LOCUS HUMALDH2 1603 bp mRNA linear HUM 08-AUG-1995 DEFINITION Human aldehyde dehydrogenase 2 mRNA. ACCESSION K03001 VERSION K03001.1 KEYWORDS aldehyde 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 1603) AUTHORS Hsu,L.C., Tani,K., Fujiyoshi,T., Kurachi,K. and Yoshida,A. TITLE Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2 JOURNAL Proc. Natl. Acad. Sci. U.S.A. 82 (11), 3771-3775 (1985) PUBMED 2987944 COMMENT Original source text: Homo sapiens (clone: lambda-ALDH2-[21,22,36].) liver cDNA to mRNA. Reprint kindly provided by A.Yoshida 10-SEP-1985. This isozyme may be located in the mitochondria, but is encoded in the genomic (nuclear) DNA. Since no 'aataaa' sequence was found, it is thought that the sequence 'attaaa' (positions 1584-1589) may be a poly-A signal. Nucleotides 1123-1164 code for part of the protein that is similar to and has been implicated in the abnormality of the 'atypical' Oriental ALDH2 molecule, where a single substitution (position 1156, 'g' to 'a') changes a glutamic acid to a lysine, which results in a drastic reduction of enzyme activity. FEATURES Location/Qualifiers source 1..1603 /db_xref="H-InvDB:HIT000191402" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /map="12q24.2" /clone="lambda-ALDH2-[21,22,36]." /tissue_type="liver" gene 1..1603 /gene="ALDH2" mRNA <1..1603 /gene="ALDH2" /product="ALDH-2 mRNA" CDS <1..1200 /gene="ALDH2" /note="aldehyde dehydrogenase 2 (EC 1.2.1.3)" /codon_start=1 /protein_id="AAB59500.1" /db_xref="GDB:G00-119-668" /translation="LAALETLDNGKPYVISYLVDLDMVLKCLRYYAGWADKYHGKTIP IDGDFFSYTRHEPVGVCGQIIPWNFPLLMQAWKLGPALATGNVVVMKVAEQTPLTALY VANLIKEAGFPPGVVNIVPGFGPTAGAAIASHEDVDKVAFTGSTEIGRVIQVAAGSSN LKRVTLELGGKSPNIIMSDADMDWAVEQAHFALFFNQGQCCCAGSRTFVQEDIYDEFV VRSVARAKSRVVGNPFDSKTEQGPQVDETQFKKILGYINTGKQEGAKLLCGGGIAADR GYFIQPTVFGDVQDGMTIAKEEIFGPVMQILKFKTIEEVVGRANNSTYGLAAAVFTKD LDKANYLSQALQAGTVWVNCYDVFGAQSPFGGYKMSGSGRELGEYGLQAYTEVKTVTV KVPQKNS" variation 1156 /gene="ALDH2" /note="g in usual ALDH-2; a in 'atypical' ALDH-2" /replace="a" BASE COUNT 396 a 381 c 451 g 375 t ORIGIN 188 bp upstream of Sau3A site; chromosome 12q24.2. 1 ctggcggcct tggagaccct ggacaatggc aagccctatg tcatctccta cctggtggat 61 ttggacatgg tcctcaaatg tctccggtat tatgccggct gggctgataa gtaccacggg 121 aaaaccatcc ccattgacgg agacttcttc agctacacac gccatgaacc tgtgggggtg 181 tgcgggcaga tcattccgtg gaatttcccg ctcctgatgc aagcatggaa gctgggccca 241 gccttggcaa ctggaaacgt ggttgtgatg aaggtagctg agcagacacc cctcaccgcc 301 ctctatgtgg ccaacctgat caaggaggct ggctttcccc ctggtgtggt caacattgtg 361 cctggatttg gccccacggc tggggccgcc attgcctccc atgaggatgt ggacaaagtg 421 gcattcacag gctccactga gattggccgc gtaatccagg ttgctgctgg gagcagcaac 481 ctcaagagag tgaccttgga gctggggggg aagagcccca acatcatcat gtcagatgcc 541 gatatggatt gggccgtgga acaggcccac ttcgccctgt tcttcaacca gggccagtgc 601 tgctgtgccg gctcccggac cttcgtgcag gaggacatct atgatgagtt tgtggtgcgg 661 agcgttgccc gggccaagtc tcgggtggtc gggaacccct ttgatagcaa gaccgagcag 721 gggccgcagg tggatgaaac tcagtttaag aagatcctcg gctacatcaa cacggggaag 781 caagaggggg cgaagctgct gtgtggtggg ggcattgctg ctgaccgtgg ttacttcatc 841 cagcccactg tgtttggaga tgtgcaggat ggcatgacca tcgccaagga ggagatcttc 901 gggccagtga tgcagatcct gaagttcaag accatagagg aggttgttgg gagagccaac 961 aattccacgt acgggctggc cgcagctgtc ttcacaaagg atttggacaa ggccaattac 1021 ctgtcccagg ccctccaggc gggcactgtg tgggtcaact gctatgatgt gtttggagcc 1081 cagtcaccct ttggtggcta caagatgtcg gggagtggcc gggagttggg cgagtacggg 1141 ctgcaggcat acactgaagt gaaaactgtc acagtcaaag tgcctcagaa gaactcataa 1201 gaatcatgca agcttcctcc ctcagccatt gatggaaagt tcagcaagat cagcaacaaa 1261 accaagaaaa atgatccttg cgtgctgaat atctgaaaag agaaattttt cctacaaaat 1321 ctcttgggtc aagaaagttc tagaatttga attgataaac atggtgggtt ggctgagggt 1381 aagagtatat gaggaacctt ttaaacgaca acaatactgc tagctttcag gatgattttt 1441 aaaaaataga ttcaaatgtg ttatcctctc tctgaaacgc ttcctataac tcgagtttat 1501 aggggaagaa aaagctattg tttacaatta tatcaccatt aaggcaactg ctacaccctg 1561 ctttgtattc tgggctaaga ttcattaaaa actagctgct ctt //