LOCUS HQ205079 2724 bp DNA linear HUM 20-JAN-2011 DEFINITION Homo sapiens isolate PUS1_P01 mitochondrial tRNA pseudouridine synthase A gene, complete cds, alternatively spliced; nuclear gene for mitochondrial product. ACCESSION HQ205079 VERSION HQ205079.1 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 2724) AUTHORS Wang,W., Shen,P., Thiyagarajan,S., Lin,S., Palm,C., Horvath,R., Klopstock,T., Cutler,D., Pique,L., Schrijver,I., Davis,R.W., Mindrinos,M., Speed,T.P. and Scharfe,C. TITLE Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing JOURNAL Nucleic Acids Res. 39 (1), 44-58 (2011) PUBMED 20843780 REFERENCE 2 (bases 1 to 2724) AUTHORS Wang,W., Shen,P., Thiyagarajan,S., Lin,S., Palm,C., Horvath,R., Klopstock,T., Cutler,D., Pique,L., Schrijver,I., Davis,R.W., Mindrinos,M., Speed,T.P. and Scharfe,C. TITLE Direct Submission JOURNAL Submitted (31-AUG-2010) Biochemistry, Stanford University, 855 S California Ave, Palo Alto, CA 94304, USA FEATURES Location/Qualifiers source 1..2724 /organism="Homo sapiens" /mol_type="genomic DNA" /isolate="PUS1_P01" /db_xref="taxon:9606" mRNA join(<498..571,682..910,1047..1184,1321..1423,1560..2251, 2388..>2435) /product="mitochondrial tRNA pseudouridine synthase A" CDS join(498..571,682..910,1047..1184,1321..1423,1560..2251, 2388..2435) /note="alternatively spliced" /codon_start=1 /product="mitochondrial tRNA pseudouridine synthase A" /protein_id="ADP90520.1" /translation="MGLQLRALLGAFGRWTLRLGPRPSCSPRMAGNAEPPPAGAACPQ DRRSCSGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPKRKIVLLMAYSGKGYHGMQR NVGSSQFKTIEDDLVSALVRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKV WLIDDILEKINSHLPSHIRILGLKRVTGGFNSKNRCDARTYCYLLPTFAFAHKDRDVQ DETYRLSAETLQQVNRLLACYKGTHNFHNFTSQKGPQDPSACRYILEMYCEEPFVREG LEFAVIRVKGQSFMMHQIRKMVGLVVAIVKGYAPESVLERSWGTEKVDVPKAPGLGLV LERVHFEKYNQRFGNDGLHEPLDWAQEEGKVAAFKEEHIYPTIIGTERDERSMAQWLS TLPIHNFSATALTAGGTGAKVPSPLEGSEGDGDTD" gap 590..663 /estimated_length=74 mRNA join(<692..910,1047..1184,1321..1423,1560..2251, 2388..>2435) /product="mitochondrial tRNA pseudouridine synthase A" CDS join(692..910,1047..1184,1321..1423,1560..2251,2388..2435) /note="alternatively spliced" /codon_start=1 /product="mitochondrial tRNA pseudouridine synthase A" /protein_id="ADP90521.1" /translation="MAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLKSG GDEERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVSALVRSGCIPENH GEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRILGLKRVTG GFNSKNRCDARTYCYLLPTFAFAHKDRDVQDETYRLSAETLQQVNRLLACYKGTHNFH NFTSQKGPQDPSACRYILEMYCEEPFVREGLEFAVIRVKGQSFMMHQIRKMVGLVVAI VKGYAPESVLERSWGTEKVDVPKAPGLGLVLERVHFEKYNQRFGNDGLHEPLDWAQEE GKVAAFKEEHIYPTIIGTERDERSMAQWLSTLPIHNFSATALTAGGTGAKVPSPLEGS EGDGDTD" gap 929..1028 /estimated_length=unknown gap 1203..1302 /estimated_length=unknown gap 1442..1541 /estimated_length=unknown gap 2270..2369 /estimated_length=unknown BASE COUNT 427 a 625 c 775 g 423 t ORIGIN 1 cagtcggtcg ttccacttcc gccttcgccc acgtggtccg gctccggctc agtcagccgc 61 gtcgcgaatg gggcaggagc gagcctctct ggtcccgacg cgggtggccc gggtctcctc 121 gactcctgag gaaagcccac cgggcggggc gggaggtgaa gaggctgggg aagtcagagg 181 ttaacctggg cgtcagggga cgttggagtt gatccgtcag ggtcccgggg cggtctgggg 241 gcagtagaga cggggcttgg gcgcggggcc tgagaggtca ggggtcagca ggagtgaggc 301 tggggcgtcc aggtccgaga ggtcaggggt cagctggaga ggggctgggg cgccggtttc 361 ccggaggtca ggggtcagaa ggaacagggc tgcagcgtca gggtccgaga ggttaggggt 421 cggcagaggc ggagctgggg cactgggggt caggggtcgg ggatcagggc ggggtcgggt 481 gcactggtag cctgcgcatg ggcctccagc ttcgcgcgct gttgggagcc ttcggacggt 541 ggaccctgcg cctgggaccg cgtccgtcct ggtaatgacc gcgacgccgn nnnnnnnnnn 601 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 661 nnncgccgcc cttctccgca gctcgccgcg catggccggg aacgcggagc cgccgcccgc 721 cggagccgca tgcccccagg accggaggtc ctgcagcggc cgggccgggg gcgaccgcgt 781 ctgggaggac ggagaacatc cggcgaagaa gctcaagagc ggtggcgacg aggagcggcg 841 cgagaagccg cccaagcgga agatcgtgct gctcatggcc tattcgggca agggctacca 901 cggcatgcag gtgtggccgc ccgggaagnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 961 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1021 nnnnnnnntt tgtctccttt ttccagagga atgtcgggtc ctcacaattc aaaacaattg 1081 aagatgactt ggtgtccgcc ctcgtccggt caggctgtat tcctgaaaat catggtgagg 1141 acatgaggaa aatgtccttc cagcgctgcg cccggacaga caaggtgggt ggtggccttc 1201 tcnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1261 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nngttctgct ttgtttacag 1321 ggtgtgtccg cagccggcca ggtggtatcc ctgaaggtgt ggctgattga cgacattcta 1381 gaaaagatca acagccacct tccctctcac attcggattc tgggtaagcc ttgcagtgca 1441 gnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1501 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn ntgaccacct cccccctagg 1561 actgaagcgg gtcacgggcg ggtttaactc caagaacaga tgtgatgcca ggacctattg 1621 ctacctgctg cccacgtttg cctttgcgca caaggaccgg gacgttcagg atgagaccta 1681 ccgcctgagc gccgagacgc tgcagcaggt caacaggctc ctggcctgct acaagggcac 1741 gcacaacttc cacaatttca cctcgcagaa ggggccgcag gatcccagtg cctgccgcta 1801 catcctggag atgtactgcg aggaaccctt tgtgcgggag ggcctggagt ttgcggtgat 1861 cagggtgaag ggccagagct tcatgatgca tcagatccgg aagatggtcg gcctggtggt 1921 ggccattgtg aagggttatg cccctgagag cgtgctggag cgcagctggg gcacagagaa 1981 ggtggacgtg cccaaggcgc ccggactcgg cctggtcctg gagagggtgc acttcgagaa 2041 gtacaaccag cgctttggca acgatgggct gcatgagccg ctggactggg cgcaggagga 2101 aggaaaggtc gcagccttca aggaggagca catctacccc accatcatcg gcaccgagcg 2161 ggacgaacgc tccatggccc agtggctgag caccttgccc atccacaact tcagtgccac 2221 cgctctcacg gcaggtggca cgggcgccaa ggtaggggca cagtcccagn nnnnnnnnnn 2281 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2341 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnt gtggtcttct tctgcaggtg cccagtcccc 2401 tggaaggcag tgaaggggac ggagacactg actgaggcga tgggagctgc ccaccagagt 2461 gcctctgagc agctcacagt gtgtgcccag atgtgccacc cctgtgggca gcaagaagct 2521 gggatcgctg cagccatgtt ttcccggcca tgccggcgtt gtaacctcag gaccttccct 2581 tgtaggaaca gcctttctcg aatctgtttt cagctcttgc attgcataga tgaacctcag 2641 catgtaaaga actatttttt taaagaagtg attttcttat taaacaagta caaattttgc 2701 ttagtcaatc cttggtttgc cttt //