LOCUS DQ309998 1775 bp mRNA linear HUM 27-MAR-2006
DEFINITION Homo sapiens mitochondrial
5-methylaminomethyl-2-thiouridylate-methyltransferase precursor
transcript variant 1 mRNA, complete cds; nuclear gene for
mitochondrial product.
ACCESSION DQ309998
VERSION DQ309998.1
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 1775)
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 1775)
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..1775
/db_xref="H-InvDB:HIT000342627"
/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 1"
/protein_id="ABC46690.1"
/translation="MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDE
HGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWNDVFRGRCHCHRSLCKNFPGR"
transit_peptide 341..421
/note="putative mitochondrial target sequence"
BASE COUNT 388 a 451 c 608 g 328 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 gccaggtttc
721 ccaggatgcc ctgaggagaa ccatcttccc tctgggggga ttaacgaaag agtttgtaaa
781 gaaaatcgct gctgagaata gacttcatca tgtgcttcag aagaaagaga gcatgggcat
841 gtgtttcatc gggaagagga attttgaaca tttccttctt cagtatctgc agcctcgacc
901 tggtcacttt atttccatag aagacaataa ggttctggga acacataaag gttggttcct
961 gtataccttg ggccagagag caaacatagg tggcctgaga gagccctggt acgtggtgga
1021 gaaggacagc gtcaagggtg acgtgtttgt ggccccccgg acagaccacc cagccctgta
1081 cagggacctg ctgaggacca gccgcgtgca ctggattgcg gaggagcctc ccgcagcact
1141 ggtccgggac aagatgatgg agtgccactt ccgattccgc caccagatgg cactagtgcc
1201 ctgtgtgctg accctcaatc aagatggcac cgtgtgggtg acagctgtgc aggctgtgcg
1261 tgcccttgcc acaggacagt ttgctgtgtt ctacaagggg gacgagtgcc tgggcagcgg
1321 gaagatcctg cggctggggc cgtctgccta cacgctccag aagggccagc gcagagctgg
1381 gatggccact gagagcccca gtgacagccc agaagatggt ccaggcctga gtcccttgct
1441 ctgacagaga tggatctgct agaaggaacc tggagagcag gacccatggc tgggcggctg
1501 gtgagcagtc caggtgccca agggccagct tgctgctgcc caaagcagag gaagccgggc
1561 tggctgaggg tccgaaaagc ctgcaggggc ccggcgagcc ccaggaagag cctcagctcc
1621 aggctggggc tctggctgct ggagcatctg ctggctggtg gggtggcccg agttcccctt
1681 caccgccccc agggagggtt tcccacctca gagtacaccg aggggacctg cagagggggc
1741 tgtcgggaca gcgtggaata aacattattt caagg
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