LOCUS HSU50708 1551 bp mRNA linear HUM 08-OCT-1996
DEFINITION Human branched chain alpha-ketoacid dehydrogenase E1 beta subunit
mRNA, complete cds.
ACCESSION U50708
VERSION U50708.1
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 1551)
AUTHORS Chuang,J.L., Cox,R.P. and Chuang,D.T.
TITLE Molecular cloning of the mature E1b-beta subunit of human
branched-chain alpha-keto acid dehydrogenase complex
JOURNAL FEBS Lett. 262 (2), 305-309 (1990)
PUBMED 2335211
REFERENCE 2 (bases 1 to 1551)
AUTHORS Chuang,J.L., Cox,R.P. and Chuang,D.T.
TITLE Maple syrup urine disease: the E1beta gene of human branched-chain
alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons,
and the 3' UTR in one of the two E1beta mRNAs arises from intronic
sequences
JOURNAL Am. J. Hum. Genet. 58 (6), 1373-1377 (1996)
PUBMED 8651316
REFERENCE 3 (bases 1 to 1551)
AUTHORS Chuang,J.C., Cox,R.P. and Chuang,D.T.
TITLE Direct Submission
JOURNAL Submitted (05-MAR-1996) David T. Chuang, Biochemistry, UT
Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX
75235-9038, USA
FEATURES Location/Qualifiers
source 1..1551
/db_xref="H-InvDB:HIT000220180"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/tissue_type="placenta, lymphoblast"
CDS 48..1226
/note="similar to sequence with GenBank Accession Number
M55575"
/codon_start=1
/product="branched chain alpha-ketoacid dehydrogenase E1
beta subunit"
/protein_id="AAB16763.1"
/translation="MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVED
AAQRRQVAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGG
VFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQI
VNEAAKYRYRSGDLFNCGSLTIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSP
FQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVA
WGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLT
GGFASEISSTVQEECFLNLEAPISRVCGYDTPFPHIFEPFYIPDKWKCYDALRKMINY
"
BASE COUNT 422 a 306 c 372 g 451 t
ORIGIN
1 aggcggcgtg cggctgcata gcctgagaat cccggtggtg agcggggatg gcggttgtag
61 cggcggctgc cggctggcta ctcaggctca gggcggcagg ggctgagggg cactggcgtc
121 ggcttcctgg cgcggggctg gcgcggggct ttttgcaccc cgccgcgact gtcgaggatg
181 cggcccagag gcggcaggtg gctcatttta ctttccagcc agatccggag ccccgggagt
241 acgggcaaac tcagaaaatg aatcttttcc agtctgtaac aagtgccttg gataactcat
301 tggccaaaga tcctactgca gtaatatttg gtgaagatgt tgcctttggt ggagtcttta
361 gatgcactgt tggcttgcga gacaaatatg gaaaagatag agtttttaat accccattgt
421 gtgaacaagg aattgttgga tttggaatcg gaattgcggt cactggagct actgccattg
481 cggaaattca gtttgcagat tatattttcc ctgcatttga tcagattgtt aatgaagctg
541 ccaagtatcg ctatcgctct ggggatcttt ttaactgtgg aagcctcact atccggtccc
601 cttggggctg tgttggtcat ggggctctct atcattctca gagtcctgaa gcattttttg
661 cccattgccc aggaatcaag gtggttatac ccagaagccc tttccaggcc aaaggacttc
721 ttttgtcatg catagaggat aaaaatcctt gtatattttt tgaacctaaa atactttaca
781 gggcagcagc ggaagaagtc cctatagaac catacaacat cccactgtcc caggccgaag
841 tcatacagga agggagtgat gttactctag ttgcctgggg cactcaggtt catgtgatcc
901 gagaggtagc ttccatggca aaagaaaagc ttggagtgtc ttgtgaagtc attgatctga
961 ggactataat accttgggat gtggacacaa tttgtaagtc tgtgatcaaa acagggcgac
1021 tgctaatcag tcacgaggct cccttgacag gcggctttgc atcggaaatc agctctacag
1081 ttcaggagga atgtttcttg aacctagagg ctcctatatc aagagtatgt ggttatgaca
1141 caccatttcc tcacattttt gaaccattct acatcccaga caaatggaag tgttatgatg
1201 cccttcgaaa aatgatcaac tattgaccat atagaaaagc ggaagattat gactagatat
1261 ggaaatattt tttctgaatt tttttttata tttcctccga cttacctctt tttgaaaaga
1321 gagtttttat taaatgaacc atcatgatat tggctgaaaa gttctacatt ctattattgt
1381 attgtaacac acatgtattg atgattttca ttaagagttt cagtttaact ttgaaaaata
1441 ttccacatgg taatcttata aattctgttt aattacatct gtaaatatta tgtgtgtgat
1501 agtattcaat aaagtaaaat caaattgtca aaaaaaaaaa aaaaaaaaaa a
//