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 //