LOCUS AH006713 4487 bp DNA linear HUM 10-JUN-2016 DEFINITION Homo sapiens chromosome 19 glutaryl-CoA dehydrogenase (GCDH) gene, complete cds. ACCESSION AH006713 AF012339 AF012340 AF012341 AF012342 VERSION AH006713.2 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (sites) AUTHORS Biery,B.J., Stein,D.E., Morton,D.H. and Goodman,S.I. TITLE Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish JOURNAL Am. J. Hum. Genet. 59 (5), 1006-1011 (1996) PUBMED 8900227 REFERENCE 2 (bases 1 to 4487) AUTHORS Schwartz,M., Christensen,E., Superti-Furga,A. and Brandt,N.J. TITLE The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I JOURNAL Hum. Genet. 102 (4), 452-458 (1998) PUBMED 9600243 REFERENCE 3 (bases 1 to 4487) AUTHORS Schwartz,M. TITLE Direct Submission JOURNAL Submitted (03-JUL-1997) Department of Clinical Genetics, Molecular Genetics Laboratory, Rigshospitalet 4062, Copenhagen DK-2100, Denmark REFERENCE 4 (bases 1 to 1625) AUTHORS Schwartz,M. TITLE Direct Submission JOURNAL Submitted (21-MAY-1998) Department of Clinical Genetics, Molecular Genetics Laboratory, Rigshospitalet 4062, Copenhagen DK-2100, Denmark REMARK Nucleotide sequence updated by submitter COMMENT On or before Jun 10, 2016 this sequence version replaced AF012339.1, AF012340.1, AF012341.1, AF012342.1, AH006713.1. FEATURES Location/Qualifiers source 1..4487 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="19" /map="19p13.2" gene 1..4487 /gene="GCDH" mRNA join(1..127,219..254,561..704,844..906,1870..2040, 2207..2336,2420..2636,3122..3225,3514..3639,3911..4071, 4310..4487) /gene="GCDH" /product="glutaryl-CoA dehydrogenase" exon 1..127 /gene="GCDH" /number=1 CDS join(37..127,219..254,561..704,844..906,1870..2040, 2207..2336,2420..2636,3122..3225,3514..3639,3911..4071, 4310..4383) /gene="GCDH" /codon_start=1 /product="glutaryl-CoA dehydrogenase" /protein_id="AAC52079.1" /translation="MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKAGRTQSQLAKSS RPEFDWQDPLVLEEQLTTDEILIRDTFRTYCQERLMPRILLANRNEVFHREIISEMGE LGVLGPTIKGYGCAGVSSVAYGLLARELERVDSGYRSAMSVQSSLVMHPIYAYGSEEQ RQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPM ADLFVVWARCEDGCIRGFLLEKGMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENV LPGASSLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRMQFGVPLARNQLIQK KLADMLTEITLGLHACLQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGN GISDEYHVIRHAMNLEAVNTYEGTHDIHALILGRAITGIQAFTASK" exon 219..254 /gene="GCDH" /number=2 exon 561..704 /gene="GCDH" /number=3 exon 844..906 /gene="GCDH" /number=4 gap 1626..1725 /estimated_length=unknown exon 1870..2040 /gene="GCDH" /number=5 gap 2078..2177 /estimated_length=unknown exon 2207..2336 /gene="GCDH" /number=6 exon 2420..2636 /gene="GCDH" /number=7 exon 3122..3225 /gene="GCDH" /number=8 exon 3514..3639 /gene="GCDH" /number=9 exon 3911..4071 /gene="GCDH" /number=10 gap 4132..4231 /estimated_length=unknown exon 4310..4487 /gene="GCDH" /number=11 BASE COUNT 736 a 1180 c 1315 g 956 t ORIGIN 1 cggtcgccgt cgttgctccg ctcgctctga gagagcatgg ccctgagagg cgtctccgtg 61 cggctgctga gccgcggacc cggcctgcac gtccttcgca cgtgggtctc gtcggcggcg 121 cagaccggtc agtgtggggt cgggagtgtg gagggaagga gggaggaact gggggtttag 181 ggactttccg gggtgacttt cccgttctgt gcttgcagag aaagccggga gaacacagag 241 ccaactggct aagtgtaagg acctctggtc gcaccgtgtg tctgctgccc ctgttcagct 301 gtctgtctgc cgcaggtgga ctctgtccca gaatccgaga gctgcccgag cggggtggca 361 gggtcgtggc cagggtcaga ggcactaagg cagtgagtgc gctgtgcctg cggggccgga 421 gaaaagtcac ctgatcagtc tcgcttgcag ctcgcactag ccggggggcg atgggtgttg 481 gggggtaggg ctgatgaggg tccgagaagg gagggcacag tgatcttgcg gactggaccg 541 aggcgaattc cccttcccag cctcgcgtcc cgagtttgac tggcaggacc cgctggtgct 601 ggaggagcag ctgaccacag atgagatcct catcagggac accttccgca cctactgcca 661 ggagagactc atgcctcgca tcctgttggc caatcgcaac gaaggtgggc gggctggtgg 721 gtgccctgag actgctcctc cgcctggagc catagccacc ccacctcaag gcccctctgt 781 ccttggggct ggggcttcct gtggcctagg ctgggctgaa tttgggcact ggtccctttg 841 cagtttttca tcgggagatc atttcggaga tgggggagtt gggtgtgctg ggccccacca 901 tcaaaggtag gaacaagtat ctctccacac actgcagaac cctctgtatt ctgaaagcct 961 cttcctcctt ccctccctcc ctttcttcct tccttctctt tcttttcttt tccttttctt 1021 tcctttcttc ttccccccca acagagtctg gctctaggct gggctgaatt tgggcgttgc 1081 ccaggctgga gtgcagtggc acgatcttgg ctcactgcaa attctgcctc ccaggctcaa 1141 gcgattctcc tgcctccacc cctctagtag ctgggattac aggtatgtgc acatgctgct 1201 aattttgatt tttagtagag acagggtttc actgtgttgg ccaggctggt ctcaaactcc 1261 tgacctcagg tgatccgccc acctcagcct cctaaagtgc tgggattaca ggcatgagca 1321 ccacgttcag ccttcttttt gagatggagt ttcgctcttg ttgtccaggc tggagtgcag 1381 tgatgcaatc ttggctcact gcagcctcca cctcccgggt ttaagtgatt tatcctgcct 1441 caggctcccg agtagctggg attacaggcg tccgcaccac gcctggctaa tttttgtatt 1501 tttagtagag gtggggtttc accgtgttgg ccaggctagt ctcgaactcc tgacctcagg 1561 tgatccaccc gcctcagcct cctgattaca ggtgtgagcc accgttgccc ggcccttttc 1621 tttttnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1681 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnntgtgg agatgaaatg 1741 aataaacctc agctagggcc agcttggtgc ctgcctcctt gtgtgtcctt attcagccct 1801 gtctcttggg tcttagcatg gcagggccct gttctctatt gtcctgcttt cccctcctac 1861 taccaccagg atatggctgt gctggggttt cgtctgtggc ctatgggctc ctggcccgag 1921 agctggagcg ggtggacagt ggctacaggt cggcgatgag tgtccagtcc tccctcgtca 1981 tgcaccctat ctatgcctat ggcagcgagg aacagcggca gaagtacctg ccccagctgg 2041 gtgagtggct gcccatgggc gctggtggaa ggaagacnnn nnnnnnnnnn nnnnnnnnnn 2101 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2161 nnnnnnnnnn nnnnnnnagc cttgtgactt tgtcttgtgc ctgcagccaa gggggagctc 2221 ctgggctgct tcgggctcac agagcccaac agcggaagtg accccagcag catggagacc 2281 agagcccact acaactcatc caacaagagc tacaccctca atgggaccaa gacctggtaa 2341 gggttctggg tggtgggcag gtggtgaaca ggggcaaagg ggcactggtc agacccctca 2401 ccgactgttc catccccagg atcacgaact cgcctatggc cgatctgttt gtagtgtggg 2461 ctcggtgtga agatggctgc attcggggct tcctgctgga gaaggggatg cggggtctct 2521 cggcccccag gatccagggc aagttctcgc tgcgggcctc agccacaggc atgatcatca 2581 tggacggtgt ggaggtgcca gaggagaatg tgctccctgg tgcatccagc ctgggggtaa 2641 gtggcagcca ctttgggaat gggtgttggg tcacctgcgg atgcggcttt gtcaggcagg 2701 ctccgtgctg gggacgcggc tccctgtgcc tgtggagccc acacagtggt gattcttact 2761 cagccggact cgctgacgtg ctgaaaactg cccccatttg gtgaccgtct cgctcatccc 2821 ggctctgccg acacatgggc ctgaaccagc tcagtcattt gactcacagt gcatcttctg 2881 gcatccgtca gcctcctggc tctgagcatc gaacccagat gccaggctgg gtgggactgt 2941 gtgcaaaccg agtgagcagg caccgagctt cagtgccagg gccatctgtg atgtgaacca 3001 acaacctgag tccccctgcg tgggtggctg gggaggaggc tttccctgct tcagagttgg 3061 ttctgcatag gccctcttgg tgtctcttgg gtgggcctga ggcgccatct caaccctaca 3121 gggtcctttc ggctgcctga acaacgcccg gtacggcatc gcgtggggcg tgcttggagc 3181 ttcggagttc tgcttgcaca cagcccgcca gtacgccctc gacaggtgtg tgagggctgc 3241 agtgagattc tctgggggtg tggggcagct tgggtttcac tctctatacc atgggtgact 3301 ccccagcccc cacccaccag gcctgagttc cttgctctgg aatgaccagt gacgtccttc 3361 tgagcagctg tgggctgagt caacggcagg gccagggcaa gcttgggggc actgagcagc 3421 ctgggaaggc tcctggagca gggggcccca ggacagggac ggggtgggag agtgggcctc 3481 ccctcgctct taccctgcca ttgcccatag taggatgcag tttggtgtcc cactggccag 3541 gaaccagctg attcagaaga agctggcaga catgctcact gagattaccc tgggccttca 3601 cgcctgcctg cagctcggcc gcttgaagga ccaggacaag taggggctgt gtggtggggg 3661 cggggggatg gcagcggtgg ctggaggacc ttgtgtcttc ctggagagaa aggtcctcct 3721 gcctggtggc cctggggacc tgaaccttct gctgtccctc ttgtccttga tgggctgggc 3781 tgaggacagc ccactggtcc ctcattggga gcttggctgc atcagggaat ccccaccccg 3841 ggctaggttt gcttggagca tcgggatgcc aggatcccca gtccttgtta ccctcatgtg 3901 ccactcccag ggctgccccc gagatggttt ctctgctgaa gaggaataac tgtgggaaag 3961 ccctggacat cgcccgccag gcccgagaca tgctgggggg gaatgggatt tctgacgagt 4021 atcacgtgat ccggcacgcc atgaacctgg aggccgtgaa cacctacgaa ggtaggagct 4081 ggacctcaga gggctcactg aggcctcagt gtctggggag ggggtacagg gnnnnnnnnn 4141 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4201 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nggatacatg aaaattgatt ttaaagggaa 4261 gttgtgagct atgaaaactc caaaccgact ctgtattaat cttgtccagg tacacatgac 4321 attcacgccc tgatccttgg gagagctatc acgggaatcc aggcgttcac ggccagcaag 4381 tgagccgctc catcaggggc ccgaaactct caagcccctt tctggagtct ggagagatgc 4441 ctggctggac cgtaggagcg ctgtgctctg agcttagaaa gggaggt //