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Q969P6

- TOP1M_HUMAN

UniProt

Q969P6 - TOP1M_HUMAN

Protein

DNA topoisomerase I, mitochondrial

Gene

TOP1MT

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    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 undergoes passage around the unbroken 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 similarity

    Catalytic activityi

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

    Cofactori

    Divalent metal ions (calcium or magnesium).1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei152 – 1521Interaction with DNABy similarity
    Sitei200 – 2001Interaction with DNABy similarity
    Sitei248 – 2481Interaction with DNABy similarity
    Sitei279 – 2791Interaction with DNABy similarity
    Sitei337 – 3371Interaction with DNABy similarity
    Sitei368 – 3681Interaction with DNABy similarity
    Sitei410 – 4101Interaction with DNABy similarity
    Sitei468 – 4681Interaction with DNABy similarity
    Sitei486 – 4861Interaction with DNABy similarity
    Active sitei559 – 5591O-(3'-phospho-DNA)-tyrosine intermediatePROSITE-ProRule annotation

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. DNA topoisomerase type I activity Source: RefGenome
    3. DNA topoisomerase type II (ATP-hydrolyzing) activity Source: InterPro

    GO - Biological processi

    1. DNA replication Source: RefGenome
    2. DNA topological change Source: RefGenome

    Keywords - Molecular functioni

    Isomerase, Topoisomerase

    Keywords - Ligandi

    DNA-binding

    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
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:29787. TOP1MT.

    Subcellular locationi

    Mitochondrion 1 Publication

    GO - Cellular componenti

    1. chromosome Source: InterPro
    2. mitochondrial nucleoid Source: BHF-UCL
    3. mitochondrion Source: HPA
    4. nucleus Source: HPA

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134922772.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 5050Mitochondrion1 PublicationAdd
    BLAST
    Chaini51 – 601551DNA topoisomerase I, mitochondrialPRO_0000034797Add
    BLAST

    Proteomic databases

    MaxQBiQ969P6.
    PaxDbiQ969P6.
    PRIDEiQ969P6.

    PTM databases

    PhosphoSiteiQ969P6.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiQ969P6.
    BgeeiQ969P6.
    CleanExiHS_TOP1MT.
    GenevestigatoriQ969P6.

    Organism-specific databases

    HPAiHPA001915.
    HPA021542.

    Interactioni

    Protein-protein interaction databases

    BioGridi125510. 4 interactions.
    STRINGi9606.ENSP00000328835.

    Structurei

    3D structure databases

    ProteinModelPortaliQ969P6.
    SMRiQ969P6. Positions 42-601.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni261 – 2622Interaction with DNABy similarity
    Regioni324 – 3296Interaction with DNABy similarity
    Regioni421 – 4233Interaction with DNABy similarity

    Sequence similaritiesi

    Belongs to the type IB topoisomerase family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG3569.
    HOGENOMiHOG000105469.
    HOVERGENiHBG007988.
    InParanoidiQ969P6.
    KOiK03163.
    OMAiVINCSRD.
    OrthoDBiEOG7CVPX5.
    PhylomeDBiQ969P6.
    TreeFamiTF105281.

    Family and domain databases

    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. Align

    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

    MRVVRLLRLR AALTLLGEVP RRPASRGVPG SRRTQKGSGA RWEKEKHEDG    50
    VKWRQLEHKG PYFAPPYEPL PDGVRFFYEG RPVRLSVAAE EVATFYGRML 100
    DHEYTTKEVF RKNFFNDWRK EMAVEEREVI KSLDKCDFTE IHRYFVDKAA 150
    ARKVLSREEK QKLKEEAEKL QQEFGYCILD GHQEKIGNFK IEPPGLFRGR 200
    GDHPKMGMLK RRITPEDVVI NCSRDSKIPE PPAGHQWKEV RSDNTVTWLA 250
    AWTESVQNSI KYIMLNPCSK LKGETAWQKF ETARRLRGFV DEIRSQYRAD 300
    WKSREMKTRQ RAVALYFIDK LALRAGNEKE DGEAADTVGC CSLRVEHVQL 350
    HPEADGCQHV VEFDFLGKDC IRYYNRVPVE KPVYKNLQLF MENKDPRDDL 400
    FDRLTTTSLN KHLQELMDGL TAKVFRTYNA SITLQEQLRA LTRAEDSIAA 450
    KILSYNRANR VVAILCNHQR ATPSTFEKSM QNLQTKIQAK KEQVAEARAE 500
    LRRARAEHKA QGDGKSRSVL EKKRRLLEKL QEQLAQLSVQ ATDKEENKQV 550
    ALGTSKLNYL DPRISIAWCK RFRVPVEKIY SKTQRERFAW ALAMAGEDFE 600
    F 601
    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 AAH44646.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti116 – 1161N → S in BAH14751. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti256 – 2561V → I.1 Publication
    Corresponds to variant rs11544484 [ dbSNP | Ensembl ].
    VAR_052593
    Natural varianti525 – 5251R → W.1 Publication
    Corresponds to variant rs2293925 [ dbSNP | Ensembl ].
    VAR_021863

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9898Missing in isoform 2. 1 PublicationVSP_044783Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.

    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.4. human. [Q969P6-1]

    Polymorphism databases

    DMDMi20140694.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 ]
    UniGenei Hs.528574.

    3D structure databases

    ProteinModelPortali Q969P6.
    SMRi Q969P6. Positions 42-601.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125510. 4 interactions.
    STRINGi 9606.ENSP00000328835.

    Chemistry

    ChEMBLi CHEMBL2362989.
    DrugBanki DB00762. Irinotecan.
    DB01030. Topotecan.

    PTM databases

    PhosphoSitei Q969P6.

    Polymorphism databases

    DMDMi 20140694.

    Proteomic databases

    MaxQBi Q969P6.
    PaxDbi Q969P6.
    PRIDEi Q969P6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000329245 ; ENSP00000328835 ; ENSG00000184428 . [Q969P6-1 ]
    ENST00000519148 ; ENSP00000429169 ; ENSG00000184428 . [Q969P6-2 ]
    ENST00000521193 ; ENSP00000428369 ; ENSG00000184428 . [Q969P6-2 ]
    ENST00000523676 ; ENSP00000429181 ; ENSG00000184428 . [Q969P6-2 ]
    GeneIDi 116447.
    KEGGi hsa:116447.
    UCSCi uc003yxz.4. human. [Q969P6-1 ]

    Organism-specific databases

    CTDi 116447.
    GeneCardsi GC08M144391.
    HGNCi HGNC:29787. TOP1MT.
    HPAi HPA001915.
    HPA021542.
    MIMi 606387. gene.
    neXtProti NX_Q969P6.
    PharmGKBi PA134922772.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG3569.
    HOGENOMi HOG000105469.
    HOVERGENi HBG007988.
    InParanoidi Q969P6.
    KOi K03163.
    OMAi VINCSRD.
    OrthoDBi EOG7CVPX5.
    PhylomeDBi Q969P6.
    TreeFami TF105281.

    Miscellaneous databases

    GenomeRNAii 116447.
    NextBioi 79927.
    PROi Q969P6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q969P6.
    Bgeei Q969P6.
    CleanExi HS_TOP1MT.
    Genevestigatori Q969P6.

    Family and domain databases

    Gene3Di 1.10.10.41. 1 hit.
    1.10.132.10. 1 hit.
    2.170.11.10. 2 hits.
    3.90.15.10. 1 hit.
    InterProi IPR011010. 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 ]
    Pfami PF14370. Topo_C_assoc. 1 hit.
    PF01028. Topoisom_I. 1 hit.
    PF02919. Topoisom_I_N. 1 hit.
    [Graphical view ]
    PRINTSi PR00416. EUTPISMRASEI.
    SMARTi SM00435. TOPEUc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56349. SSF56349. 2 hits.
    SSF56741. SSF56741. 1 hit.
    PROSITEi PS00176. TOPOISOMERASE_I_EUK. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), FUNCTION, COFACTOR, SUBCELLULAR LOCATION, TRANSIT PEPTIDE CLEAVAGE SITE, TISSUE SPECIFICITY.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT TRP-525.
      Tissue: Testis.
    3. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-256.
      Tissue: Brain and Lung.

    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: October 1, 2014
    This is version 126 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

    External Data

    Dasty 3