LOCUS       NM_001107599            3601 bp    mRNA    linear   ROD 12-JUN-2023
DEFINITION  Rattus norvegicus twinkle mtDNA helicase (Twnk), mRNA.
ACCESSION   NM_001107599 XM_001063420 XM_219939
VERSION     NM_001107599.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 3601)
  AUTHORS   Tewari S, Santos JM and Kowluru RA.
  TITLE     Damaged mitochondrial DNA replication system and the development of
            diabetic retinopathy
  JOURNAL   Antioxid Redox Signal 17 (3), 492-504 (2012)
   PUBMED   22229649
REFERENCE   2  (bases 1 to 3601)
  AUTHORS   Tewari S, Zhong Q, Santos JM and Kowluru RA.
  TITLE     Mitochondria DNA replication and DNA methylation in the metabolic
            memory associated with continued progression of diabetic
            retinopathy
  JOURNAL   Invest Ophthalmol Vis Sci 53 (8), 4881-4888 (2012)
   PUBMED   22743328
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3601)
  AUTHORS   Hong D, Bi H, Yao S, Wang Z and Yuan Y.
  TITLE     Clinical phenotype of autosomal dominant progressive external
            ophthalmoplegia in a family with a novel mutation in the C10orf2
            gene
  JOURNAL   Muscle Nerve 41 (1), 92-99 (2010)
   PUBMED   19705478
  REMARK    GeneRIF: A heterozygous missense mutation of c.1342A>G in the
            C10orf2 gene resulting in the p.448N>D mutation in the protein was
            found in the proband and four other affected family members.
REFERENCE   4  (bases 1 to 3601)
  AUTHORS   Goffart S, Cooper HM, Tyynismaa H, Wanrooij S, Suomalainen A and
            Spelbrink JN.
  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   5  (bases 1 to 3601)
  AUTHORS   Bogenhagen DF, 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   6  (bases 1 to 3601)
  AUTHORS   Korhonen JA, Pham XH, Pellegrini M and Falkenberg M.
  TITLE     Reconstitution of a minimal mtDNA replisome in vitro
  JOURNAL   EMBO J 23 (12), 2423-2429 (2004)
   PUBMED   15167897
REFERENCE   7  (bases 1 to 3601)
  AUTHORS   Liu T, Lu B, Lee I, Ondrovicova G, Kutejova E and Suzuki CK.
  TITLE     DNA and RNA binding by the mitochondrial lon protease is regulated
            by nucleotide and protein substrate
  JOURNAL   J Biol Chem 279 (14), 13902-13910 (2004)
   PUBMED   14739292
REFERENCE   8  (bases 1 to 3601)
  AUTHORS   Korhonen JA, Gaspari M and Falkenberg M.
  TITLE     TWINKLE Has 5' -> 3' DNA helicase activity and is specifically
            stimulated by mitochondrial single-stranded DNA-binding protein
  JOURNAL   J Biol Chem 278 (49), 48627-48632 (2003)
   PUBMED   12975372
REFERENCE   9  (bases 1 to 3601)
  AUTHORS   Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M,
            Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A,
            Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A,
            Jacobs HT, 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     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from CH473986.1.
            
            On or before Oct 4, 2007 this sequence version replaced
            XM_219939.4, XM_001063420.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: EV770275.1, CA504624.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMD00132261, SAMD00132262
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..3601
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="1"
                     /map="1q54"
     gene            1..3601
                     /gene="Twnk"
                     /gene_synonym="Peo1"
                     /note="twinkle mtDNA helicase"
                     /db_xref="GeneID:309441"
                     /db_xref="RGD:1307884"
     exon            1..1958
                     /gene="Twnk"
                     /gene_synonym="Peo1"
                     /inference="alignment:Splign:2.1.0"
     CDS             713..2764
                     /gene="Twnk"
                     /gene_synonym="Peo1"
                     /EC_number="3.6.4.12"
                     /note="progressive external ophthalmoplegia 1 homolog;
                     twinkle protein, mitochondrial"
                     /codon_start=1
                     /product="twinkle mtDNA helicase"
                     /protein_id="NP_001101069.1"
                     /db_xref="GeneID:309441"
                     /db_xref="RGD:1307884"
                     /translation="MWLLLRRAYPLRILLPLRGEWMGRRGLPRSLAPGPPRRRYRKEA
                     LPALEVPVSPVTTTEIRQYLRAHGIPFQDGHSCLRAPSPFVAPSDIKNQKKDATTSFC
                     LFIDKTTGHFLCMTSLAEGSWEDLQASVEGRGDGAKEGILLGEGPEAEDREEVLRIWN
                     RAIPLWELPDPQETQLARVMFGLTKVTDDTLRRFNVRYLRSTRSLVFPWFTPGSSGLR
                     GLKLLGVEGQENGVQYVETTIPRPGVYHNLFGLPLIGRRDTEVVLTSRELDSLALSQS
                     TGLPTLSLPRGTVCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKLFARKLNPKRCSLV
                     RPGNQQPRPLEALNQGLSLPRILRTALPAWHKSIVSFRQLREEVLGELSNVDQAAGVR
                     WSRFPDLNRLLKGHRKGELTVFTGPTGSGKTTFISEYALDLCTQGVNTLWGSFEISNV
                     RLARVMLTQFAVTRLEEQLDKYEEWADRFEDLPLYFMTFHGQQSIRSVIDTMQHAVYV
                     YDVCHVVIDNLQFMMGHEQLSTDRIAAQDYIVGAFRKFATDNSCHVTLVIHPRKEDDD
                     KELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNK
                     SSLTFSIPPKSKARLKKIKDDNGLVAKKSSSGKKGSAHQNSETCIGQDPCQPDTSPSS
                     R"
     exon            1959..2199
                     /gene="Twnk"
                     /gene_synonym="Peo1"
                     /inference="alignment:Splign:2.1.0"
     exon            2200..2307
                     /gene="Twnk"
                     /gene_synonym="Peo1"
                     /inference="alignment:Splign:2.1.0"
     exon            2308..2449
                     /gene="Twnk"
                     /gene_synonym="Peo1"
                     /inference="alignment:Splign:2.1.0"
     exon            2450..3601
                     /gene="Twnk"
                     /gene_synonym="Peo1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aggagagtgg tgacgcgaag ctgggggcgg gagcgtggag cttctgaagc cgagggtaga
       61 gccctggagc ctgtaaggga gccgggtagg agcgcgtgac ctccagctgt gtggagggtc
      121 cctgtgactg ctaagagcta agagcgcctg gagttggggt tcagacagga tgcagagagc
      181 tatagagatg aggttggcga gaagagtccg tagaggggta gtagacgtga agagatgata
      241 cagagaagcc ttttagattg aggggccgta gaaggcttta gaagtgagct ggtggagaga
      301 aatcgtaaag gacctacaag tatgagagtc ttcagagagg ggcgtagacg cgaaagggta
      361 gtataggtgt gtggggttga agtaacaata tacaggcaac caaggggatt aagaattgtg
      421 ttcgtggggc tggggattta gctcagtggt agagcgctta cctaggaagc gcaaggccct
      481 gggttcggtc cccagctccg aaaaaaaaaa agaacaaaaa aaaaaaaaaa aaaacaaaaa
      541 aaacccaaaa aacaagaatt gtgttcgtaa agaaatttga ggagaaatag agaaaaggta
      601 gcaatagtga gttctgtgag ttcttgtgaa gggctcctag ggtctggcct attaaaggta
      661 caaaaccaga caccaaaagt ttttgcagta gtggcatccc actccattag gaatgtggct
      721 ccttctccgg cgtgcttatc ccctccggat cttgctgcca ctgcgtgggg agtggatggg
      781 taggagaggc ctgccccgaa gcttggctcc aggccctccc cgaagaaggt acagaaaaga
      841 agcgcttcca gccttagagg taccagtatc acctgtgact acaactgaaa tccgccaata
      901 tttacgagca catgggatcc ccttccagga tggccacagc tgccttcgag caccaagtcc
      961 ctttgtggca ccctcagaca tcaaaaatca gaagaaggat gctaccactt ccttctgcct
     1021 cttcatcgac aagaccacag gacactttct ctgcatgacc agcctagcag aagggagctg
     1081 ggaagacctc caggccagtg tggagggacg aggcgatggg gccaaagagg gaatcctact
     1141 tggggagggc ccagaagctg aggacaggga ggaggtcttg agaatctgga accgagccat
     1201 acctctttgg gagctgcctg atccccagga aacccagcta gctcgtgtga tgtttggcct
     1261 taccaaggtg acagatgaca cactcaggag attcaatgtc cgctatcttc gatctactcg
     1321 aagtctggtc ttcccttggt tcacccctgg gagctcagga ttacgtggcc tgaagctact
     1381 aggggttgag ggtcaggaaa atggagtaca gtatgtagag accaccattc cccggcctgg
     1441 tgtctatcac aacctatttg gattacccct gatcggccgt agagacactg aggtggtcct
     1501 gacaagtcga gagctggaca gcctggcctt gagccagtcc acggggctgc caaccctttc
     1561 cctaccccga ggaacggtct gcttaccccc agccctactc ccttacctcg aacagttccg
     1621 gaggattgtg ttctggctag gggatgacct tcgatcgtgg gaagctgcca aactgtttgc
     1681 ccgaaaactg aaccccaagc gatgctcttt ggtgaggcct gggaaccaac aacctcgtcc
     1741 cctggaggcc ttaaaccaag gcttaagtct tccccgtatt ctccgtactg ccctccctgc
     1801 ctggcacaag tctattgtgt cttttcgcca gctccgagaa gaggttttag gagagctatc
     1861 aaatgtggac caagcagccg gtgtccgttg gagccgattc ccagacctta atcggctgct
     1921 gaagggtcat cggaagggcg agctgacggt ctttacaggg ccaacaggca gtggcaagac
     1981 aacattcatc agtgagtatg ccctggactt gtgtacccag ggagtgaaca cactgtgggg
     2041 tagctttgag atcagcaatg tgagactagc ccgggtcatg ctgactcagt ttgctgtgac
     2101 acggctagaa gaacaactgg acaagtatga agagtgggca gaccgttttg aggacctgcc
     2161 tctctatttc atgactttcc acggacaaca gagcatcagg tctgtcatag acacaatgca
     2221 acatgctgtc tacgtctatg acgtttgtca tgtagtcatc gacaacttgc agttcatgat
     2281 gggtcatgag cagctctcta ctgacaggat cgcagctcaa gactacattg ttggagcctt
     2341 tcggaagttt gccacagaca atagctgcca cgtgactctg gttattcacc cacggaaaga
     2401 agatgacgac aaggaactac agacagcatc catttttggc tcagccaaag ccagccaaga
     2461 agcagacaat gttctgatct tgcaggacag gaagctggtg actgggcctg ggaaacggta
     2521 tctgcaggtg tccaaaaatc gctttgatgg agacgtaggc gtcttcccac ttgagttcaa
     2581 caagagttcc cttaccttct ccatcccacc taagagcaaa gcccgactca agaagattaa
     2641 ggatgacaat ggactagtgg ccaagaagtc ctcctctgga aaaaaagggt ctgcgcacca
     2701 gaactctgag acttgcatag gccaggaccc ctgccagcca gatacctccc cgtcctcaag
     2761 gtgaatgcag tcagagctgc ttgctgaagt gaccctggtg aaccaggctg acacagactc
     2821 ttggccttct gctggggctc gtcccgagtg agcctttccc agcccagggc tcggttccat
     2881 ggtgaaaagt ttaattcagc agctactaag gctctcctat atgctggttc aggttttttc
     2941 cccataggtt ttcatgtata gcactgaaaa gacaaagtct gtttccaaag aaccagcatc
     3001 ttggggttgg ggatttagct cagtggtaga gcgcttgcct aggaagcgca aggccctggg
     3061 ttcaatcccc agctccgaaa aaaaagaacc aaaaaaaaaa aaaaaaaaag aaccagcatc
     3121 ttggtgaaag gaacaaagct aagtgggact gctcagctag ttttgatcag tcaccctaaa
     3181 aagatggctg atcagagtgc atgtgagaac catggtctgg tgaacctctg gagaaaggga
     3241 tccaggtgga gaaacaccaa aatcacaggg gggaatgagc aagtcagata aagagggcgg
     3301 accctgaacc tgccacgaaa caggaggctt gctgggactc cagcatgttg gcattcggag
     3361 cggaagagta atgcagtggg cacctctctg ctctgctttg tcgagccagg cataagaatt
     3421 gatctgaggt gcttatcctg tgctgtcaga gcctcaaagc tggaccatgg agagaagctg
     3481 tgagcctgca gtgcctgccc ccttgatgcc gattccactg tgtgctgctg ccttggacag
     3541 cgggagctag gactcttggt ggagcctttt ccagttgaat gaagcatttc tatggcctct
     3601 g
//
