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
//