LOCUS HUMKADA 1748 bp mRNA linear HUM 21-AUG-1995
DEFINITION Human branched chain alpha-keto acid dehydrogenase mRNA, 3' end.
ACCESSION J04474
VERSION J04474.1
KEYWORDS alpha-keto acid dehydrogenase.
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 1748)
AUTHORS Fisher,C.W., Chuang,J.L., Griffin,T.A., Lau,K.S., Cox,R.P. and
Chuang,D.T.
TITLE Molecular phenotypes in cultured maple syrup urine disease cells.
Complete E1 alpha cDNA sequence and mRNA and subunit contents of
the human branched chain alpha-keto acid dehydrogenase complex
JOURNAL J. Biol. Chem. 264 (6), 3448-3453 (1989)
PUBMED 2914958
REFERENCE 2 (bases 1309 to 1309)
AUTHORS Zhang,B., Edenberg,H.J., Crabb,D.W. and Harris,R.A.
TITLE Evidence for both a regulatory mutation and a structural mutation
in a family with maple syrup urine disease
JOURNAL J. Clin. Invest. 83 (4), 1425-1429 (1989)
PUBMED 2703538
COMMENT Original source text: Homo sapiens (clone: hE1alpha-[1,2,3,4])
(clone library: S.Woo and Clontech) liver cDNA to mRNA.
Draft entry and computer-readable sequence for [1] kindly provided
by C.Fisher, 29-NOV-1988.
Maple syrup urine disease is caused by a mutation at position 1297
resulting in the substitution of an asparagine for a tyrosine.
FEATURES Location/Qualifiers
source 1..1748
/db_xref="H-InvDB:HIT000191264"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/map="3q21"
/clone="hE1alpha-[1,2,3,4]"
/tissue_type="liver"
/clone_lib="S.Woo and Clontech"
gene 1..1748
/gene="BCHEL1"
CDS <1..1335
/gene="BCHEL1"
/EC_number="1.2.4.4"
/note="precursor"
/codon_start=1
/product="branched-chain alpha-keto acid dehydrogenase"
/protein_id="AAB59549.1"
/db_xref="GDB:G00-120-559"
/translation="GGAIAAARVWRLNRGLSQAALLLLRQPGARGLARAHPPRQQQQF
SSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVL
KLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREA
GVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGA
AYAAKRANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSE
QYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGH
HSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEA
FEQAERKPKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK"
sig_peptide <1..129
/gene="BCHEL1"
/note="branched chain alpha-keto acid dehydrogenase signal
peptide"
mat_peptide 130..1332
/gene="BCHEL1"
/product="branched-chain alpha-keto acid dehydrogenase"
/EC_number="1.2.4.4"
variation 740
/gene="BCHEL1"
/note="c in [1]; a in Gene 69, 159-164"
/replace="a"
variation 1218
/gene="BCHEL1"
/note="g in hE1alpha-[1,2,4]; g in hE1alpha-3"
variation 1309
/gene="BCHEL1"
/note="t in wt; a in maple syrup urine disease"
/replace="a"
variation 1603
/gene="BCHEL1"
/note="g in hE1alpha-[2,3,4]; a in hE1alpha-1"
/replace="a"
BASE COUNT 379 a 547 c 508 g 314 t
ORIGIN Chromosome 19.
1 ggcggggcga tcgctgcagc gagggtctgg cggctaaacc gtggtttgag ccaggctgcc
61 ctcctgctgc tgcggcagcc tggggctcgg ggactggcta gagcgcaccc ccccaggcag
121 cagcagcagt tttcatctct ggatgacaag ccccagttcc caggggcctc ggcggagttt
181 atagataagt tggaattcat ccagcccaac gtcatctctg gaatccccat ctaccgcgtc
241 atggaccggc aaggccagat catcaacccc agcgaggacc cccacctgcc gaaggagaag
301 gtgctgaagc tctacaagag catgacactg cttaacacca tggaccgcat cctctatgag
361 tctcagcggc agggccggat ctccttctac atgaccaact atggtgagga gggcacgcac
421 gtggggagtg ccgccgccct ggacaacacg gacctggtgt ttggccagta ccgggaggca
481 ggtgtgctga tgtatcggga ctaccccctg gaactattca tggcccagtg ctatggcaac
541 atcagtgact tgggcaaggg gcgccagatg cctgtccact acggctgcaa ggaacgccac
601 ttcgtcacta tctcctctcc actggccacg cagatccctc aggcggtggg ggcggcgtac
661 gcagccaagc gggccaatgc caacagggtc gtcatctgtt acttcggcga gggggcagcc
721 agtgaggggg acgcccatgc cggcttcaac ttcgctgcca cacttgagtg ccccatcatc
781 ttcttctgcc ggaacaatgg ctacgccatc tccacgccca cctctgagca gtatcgcggc
841 gatggcattg cagcacgagg ccccgggtat ggcatcatgt caatccgcgt ggatggtaat
901 gatgtgtttg ccgtatacaa cgccacaaag gaggcccgac ggcgggctgt ggcagagaac
961 cagccctttc tcatcgaggc catgacctac aggatcgggc accacagcac cagtgacgac
1021 agttcagcgt accgctcggt ggatgaggtc aattactggg ataaacagga ccaccccatc
1081 tcccggctgc ggcactatct gctgagccaa ggctggtggg atgaggagca ggagaaggcc
1141 tggaggaagc agtcccgcag gaaggtgatg gaggcctttg agcaggccga gcggaagccc
1201 aaacccaacc ccaacctgct cttctcagac gtgtatcagg agatgcccgc ccagctccgc
1261 aagcagcagg agtctctggc ccgccacctg cagacctacg gggagcacta cccactggat
1321 cacttcgata agtgagacct gctcagccca cccccaccca tcctcagcta ccccgagagg
1381 tagccccact ctaaggggag cagggggacc tgacagcaca ccactgtctt ccccagtcag
1441 ctccctctaa aatactcagc ggccagggcg gctgccactc ttcacccctg ctcctcccgg
1501 ctgttacatt gtcaggggac agcatctgca gcagttgctg aggctccgtc agccccctct
1561 tcacctgttg ttacagtgcc ttctcccagg ggctgggtga gggcacattc aggactagaa
1621 gcccctctgg gcatggggtg gacatggcag gtcagcctgt ggaacttgcg caggtgcgag
1681 tggccagcag aggtcacgaa taaactgcat ctctgcgcct ggctctctaa aaaaaaaaaa
1741 aaaaaaaa
//