LOCUS DQ309999 1830 bp mRNA linear HUM 27-MAR-2006 DEFINITION Homo sapiens mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase precursor transcript variant 2 mRNA, complete cds; nuclear gene for mitochondrial product. ACCESSION DQ309999 VERSION DQ309999.1 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 1830) AUTHORS Yan,Q., Bykhovskaya,Y., Li,R., Mengesha,E., Shohat,M., Estivill,X., Fischel-Ghodsian,N. and Guan,M.X. TITLE Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations JOURNAL Biochem. Biophys. Res. Commun. 342 (4), 1130-1136 (2006) PUBMED 16513084 REFERENCE 2 (bases 1 to 1830) AUTHORS Yan,Q. and Guan,M.X. TITLE Direct Submission JOURNAL Submitted (29-NOV-2005) Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA FEATURES Location/Qualifiers source 1..1830 /db_xref="H-InvDB:HIT000342628" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="22" /map="22q13" CDS 341..640 /note="TRMU; tRNA-methyltransferase" /codon_start=1 /product="mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase precursor transcript variant 2" /protein_id="ABC46691.1" /translation="MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDE HGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWNDVFRGRCHCHRSLCKNFPGR" transit_peptide 341..421 /note="putative mitochondrial target sequence" BASE COUNT 403 a 468 c 618 g 341 t ORIGIN 1 ggctgggggg cttagaattt tatttttggt ttacagcgca gaagaagagc agtgaggccg 61 gggcgcgggt ggggagggca aggcggcggc tcaaaaaaaa agccagcccc tcgcggcccg 121 acagagtctc ggcgccccgc gggtcggtgg agcctcaggg gtgagcgcag gccggagaca 181 ggggaacccg ccgcgggaca ggggaaggcc ggacggaacg cgggtaagct gccgcagctt 241 ccggccgggc cactagcgcg gaccctacgg ccggggcggg acttccggca aggcgcggaa 301 gcggcggtag ctgcagctgg cgaagttggg cgactggcgg atgcaggcct tgcggcacgt 361 cgtgtgcgcc ctgtccggcg gcgtggacag cgccgtggcc gcgctgctgc tgaggcggag 421 aggttaccag gtgacagggg tgtttatgaa gaactgggac tcactggatg aacatggggt 481 ctgtactgcc gacaaagact gtgaagatgc ttacagagtt tgccagatct tagacatccc 541 tttccatcaa gtgtcctacg taaaggagta ttggaatgat gtgttcaggg gcagatgcca 601 ttgccacagg tcactatgca agaacttccc tggaagatga agaagtcttt gagcagaagc 661 acgttaagaa gcccgaaggg cttttcagaa atcggtttga agttagaaat gcggtaaaac 721 tcctccaggc agctgacagc tttaaagacc agaccttctt tctcagccag gtttcccagg 781 atgccctgag gagaaccatc ttccctctgg ggggattaac gaaagagttt gtaaagaaaa 841 tcgctgctga gaatagactt catcatgtgc ttcagaagaa agagagcatg ggcatgtgtt 901 tcatcgggaa gaggaatttt gaacatttcc ttcttcagta tctgcagcct cgacctggtc 961 actttatttc catagaagac aataaggttc tgggaacaca taaaggttgg ttcctgtata 1021 ccttgggcca gagagcaaac ataggtggcc tgagagagcc ctggtacgtg gtggagaagg 1081 acagcgtcaa gggtgacgtg tttgtggccc cccggacaga ccacccagcc ctgtacaggg 1141 acctgctgag gaccagccgc gtgcactgga ttgcggagga gcctcccgca gcactggtcc 1201 gggacaagat gatggagtgc cacttccgat tccgccacca gatggcacta gtgccctgtg 1261 tgctgaccct caatcaagat ggcaccgtgt gggtgacagc tgtgcaggct gtgcgtgccc 1321 ttgccacagg acagtttgct gtgttctaca agggggacga gtgcctgggc agcgggaaga 1381 tcctgcggct ggggccgtct gcctacacgc tccagaaggg ccagcgcaga gctgggatgg 1441 ccactgagag ccccagtgac agcccagaag atggtccagg cctgagtccc ttgctctgac 1501 agagatggat ctgctagaag gaacctggag agcaggaccc atggctgggc ggctggtgag 1561 cagtccaggt gcccaagggc cagcttgctg ctgcccaaag cagaggaagc cgggctggct 1621 gagggtccga aaagcctgca ggggcccggc gagccccagg aagagcctca gctccaggct 1681 ggggctctgg ctgctggagc atctgctggc tggtggggtg gcccgagttc cccttcaccg 1741 cccccaggga gggtttccca cctcagagta caccgagggg acctgcagag ggggctgtcg 1801 ggacagcgtg gaataaacat tatttcaagg //