetiQ969P6.
PhosphoSitePlusiQ969P6.
SwissPalmiQ969P6.

Polymorphism and mutation databases

BioMutaiTOP1MT.
DMDMi20140694.

Proteomic databases

EPDiQ969P6.
MaxQBiQ969P6.
PaxDbiQ969P6.
PeptideAtlasiQ969P6.
PRIDEiQ969P6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000329245; ENSP00000328835; ENSG00000184428. [Q969P6-1]
ENST00000519148; ENSP00000429169; ENSG00000184428. [Q969P6-2]
ENST00000521193; ENSP00000428369; ENSG00000184428. [Q969P6-2]
ENST00000523676; ENSP00000429181; ENSG00000184428. [Q969P6-2]
GeneIDi116447.
KEGGihsa:116447.
UCSCiuc003yxz.6. human. [Q969P6-1]

Organism-specific databases

CTDi116447.
DisGeNETi116447.
GeneCardsiTOP1MT.
HGNCiHGNC:29787. TOP1MT.
HPAiHPA001915.
HPA021542.
MIMi606387. gene.
neXtProtiNX_Q969P6.
OpenTargetsiENSG00000184428.
PharmGKBiPA134922772.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0981. Eukaryota.
COG3569. LUCA.
GeneTreeiENSGT00390000016347.
HOGENOMiHOG000105469.
HOVERGENiHBG007988.
InParanoidiQ969P6.
KOiK03163.
OMAiVINCSRD.
OrthoDBiEOG091G02KT.
PhylomeDBiQ969P6.
TreeFamiTF105281.

Enzyme and pathway databases

BioCyciZFISH:HS11917-MONOMER.
BRENDAi5.99.1.2. 2681.

Miscellaneous databases

ChiTaRSiTOP1MT. human.
GenomeRNAii116447.
PROiQ969P6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000184428.
CleanExiHS_TOP1MT.
ExpressionAtlasiQ969P6. baseline and differential.
GenevisibleiQ969P6. HS.

Family and domain databases

CDDicd00659. Topo_IB_C. 1 hit.
Gene3Di1.10.10.41. 1 hit.
1.10.132.10. 1 hit.
2.170.11.10. 2 hits.
3.90.15.10. 1 hit.
InterProiIPR011010. DNA_brk_join_enz.
IPR013034. DNA_topo_domain1.
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.
IPR013030. TopoI_DNA-bd_mixed-a/b_euk.
IPR013499. TopoI_euk.
[Graphical view]
PfamiPF14370. Topo_C_assoc. 1 hit.
PF01028. Topoisom_I. 1 hit.
PF02919. Topoisom_I_N. 1 hit.
[Graphical view]
PRINTSiPR00416. EUTPISMRASEI.
SMARTiSM00435. TOPEUc. 1 hit.
[Graphical view]
SUPFAMiSSF56349. SSF56349. 2 hits.
SSF56741. SSF56741. 1 hit.
PROSITEiPS00176. TOPOISOMERASE_I_EUK. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTOP1M_HUMAN
AccessioniPrimary (citable) accession number: Q969P6
Secondary accession number(s): B7ZAR5
, E7ES89, Q86ST4, Q86V82
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 147 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.