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
//