LOCUS       NM_153796               3490 bp    mRNA    linear   ROD 03-JUN-2024
DEFINITION  Mus musculus twinkle mtDNA helicase (Twnk), transcript variant 1,
            mRNA.
ACCESSION   NM_153796
VERSION     NM_153796.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3490)
  AUTHORS   Ignatenko,O., Malinen,S., Rybas,S., Vihinen,H., Nikkanen,J.,
            Kononov,A., Jokitalo,E.S., Ince-Dunn,G. and Suomalainen,A.
  TITLE     Mitochondrial dysfunction compromises ciliary homeostasis in
            astrocytes
  JOURNAL   J Cell Biol 222 (1) (2023)
   PUBMED   36383135
REFERENCE   2  (bases 1 to 3490)
  AUTHORS   Ignatenko,O., Nikkanen,J., Kononov,A., Zamboni,N., Ince-Dunn,G. and
            Suomalainen,A.
  TITLE     Mitochondrial spongiotic brain disease: astrocytic stress and
            harmful rapamycin and ketosis effect
  JOURNAL   Life Sci Alliance 3 (9), e202000797 (2020)
   PUBMED   32737078
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3490)
  AUTHORS   Kuhl,I., Miranda,M., Atanassov,I., Kuznetsova,I., Hinze,Y.,
            Mourier,A., Filipovska,A. and Larsson,N.G.
  TITLE     Transcriptomic and proteomic landscape of mitochondrial dysfunction
            reveals secondary coenzyme Q deficiency in mammals
  JOURNAL   Elife 6, e30952 (2017)
   PUBMED   29132502
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3490)
  AUTHORS   Inoue,T., Ikeda,M., Ide,T., Fujino,T., Matsuo,Y., Arai,S., Saku,K.
            and Sunagawa,K.
  TITLE     Twinkle overexpression prevents cardiac rupture after myocardial
            infarction by alleviating impaired mitochondrial biogenesis
  JOURNAL   Am J Physiol Heart Circ Physiol 311 (3), H509-H519 (2016)
   PUBMED   27342873
  REMARK    GeneRIF: Twinkle overexpression alleviated impaired mitochondrial
            biogenesis in the border area through maintained mtDNA copy number
            and thereby prevented cardiac rupture accompanied by the reduction
            of apoptosis and oxidative stress, and suppression of MMP activity.
REFERENCE   5  (bases 1 to 3490)
  AUTHORS   Nikkanen,J., Forsstrom,S., Euro,L., Paetau,I., Kohnz,R.A., Wang,L.,
            Chilov,D., Viinamaki,J., Roivainen,A., Marjamaki,P., Liljenback,H.,
            Ahola,S., Buzkova,J., Terzioglu,M., Khan,N.A., Pirnes-Karhu,S.,
            Paetau,A., Lonnqvist,T., Sajantila,A., Isohanni,P., Tyynismaa,H.,
            Nomura,D.K., Battersby,B.J., Velagapudi,V., Carroll,C.J. and
            Suomalainen,A.
  TITLE     Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools
            and Remodel One-Carbon Metabolism
  JOURNAL   Cell Metab 23 (4), 635-648 (2016)
   PUBMED   26924217
REFERENCE   6  (bases 1 to 3490)
  AUTHORS   Loving,C.L., Osorio,M., Kim,Y.G., Nunez,G., Hughes,M.A. and
            Merkel,T.J.
  TITLE     Nod1/Nod2-mediated recognition plays a critical role in induction
            of adaptive immunity to anthrax after aerosol exposure
  JOURNAL   Infect Immun 77 (10), 4529-4537 (2009)
   PUBMED   19620350
REFERENCE   7  (bases 1 to 3490)
  AUTHORS   Goffart,S., Cooper,H.M., Tyynismaa,H., Wanrooij,S., Suomalainen,A.
            and Spelbrink,J.N.
  TITLE     Twinkle mutations associated with autosomal dominant progressive
            external ophthalmoplegia lead to impaired helicase function and in
            vivo mtDNA replication stalling
  JOURNAL   Hum Mol Genet 18 (2), 328-340 (2009)
   PUBMED   18971204
REFERENCE   8  (bases 1 to 3490)
  AUTHORS   Tyynismaa,H., Mjosund,K.P., Wanrooij,S., Lappalainen,I.,
            Ylikallio,E., Jalanko,A., Spelbrink,J.N., Paetau,A. and
            Suomalainen,A.
  TITLE     Mutant mitochondrial helicase Twinkle causes multiple mtDNA
            deletions and a late-onset mitochondrial disease in mice
  JOURNAL   Proc Natl Acad Sci U S A 102 (49), 17687-17692 (2005)
   PUBMED   16301523
  REMARK    GeneRIF: generated transgenic mice expressing mouse Twinkle with
            progressive external ophthalmoplegia patient mutations
REFERENCE   9  (bases 1 to 3490)
  AUTHORS   Tyynismaa,H., Sembongi,H., Bokori-Brown,M., Granycome,C.,
            Ashley,N., Poulton,J., Jalanko,A., Spelbrink,J.N., Holt,I.J. and
            Suomalainen,A.
  TITLE     Twinkle helicase is essential for mtDNA maintenance and regulates
            mtDNA copy number
  JOURNAL   Hum Mol Genet 13 (24), 3219-3227 (2004)
   PUBMED   15509589
  REMARK    GeneRIF: Essential for mtDNA maintenance, may be a key regulator of
            mtDNA copy number.
REFERENCE   10 (bases 1 to 3490)
  AUTHORS   Spelbrink,J.N., Li,F.Y., Tiranti,V., Nikali,K., Yuan,Q.P.,
            Tariq,M., Wanrooij,S., Garrido,N., Comi,G., Morandi,L., Santoro,L.,
            Toscano,A., Fabrizi,G.M., Somer,H., Croxen,R., Beeson,D.,
            Poulton,J., Suomalainen,A., Jacobs,H.T., Zeviani,M. and Larsson,C.
  TITLE     Human mitochondrial DNA deletions associated with mutations in the
            gene encoding Twinkle, a phage T7 gene 4-like protein localized in
            mitochondria
  JOURNAL   Nat Genet 28 (3), 223-231 (2001)
   PUBMED   11431692
  REMARK    Erratum:[Nat Genet 2001 Sep;29(1):100]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC132957.3, CA534850.1, BF225236.1, CA537258.1, AK054159.1 and
            AV002195.1.
            
            On Feb 8, 2017 this sequence version replaced NM_153796.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC071195.1, AK146244.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1402              AC132957.3         113831-115232
            1403-1776           CA534850.1         1-374
            1777-1987           BF225236.1         1-211
            1988-2361           CA537258.1         1-374
            2362-3488           AK054159.1         660-1786
            3489-3490           AV002195.1         390-391
FEATURES             Location/Qualifiers
     source          1..3490
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 38.19 cM"
     gene            1..3490
                     /gene="Twnk"
                     /gene_synonym="D19Ertd626e; PEO; Peo1; Twinl"
                     /note="twinkle mtDNA helicase"
                     /db_xref="GeneID:226153"
                     /db_xref="MGI:MGI:2137410"
     exon            1..1818
                     /gene="Twnk"
                     /gene_synonym="D19Ertd626e; PEO; Peo1; Twinl"
                     /inference="alignment:Splign:2.1.0"
     CDS             573..2630
                     /gene="Twnk"
                     /gene_synonym="D19Ertd626e; PEO; Peo1; Twinl"
                     /EC_number="5.6.2.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     twinkle protein, mitochondrial; T7 gp4-like protein with
                     intramitochondrial nucleoid localization; progressive
                     external ophthalmoplegia 1 protein homolog; putative
                     T7-like mitochodrial DNA helicase twinky"
                     /codon_start=1
                     /product="twinkle mtDNA helicase isoform 1"
                     /protein_id="NP_722491.2"
                     /db_xref="CCDS:CCDS29854.1"
                     /db_xref="GeneID:226153"
                     /db_xref="MGI:MGI:2137410"
                     /translation="MWLLLRRAYPLRILLPLRGEWVGRRGLPRSLAPGPPRRRYRKEA
                     LPALEMPVSPVTTTEIRQYLRAHGIPFQDGHSCLRAPSPFVVSSDIKNEKKDAPTSFC
                     LFIDKTTGHFLCMTSLAEGSWEDLQASVEGRGDGAKEGVLLREGPEAEVREEVLRIWN
                     RAIPLWELPDPEEAQLARVMFGLTKVTDDTLRRFSVRYLRSARSLVFPWFTPGSSGLR
                     GLKLLGAEGQENGVQYVETTIPRPGVYHNLFGLPLISRRDTEVVVTSRELDSLALSQS
                     TGLPTLSLPRGTVCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKLFARKLNPKRCSLV
                     RPGNQQPRPLEALNQGLSLPRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGVR
                     WSRFPDLNRLLKGHRKGELTVFTGPTGSGKTTFISEYALDLCTQGVNTLWGSFEISNV
                     RLARVMLTQFAVTRLEEQLDKYEEWADRFEDLPLYFMTFHGQQSIRSVIDTMQHAVYV
                     YDVCHVVIDNLQFMMGHEQLSSDRIAAQDYIVGAFRKFATDNSCHVTLVIHPRKEDDD
                     KELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNK
                     NSLTFSIPPKSKARLKKIKDDNGLVAKKSSSGKKGAAHQNPEICLGQDPSPAQPDTSK
                     SSG"
     exon            1819..2059
                     /gene="Twnk"
                     /gene_synonym="D19Ertd626e; PEO; Peo1; Twinl"
                     /inference="alignment:Splign:2.1.0"
     exon            2060..2167
                     /gene="Twnk"
                     /gene_synonym="D19Ertd626e; PEO; Peo1; Twinl"
                     /inference="alignment:Splign:2.1.0"
     exon            2168..2309
                     /gene="Twnk"
                     /gene_synonym="D19Ertd626e; PEO; Peo1; Twinl"
                     /inference="alignment:Splign:2.1.0"
     exon            2310..3490
                     /gene="Twnk"
                     /gene_synonym="D19Ertd626e; PEO; Peo1; Twinl"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3465..3470
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Twnk"
                     /gene_synonym="D19Ertd626e; PEO; Peo1; Twinl"
                     /note="hexamer: AATGAA"
     polyA_site      3488
                     /gene="Twnk"
                     /gene_synonym="D19Ertd626e; PEO; Peo1; Twinl"
                     /note="major polyA site"
ORIGIN      
        1 ggagagtggt gacgcgaagc tgggggcggg agcgtggagc tttgaagtgg agggcagagc
       61 aagggagcca gtgaggaagc cgggccggag cgcgtgacct ccagcagtgt ggagagtgcc
      121 tgtgagcgct gggggctcgg agcgcctgga gttggggttc agacgggatg cagaaagcgg
      181 tagagatgag gttagccagg agagtccgta gaggggtagt agacgtgaag agatgataca
      241 gagaagccgt ttagatcgag ggaccgtaga aggatctaga agtgagctgg tggagagaaa
      301 tccgtaaagg acctagagat aggagaatcc tcagagagag gcgtagacgc gaaagggcag
      361 tgtaggtgtg tagggatgaa gtagcaatac acaggcaacc gaggggagta agaactgtgt
      421 tcgtgaagaa gtttgaggag ggataaagag aaaagccagt aggagtgatt tctgcgagtg
      481 ccttgtagaa ggtttcctag ggtctggttt agtgaaggca ctgaaccaga caacaaaagc
      541 ttttgcagta gtggcgtccc actccattag gaatgtggct tcttctccga cgtgcatatc
      601 ccctccggat cttgctgcca ctgcgtggcg agtgggtggg taggaggggc ctgcccagaa
      661 gcttggcgcc aggccctccc cgcagaaggt acagaaaaga agcgctccca gccttagaga
      721 tgccagtgtc gccggtgact acgactgaaa tccgccagta tttacgtgca catgggatcc
      781 ccttccagga tggccacagc tgccttcgag caccaagtcc ctttgtggtg tcctcagaca
      841 tcaaaaatga gaaaaaggac gctcccactt ccttctgcct cttcattgac aagaccacag
      901 gacactttct ttgcatgacc agcctagcag aagggagctg ggaagacttg caggccagtg
      961 tggagggacg aggggatggg gccaaagagg gtgtcctact tagggaaggc ccagaagctg
     1021 aggttaggga ggaggtcttg aggatctgga accgagccat acctctttgg gagcttccag
     1081 accctgagga agcccagcta gctcgtgtga tgtttggcct taccaaggtg acagatgaca
     1141 cactcaggcg attcagtgtc cgctatcttc gatctgctcg aagtctggtc ttcccttggt
     1201 tcacccctgg gagctcagga ttacgtggcc tgaagctact aggggctgag ggtcaggaaa
     1261 atggagtaca gtatgtagag accaccatcc cccggcctgg tgtctatcac aacctatttg
     1321 gattaccact gatcagccgg agagatactg aggtggttgt gacaagtcgt gaactggaca
     1381 gcctggcctt gagccagtcg acggggctgc caaccctttc cctaccccga gggacagtct
     1441 gcttaccccc agccttactg ccttaccttg aacagttccg tcggattgtg ttctggttag
     1501 gagatgacct tcgatcctgg gaagctgcca aactgtttgc tcgaaaactc aaccccaagc
     1561 gatgctctct ggtgaggcct gggaaccaac agcctcgtcc cctggaggcc ttaaaccaag
     1621 gcttaagtct tccccgtatt cttcgtaccg ccctacctgc ctggcacaag tctattgtgt
     1681 cttttcggca gctccgagag gaggttttag gagaactgtc aaatgtagag caagcggctg
     1741 gtgtccgttg gagccgcttc ccagacctga atcgtctgct gaagggacat cggaagggcg
     1801 agttgacggt ctttacaggg ccaacaggca gtggcaagac aacattcatc agtgagtatg
     1861 ccctggactt gtgtacccag ggagtgaaca cactgtgggg tagctttgag atcagcaacg
     1921 tgagactagc ccgggtcatg ctgacccagt ttgctgtgac acggctggaa gagcaactgg
     1981 acaagtatga agagtgggca gaccgttttg aggacctgcc tctctacttc atgactttcc
     2041 acggacaaca gagcatcagg tccgtcatag acacaatgca acatgctgtc tacgtctatg
     2101 acgtctgtca tgtagtcatt gacaacttgc agttcatgat gggtcacgag cagctctcct
     2161 ctgacaggat tgcagctcaa gactacattg ttggagcctt tcggaagttt gctacagaca
     2221 acagttgcca cgtgactctg gtcattcacc ctcggaaaga agacgacgac aaggaactgc
     2281 agacagcatc cattttcggc tcagccaaag caagccaaga agcagacaat gttctgatct
     2341 tacaggatag gaaactggtg actgggcctg ggaaacggta tctgcaggtg tccaagaatc
     2401 gctttgatgg agacgtaggt gtcttcccac tggagttcaa caagaattcc cttaccttct
     2461 ccatcccacc caagagcaaa gcccgactca agaagatcaa ggacgacaat ggactagtgg
     2521 ccaaaaaatc ctcttctggc aaaaaagggg ctgcgcacca gaaccctgag atttgcttag
     2581 gccaggaccc cagccccgcc cagccagata cctccaagtc ctcagggtga aagcagtgca
     2641 ctgctgctcg ctgaaatgag cctggtggag caggccttct gctggggctc ttccatatag
     2701 tcctgagcta cagaaccctt cccagcccag ggctggactc catggtgaaa atttttaatt
     2761 gagcagctac tggggaatct cctgtatgct ggtttgtgtt tgttttttcc ccataggttt
     2821 tctgtatagc actggaaaga caaaggctgt ttccaaagaa ccagcgtttt ggtgaaagga
     2881 acgaagcaaa gggaaggatg ctagactcag ctcgttttgg gtttttgttt tttgtttttc
     2941 cagatagggt ttcttctctg tatagccctg gctgtcttgg aactcacttt gtagaccagg
     3001 ctggcctcga actcagaaat ccgcctgcct cgtcagcttg ttttgattag tcagtctgaa
     3061 aaggtgtctg aacagagtgc atgggagaac tagacatggg cctgtgaacc tctgcagaaa
     3121 gggatccaga tggaaacacg ccagaccctc aggtgggaat gagcaaggca gatgaagagg
     3181 ccaggcccct gaagctgccg tgaaacagga ggtttgctga agctccagag ccgaaggctg
     3241 atgcggtagg caccgagcct ctctgctctg ctttgtagag ccaggcagaa gaattgatct
     3301 gaggtgctga tcctgtactc ttagggcttc aaagatggaa gctgcttccc actggaccat
     3361 ggaaagaagc tgtaagcctg cagtgcctgc cccgtgggtg ccgatttcac tgctgcctct
     3421 gacagctgga gctaggactc ttttgtagag ccttttccag tttgaatgaa acatttctat
     3481 tgcctttgtt
//
