LOCUS HSU82328 2365 bp mRNA linear HUM 20-MAR-1998 DEFINITION Homo sapiens pyruvate dehydrogenase complex protein X subunit precursor (proX) mRNA, complete cds. ACCESSION U82328 VERSION U82328.1 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 2365) AUTHORS Ling,M., McEachern,G., Seyda,A., MacKay,N., Scherer,S.W., Bratinova,S., Beatty,B., Giovannucci-Uzielli,M.L. and Robinson,B.H. TITLE Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency JOURNAL Hum. Mol. Genet. 7 (3), 501-505 (1998) PUBMED 9467010 REFERENCE 2 (bases 1 to 2365) AUTHORS Ling,M. and Robinson,B.H. TITLE Direct Submission JOURNAL Submitted (16-DEC-1996) Genetics, Research Institute, Hospital for Sick Children, 555 University Avenue, Toronto, Ont. M5G 1X8, Canada FEATURES Location/Qualifiers source 1..2365 /db_xref="H-InvDB:HIT000221760" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" gene 1..2365 /gene="proX" CDS 39..1544 /gene="proX" /note="similar to the Rattus norvegicus dihydrolipoamide acetyltransferase component (E2) of pyruvate dehydrogenase complex: Swiss Prot Accession Number P08461" /codon_start=1 /product="pyruvate dehydrogenase complex protein X subunit precursor" /protein_id="AAC39661.1" /translation="MAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGRNWR WFHSTQWLRGDPIKILMPSLSPTMEEGNIVKWLKKEGEAVSAGDALCEIETDKAVVTL DASDDGILAKIVVEEGSKNIRLGSLIGLIVEEGEDWKHVEIPKDVGPPPPVSKPSEPR PSPEPQISIPVKKEHIPGTLRFRLSPAARNILEKHSLDASQGTATGPRGIFTKEDALK LVQLKQTGKITESRPTPAPTATPTAPSPLQATAGPSYPRPVIPPVSTPGQPNAVGTFT EIPASNIRRVIAKRLTESKSTVPHAYATADCDLGAVLKVRQDLVKDDIKVSVNDFIIK AAAVTLKQMPDVNVSWDGEGPKQLPFIDISVAVATDKGLLTPIIKDAAAKGIQEIADS VKALSKKARDGKLLPEEYQGGSFSISNLGMFGIDEFTAVINPPQACILAVGRFRPVLK LTEDEEGNAKLQQRQLITVTMSSDSRVVDDELATRFLKSFKANLENPIRLA" sig_peptide 39..197 /gene="proX" /function="mitochondrial targeting sequence" mat_peptide 198..1541 /gene="proX" /product="pyruvate dehydrogenase complex protein X subunit" BASE COUNT 751 a 453 c 535 g 626 t ORIGIN 1 aggctgtgct gcgggcagcc agtgagaagg ccgtcaagat ggcggcctcc tggaggctgg 61 gctgtgatcc gcggctgctg cgttatcttg tgggcttccc tggccgccga agcgtagggc 121 tggtgaaggg ggctcttggg tggtctgtaa gccgcggacg taattggaga tggtttcaca 181 gcacgcagtg gcttcggggt gatcccatta agatactaat gccatcactg tctcctacaa 241 tggaagaagg aaacattgtg aaatggctga aaaaggaagg tgaagcggtg agtgctggag 301 atgcattatg tgaaattgag actgacaaag ctgtggttac cttagatgca agtgatgatg 361 gaatcttggc caaaatcgtg gttgaagaag gaagtaaaaa tatacggcta ggttcactaa 421 ttggtttgat agtagaagaa ggagaagatt ggaaacatgt tgaaattccc aaagacgtag 481 gtcctccacc accagtttca aaaccttcag agcctcgccc ctcaccagaa ccacagattt 541 ccatccctgt caagaaggaa cacatacccg ggacactacg gttccgttta agtccagctg 601 cccgcaatat tctggaaaaa cactcactgg atgctagcca gggcacagcc actggccctc 661 gggggatatt cactaaagag gatgctctca aacttgtcca gttgaaacaa acgggcaaga 721 ttaccgagtc cagaccaact ccagccccca cagccactcc cacagcacct tcgcccctac 781 aggccacagc tggaccatct tatccccggc ctgtgatccc accagtatca actcctggac 841 aacccaatgc agtgggcaca ttcactgaaa tccccgccag caatattcga agagtcattg 901 ccaagagatt aactgaatct aaaagtactg tacctcatgc atatgctact gctgactgtg 961 accttggagc tgttttaaaa gttaggcaag atctggtcaa agatgacatt aaagtatcag 1021 taaatgattt tatcatcaag gcagcagctg ttacccttaa acaaatgcca gatgttaatg 1081 taagctggga tggagagggc ccaaagcaac tgccatttat tgacatttca gtggctgtgg 1141 caacagataa aggcttactt actccaatca taaaagatgc tgctgctaaa ggtatccagg 1201 aaattgctga ctctgtaaag gctctatcaa agaaagcaag agatggaaaa ttgttgcctg 1261 aagaatacca aggaggatct tttagtattt ccaacttggg gatgtttggc atcgacgaat 1321 ttactgcagt gattaaccct cctcaggcct gcattttggc ggttgggagg ttccgacctg 1381 tgctgaagct cactgaggat gaagagggaa atgccaaact gcagcagcgc cagctcataa 1441 cagtcacaat gtcaagtgac agtcgagtgg ttgatgacga actggcaacc aggtttctta 1501 aaagttttaa agcaaaccta gagaatccta tccgacttgc ctagtcctca aagataagaa 1561 gttggtgttc agcttagttg attcagtagt tgttaccaag aaacatatgt tataggaaaa 1621 caacttggta tttaagtatg aagtggatga aatgtttatt tatttaaggt gaaagcattt 1681 gacccagggt gtcttcatct tcaatttggg tttaatgtta tagaaataaa tgatgataaa 1741 ctctaactaa taaaggaaag agaatatttg gttactcaga tccattttta acctctggtg 1801 ctgtataaag ggaatattaa actagatgta aatcaaagta tatgtttggc tcatttgagc 1861 attttggaat atttgagaat gtatgataca tgtaaaatta aaaaaactat tagaactgta 1921 ccataattat gttgaaggta gaagtgatct tcaaagagat ggccattaac ttagcagtgg 1981 gacctcactt ttacaagcac tgctctagat atacttgaag aatttaatag gtacagaagt 2041 ttattctgga taataaataa ataaggatca cactgtatta ggggttatgg caacattatt 2101 gaatttttta tgtacataaa gccatatgtt tagggtggtt tctatctgtc ttgtttttca 2161 cttatataac actgtgaact tctaaagcaa gaggataaaa gaagcatgaa tgaaaagaat 2221 gacatttcaa aaaaatggtt caatgaaaaa ctatagctaa aatatgtaaa cctttctagg 2281 taaaccgctt gccttcatct tgagtcggaa tatatttaaa taaattgtgt tatctcttgc 2341 caaaaaaaaa aaaaaaaaaa aaaaa //