LOCUS       AF292004                2240 bp    mRNA    linear   HUM 02-JUL-2001
DEFINITION  Homo sapiens putative T7-like mitochondrial DNA helicase (C10orf2)
            mRNA, complete cds; nuclear gene for mitochondrial product;
            alternatively spliced.
ACCESSION   AF292004
VERSION     AF292004.1
KEYWORDS    .
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 2240)
  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
REFERENCE   2  (bases 1 to 2240)
  AUTHORS   Spelbrink,J.N. and Jacobs,H.T.
  TITLE     Direct Submission
  JOURNAL   Submitted (01-AUG-2000) Institute of Medical Technology, University
            of Tampere, Tampere FIN-33014, Finland
FEATURES             Location/Qualifiers
     source          1..2240
                     /db_xref="H-InvDB:HIT000076480"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24"
                     /cell_line="HeLa"
     gene            1..2240
                     /gene="C10orf2"
     CDS             186..2240
                     /gene="C10orf2"
                     /note="Twinkle; Twinky; alternatively spliced"
                     /codon_start=1
                     /product="putative T7-like mitochondrial DNA helicase"
                     /protein_id="AAK69558.1"
                     /translation="MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKET
                     LQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRALSPFAESSQLKGQTGVTTSFSL
                     FIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNR
                     AIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRG
                     LKLLEAKCQGDGVSYEETTIPRPSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQST
                     GLPTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKLFARKLNPKRCFLVR
                     PGDQQPRPLEALNGGFNLSRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGLRW
                     SRFPDLNRILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVR
                     LARVMLTQFAEGRLEDQLDKYDHWADRFEDLPLYFMTFHGQQSIRTVIDTMQHAVYVY
                     DICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPRKEDDDK
                     ELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNKN
                     SLTFSIPPKNKARLKKIKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKR
                     SK"
BASE COUNT          535 a          597 c          627 g          481 t
ORIGIN      
        1 tgggcatatg tgtgaagcag caacgtagag gggctgaaga ggagaaattc atggagagaa
       61 agaatgcacc tagagtgagc tctgcagagt gctgcgtggg atatccctag agtttggtct
      121 agtgaaggca cgctaaccag gcacctaagg catttcaagt agtgacttcc cacatttggc
      181 taggaatgtg ggtcctcctc cgaagtgggt accccctccg tatcttgtta cccctgcgtg
      241 gggagtggat gggtcggagg ggcctgcccc gaaacttggc cccaggccct cctcgcagac
      301 gttacaggaa ggagactctc caagccttgg atatgccagt gttgcctgta actgcaactg
      361 aaatccgcca gtatttgcgg gggcatggga tccccttcca ggatggtcac agttgcctgc
      421 gggcactgag cccctttgca gagtcttcac agctcaaagg ccagactggt gttaccactt
      481 ccttcagcct cttcattgac aagaccacag gccactttct ctgcatgacc agcctagcag
      541 aagggagctg ggaagacttc caggccagcg tggaggggcg aggggatggg gccagggagg
      601 ggtttctgct tagcaaggca ccagaatttg aggacagcga ggaggtccgg aggatctgga
      661 accgagcaat acctctctgg gagctgcctg atcaggagga ggttcagctg gctgatacaa
      721 tgtttggcct taccaaggtt acagatgaca cactcaagcg tttcagtgtg cgatatctgc
      781 gacctgctcg cagtcttgtc ttcccttggt tctcccctgg gggctcagga ttacgaggcc
      841 tgaagctcct agaggctaaa tgccaggggg atggagtgag ctacgaggaa accactattc
      901 cccgacccag cgcctaccac aatctgtttg gattaccact gattagtcgt cgagatgctg
      961 aggtggtact gacgagtcgt gagcttgaca gcctggcctt gaaccagtcc acggggctgc
     1021 ctacccttac tctaccccga ggaacgacct gcttaccccc tgccttactc ccttacctgg
     1081 aacagttccg gcggattgta ttctggttgg gggatgacct tcggtcctgg gaagccgcca
     1141 agttgtttgc acgaaaactg aaccccaaac gatgcttctt ggtgcgacca ggagaccagc
     1201 aaccccgtcc cctggaggcc ctgaacggag gcttcaatct ttctcgtatt cttcgtaccg
     1261 ccctgcctgc ctggcacaag tccatcgtat ctttccggca gcttcgggag gaggtgctag
     1321 gagaactgtc aaatgtggag caagcagctg gcctccgctg gagccgcttt ccagacctca
     1381 atcgtatctt gaagggacat cgaaagggcg agctgacggt cttcacaggg ccaacaggca
     1441 gtggaaagac gacattcatc agtgagtatg ccctggattt gtgttcccag ggggtgaaca
     1501 cactgtgggg tagcttcgag atcagcaatg tgagactagc ccgggtcatg ctgacacagt
     1561 ttgccgaggg gcggctggaa gatcaactgg acaaatatga tcactgggct gaccgctttg
     1621 aggacctgcc cctctatttc atgactttcc atggacagca aagcatcagg actgtaatag
     1681 atacaatgca acatgcagtc tacgtctatg acatttgtca tgtgatcatc gacaacctgc
     1741 agttcatgat gggtcacgag cagctgtcca cagacaggat cgcagctcaa gactacatca
     1801 tcggggtctt tcggaagttt gcaacagaca ataactgcca tgtgacactg gtcattcacc
     1861 cccggaaaga ggatgatgac aaggaactgc agacagcgtc catttttggc tcagccaaag
     1921 caagccagga agcagacaat gttctgatcc tgcaggacag gaagctggta accgggccag
     1981 ggaaacggta tctgcaggtg tccaagaacc gctttgatgg agatgtaggt gtcttcccgc
     2041 ttgagttcaa caagaactcc ctcaccttct ccattccacc aaagaacaag gcccggctca
     2101 agaagatcaa ggatgacact ggaccagtgg ccaaaaagcc ctcttctggc aaaaaggggg
     2161 ctacgacaca gaactctgag atttgctcag gccaggcccc cactcccgac cagccagaca
     2221 cctccaagcg ttcaaagtga
//