From: GenBank-Updates@genbank.bio.net
Newsgroups: bionet.molbio.genbank.updates
Subject: Human gene for branched chain alpha-keto acid dehydrogenase (EC
Date: 20 Aug 92 10:02:17 GMT
Distribution: bionet
Checksum: 03626     4

LOCUS       HUMBCKD10     804 bp ds-DNA             PRI       20-AUG-1992
DEFINITION  Human gene for branched chain alpha-keto acid dehydrogenase (EC
            1.2.4.4) E-1-beta subunit, exon 10 and 3' flanking region.
ACCESSION   D90391
KEYWORDS    branched chain alpha-keto acid dehydrogenase;
            maple syrup urine disease.
SEGMENT     10 of 10
SOURCE      Human adult peripheral blood, white blood cell DNA.
  ORGANISM  Homo sapiens
            Eukaryota; Animalia; Chordata; Vertebrata; Mammalia; Theria;
            Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE   1  (bases 16 to 312)
  AUTHORS   Matsuda,I., Asaka,J., Akaboshi,I., Endo,F., Mitsubuchi,H. and
            Nobukuni,Y.
  TITLE     Maple syrup urine disease: Complete primary structure of the
            E-1-beta subunit of human branched chain alpha-ketoacid
            dehydrogenase complex deduced from the nucleotide sequence and a
            gene analysis of patients with this disease
  JOURNAL   J. Clin. Invest. 86, 242-247 (1990)
  STANDARD  simple staff_review
REFERENCE   2  (bases 1 to 804)
  AUTHORS   Mitsubuchi,H., Nobukuni,Y., Endo,F. and Matsuda,I.
  TITLE     Structural organization and chromosomal localization of the gene
            for the E-1-beta subunit of human branched chain alpha-keto acid
            dehydrogenase
  JOURNAL   Unpublished (1991)
  STANDARD  full staff_review
COMMENT     These data kindly submitted in computer readable form by:
            Hiroshi Mitsubuchi
            Department of Pediatrics
            Kumamoto University Medical School
            1-1-1 Honjo, Kumamoto 860
            Japan
            Phone:  096-344-2111 x5654
            Fax:    096-366-3471
FEATURES             Location/Qualifiers
     intron          <1..15
                     /note="intron 9"
     CDS             join(D90382:642..837,D90383:16..93,D90384:16..84,
                     D90385:16..149,D90386:16..171,D90387:16..124,
                     D90388:16..113,D90389:16..126,D90390:16..102,16..156)
                     /product="E-1-beta subunit"
                     /codon_start=1
                     /translation="MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVED
                     AAQRRQVAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGG
                     VFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQI
                     VNEAAKYRYRSGDLFNCGSLTIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSP
                     FQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVA
                     WGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLT
                     GGFASEISSTVQEECFLNLEAPISRVCGYDTPFPHIFEPFYIPDKWKCYDALRKMINY
                     "
     exon            16..314
                     /number=10
                     /note="E-1-beta subunit"
     polyA_signal    300..305
BASE COUNT      207 a    177 c    168 g    252 t
ORIGIN      Chromosome 6.
        1 tgactctgtc tgcaggagga atgtttcttg aacctagagg ctcctatatc aagagtatgt
       61 ggttatgaca caccatttcc tcacattttt gaaccattct acatcccaga caaatggaag
      121 tgttatgatg cccttcgaaa aatgatcaac tattgaccat ataggtaggt atgcatcttg
      181 agaaagctac tatgtgcccc tgacattaac gtactgttaa ccaagacaca gcaatcatca
      241 gtgttttgat ggtaacaaac tttgatggta aagttgataa aaggcaactt tcagaagaaa
      301 ataatgtgct ttagaaaaaa aattcaaatt tatagtagta tatttacatt tttgttgttg
      361 ttgttgttct gagatggagt ctcactctgt cacccaggct ggactgcagt ggtgcaatct
      421 cagctcactg caacctcccc cctacccctg agttcaagcg attctcctgc ctcagcctgc
      481 tgagtagttg ggattacagg cgcccaccac catgcccagc taatttttgt gtttttattg
      541 gaggtggggt ttcactatgt tggctcggct gatttcaaat tcctgacctc aagtgatcca
      601 cctgccttag cctcccaaag tgctgggatt acaggcatga gccactgcac ctggctatat
      661 ttacatttaa tagaaacata tctagcatat gtatatgtga tttttttttt tttttttgag
      721 accgagtctc actctgtcac caggctggag gtgccagtgg tgcgatgttg gcaacctctg
      781 ccttcaggtc aagcgatgtc ctgc
//