LOCUS       NM_052963               1942 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens DNA topoisomerase I mitochondrial (TOP1MT), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_052963 XM_940894 XM_944877
VERSION     NM_052963.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1942)
  AUTHORS   Wang,H., Yan,W. and Yu,Z.
  TITLE     Association of TOP1MT with immune infiltration and checkpoint in
            colorectal cance
  JOURNAL   Asian J Surg 47 (2), 1042-1044 (2024)
   PUBMED   37923603
  REMARK    GeneRIF: Association of TOP1MT with immune infiltration and
            checkpoint in colorectal cance.
REFERENCE   2  (bases 1 to 1942)
  AUTHORS   Al Khatib,I., Deng,J., Lei,Y., Torres-Odio,S., Rojas,G.R.,
            Newman,L.E., Chung,B.K., Symes,A., Zhang,H., Huang,S.N.,
            Pommier,Y., Khan,A., Shadel,G.S., West,A.P., Gibson,W.T. and
            Shutt,T.E.
  TITLE     Activation of the cGAS-STING innate immune response in cells with
            deficient mitochondrial topoisomerase TOP1MT
  JOURNAL   Hum Mol Genet 32 (15), 2422-2440 (2023)
   PUBMED   37129502
  REMARK    GeneRIF: Activation of the cGAS-STING innate immune response in
            cells with deficient mitochondrial topoisomerase TOP1MT.
REFERENCE   3  (bases 1 to 1942)
  AUTHORS   Menger,K.E., Chapman,J., Diaz-Maldonado,H., Khazeem,M.M., Deen,D.,
            Erdinc,D., Casement,J.W., Di Leo,V., Pyle,A., Rodriguez-Luis,A.,
            Cowell,I.G., Falkenberg,M., Austin,C.A. and Nicholls,T.J.
  TITLE     Two type I topoisomerases maintain DNA topology in human
            mitochondria
  JOURNAL   Nucleic Acids Res 50 (19), 11154-11174 (2022)
   PUBMED   36215039
  REMARK    GeneRIF: Two type I topoisomerases maintain DNA topology in human
            mitochondria.
REFERENCE   4  (bases 1 to 1942)
  AUTHORS   Al Khatib,I., Deng,J., Symes,A., Kerr,M., Zhang,H., Huang,S.N.,
            Pommier,Y., Khan,A. and Shutt,T.E.
  TITLE     Functional characterization of two variants of mitochondrial
            topoisomerase TOP1MT that impact regulation of the mitochondrial
            genome
  JOURNAL   J Biol Chem 298 (10), 102420 (2022)
   PUBMED   36030054
  REMARK    GeneRIF: Functional characterization of two variants of
            mitochondrial topoisomerase TOP1MT that impact regulation of the
            mitochondrial genome.
REFERENCE   5  (bases 1 to 1942)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   6  (bases 1 to 1942)
  AUTHORS   Bogenhagen,D.F., Rousseau,D. and Burke,S.
  TITLE     The layered structure of human mitochondrial DNA nucleoids
  JOURNAL   J Biol Chem 283 (6), 3665-3675 (2008)
   PUBMED   18063578
REFERENCE   7  (bases 1 to 1942)
  AUTHORS   Zhang,H., Meng,L.H. and Pommier,Y.
  TITLE     Mitochondrial topoisomerases and alternative splicing of the human
            TOP1mt gene
  JOURNAL   Biochimie 89 (4), 474-481 (2007)
   PUBMED   17161897
  REMARK    Review article
REFERENCE   8  (bases 1 to 1942)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (bases 1 to 1942)
  AUTHORS   Zhang,H., Meng,L.H., Zimonjic,D.B., Popescu,N.C. and Pommier,Y.
  TITLE     Thirteen-exon-motif signature for vertebrate nuclear and
            mitochondrial type IB topoisomerases
  JOURNAL   Nucleic Acids Res 32 (7), 2087-2092 (2004)
   PUBMED   15096574
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 1942)
  AUTHORS   Zhang,H., Barcelo,J.M., Lee,B., Kohlhagen,G., Zimonjic,D.B.,
            Popescu,N.C. and Pommier,Y.
  TITLE     Human mitochondrial topoisomerase I
  JOURNAL   Proc Natl Acad Sci U S A 98 (19), 10608-10613 (2001)
   PUBMED   11526219
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF349017.1 and AW248607.1.
            
            On May 17, 2019 this sequence version replaced NM_052963.2.
            
            Summary: 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. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF349017.1, BC044646.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000329245.9/
                                                  ENSP00000328835.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1910              AF349017.1         1-1910
            1911-1942           AW248607.1         6-37                c
FEATURES             Location/Qualifiers
     source          1..1942
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..1942
                     /gene="TOP1MT"
                     /note="DNA topoisomerase I mitochondrial"
                     /db_xref="GeneID:116447"
                     /db_xref="HGNC:HGNC:29787"
                     /db_xref="MIM:606387"
     exon            1..141
                     /gene="TOP1MT"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..1825
                     /gene="TOP1MT"
                     /EC_number="5.6.2.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; mitochondrial topoisomerase IB; topoisomerase
                     (DNA) I, mitochondrial"
                     /codon_start=1
                     /product="DNA topoisomerase I, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_443195.1"
                     /db_xref="CCDS:CCDS6400.1"
                     /db_xref="GeneID:116447"
                     /db_xref="HGNC:HGNC:29787"
                     /db_xref="MIM:606387"
                     /translation="MRVVRLLRLRAALTLLGEVPRRPASRGVPGSRRTQKGSGARWEK
                     EKHEDGVKWRQLEHKGPYFAPPYEPLPDGVRFFYEGRPVRLSVAAEEVATFYGRMLDH
                     EYTTKEVFRKNFFNDWRKEMAVEEREVIKSLDKCDFTEIHRYFVDKAAARKVLSREEK
                     QKLKEEAEKLQQEFGYCILDGHQEKIGNFKIEPPGLFRGRGDHPKMGMLKRRITPEDV
                     VINCSRDSKIPEPPAGHQWKEVRSDNTVTWLAAWTESVQNSIKYIMLNPCSKLKGETA
                     WQKFETARRLRGFVDEIRSQYRADWKSREMKTRQRAVALYFIDKLALRAGNEKEDGEA
                     ADTVGCCSLRVEHVQLHPEADGCQHVVEFDFLGKDCIRYYNRVPVEKPVYKNLQLFME
                     NKDPRDDLFDRLTTTSLNKHLQELMDGLTAKVFRTYNASITLQEQLRALTRAEDSIAA
                     KILSYNRANRVVAILCNHQRATPSTFEKSMQNLQTKIQAKKEQVAEARAELRRARAEH
                     KAQGDGKSRSVLEKKRRLLEKLQEQLAQLSVQATDKEENKQVALGTSKLNYLDPRISI
                     AWCKRFRVPVEKIYSKTQRERFAWALAMAGEDFEF"
     exon            142..257
                     /gene="TOP1MT"
                     /inference="alignment:Splign:2.1.0"
     exon            258..379
                     /gene="TOP1MT"
                     /inference="alignment:Splign:2.1.0"
     exon            380..502
                     /gene="TOP1MT"
                     /inference="alignment:Splign:2.1.0"
     exon            503..690
                     /gene="TOP1MT"
                     /inference="alignment:Splign:2.1.0"
     exon            691..835
                     /gene="TOP1MT"
                     /inference="alignment:Splign:2.1.0"
     exon            836..979
                     /gene="TOP1MT"
                     /inference="alignment:Splign:2.1.0"
     exon            980..1165
                     /gene="TOP1MT"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1234
                     /gene="TOP1MT"
                     /inference="alignment:Splign:2.1.0"
     exon            1235..1349
                     /gene="TOP1MT"
                     /inference="alignment:Splign:2.1.0"
     exon            1350..1477
                     /gene="TOP1MT"
                     /inference="alignment:Splign:2.1.0"
     exon            1478..1572
                     /gene="TOP1MT"
                     /inference="alignment:Splign:2.1.0"
     exon            1573..1722
                     /gene="TOP1MT"
                     /inference="alignment:Splign:2.1.0"
     exon            1723..1942
                     /gene="TOP1MT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1904..1909
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOP1MT"
                     /note="hexamer: AATAAA"
     polyA_site      1910
                     /gene="TOP1MT"
                     /note="major polyA site"
ORIGIN      
        1 ctttcccgga ggctggcaga tgcgcgtggt gcggctgctg cggctccggg cggctctgac
       61 gctgctcggg gaggtccccc gccgcccggc ctcccggggt gtcccgggct cgcgcaggac
      121 gcagaagggc agtggagcca ggtgggagaa ggagaagcac gaagacgggg tgaagtggag
      181 acagctggag cacaagggcc cgtacttcgc acccccatac gagccccttc ccgacggagt
      241 gcgtttcttc tatgaaggaa ggcctgtgag attgagcgtg gcagcggagg aggtcgccac
      301 tttttatggg aggatgttag atcatgaata cacaacaaag gaggttttcc ggaagaactt
      361 cttcaatgac tggcgaaagg aaatggcggt ggaagagagg gaagtcatca agagcctgga
      421 caagtgtgac ttcacggaga tccacagata ctttgtggac aaggccgcag cccggaaagt
      481 cctgagcagg gaggagaagc agaagctaaa agaagaggca gaaaaacttc agcaagagtt
      541 cggctactgt attttagatg gtcaccaaga aaaaataggc aacttcaaga ttgagccgcc
      601 tggcttgttc cgtggccgtg gcgaccatcc caagatgggg atgctgaaga gaaggatcac
      661 gccagaggat gtggttatca actgcagcag ggactcgaag atccccgagc cgccggcggg
      721 gcaccagtgg aaggaggtgc gctccgataa caccgtcacg tggctggcag cttggaccga
      781 gagcgttcag aactccatca agtacatcat gctgaaccct tgctcgaagc tgaaggggga
      841 gacagcttgg cagaagtttg aaacagctcg acgcctgcgg ggatttgtgg acgagatccg
      901 ctcccagtac cgggctgact ggaagtctcg ggaaatgaag acgagacagc gggcggtggc
      961 cctgtatttc atcgataagc tggcactgag agcaggaaat gagaaggagg acggtgaggc
     1021 ggccgacacc gtgggctgct gttccctccg cgtggagcac gtccagctgc acccggaggc
     1081 cgatggctgc caacacgtgg tggaatttga cttcctgggg aaggactgca tccgctacta
     1141 caacagagtg ccggtggaga agccggtgta caagaactta cagctcttta tggagaacaa
     1201 ggacccccgg gacgacctct tcgacaggct gaccacgacc agcctgaaca agcacctcca
     1261 ggagctgatg gacgggctga cggccaaggt gttccggacc tacaacgcct ccatcactct
     1321 gcaggagcag ctgcgggccc tgacgcgcgc cgaggacagc atagcagcta agatcttatc
     1381 ctacaaccga gccaaccgag tcgtggccat tctctgcaac catcagcgag caacccccag
     1441 tacgttcgag aagtcgatgc agaatctcca gacgaagatc caggcaaaga aggagcaggt
     1501 ggctgaggcc agggcagagc tgaggagggc gagggctgag cacaaagccc aaggggatgg
     1561 caagtccagg agtgtcctgg agaagaagag gcggctcctg gagaagctgc aggagcagct
     1621 ggcgcagctg agtgtgcagg ccacggacaa ggaggagaac aagcaggtgg ccctgggcac
     1681 gtccaagctc aactacctgg accccaggat cagcattgcc tggtgcaagc ggttcagggt
     1741 gccagtggag aagatctaca gcaaaacaca gcgggagagg ttcgcctggg ctctcgccat
     1801 ggcaggagaa gactttgaat tctaacgacg agccgtgttg aaacttcttt tgtatgtgtg
     1861 tgtgtttttt tcactattaa agcagtactg gggaattttg tacaataaaa tgtgtgcaag
     1921 tgcttgtaca tcactagaaa aa
//
