LOCUS       AF020351                 668 bp    mRNA    linear   HUM 02-DEC-1997
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase 18 kDa IP subunit mRNA,
            nuclear gene encoding mitochondrial protein, complete cds.
ACCESSION   AF020351
VERSION     AF020351.1
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 668)
  AUTHORS   Van Den Heuvel,L., Ruitenbeek,W., Smeets,R., Gelman-Kohan,Z.,
            Elpeleg,O., Loeffen,J., Trijbels,F., Mariman,E., De Bruijn,D. and
            Smeitink,J.
  TITLE     Demonstration of the first pathogenic mutation in human complex I
            deficiency: A 5 base pair duplication in the nuclear gene encoding
            the 18 kDa (AQDQ) subunit
  JOURNAL   Unpublished
  REMARK    Submitted (07-08-1997) Am. J. Hum. Genet.
REFERENCE   2  (bases 1 to 668)
  AUTHORS   Van Den Heuvel,L., Ruitenbeek,W., Smeets,R., Gelman-Kohan,Z.,
            Elpeleg,O., Loeffen,J., Trijbels,F., Mariman,E., De Bruijn,D. and
            Smeitink,J.
  TITLE     Direct Submission
  JOURNAL   Submitted (21-AUG-1997) Department of Pediatrics and Human
            Genetics, University Hospital Nijmegen, P.O. Box 9101, Nijmegen,
            Gelderland 6500 HB, The Netherlands
FEATURES             Location/Qualifiers
     source          1..668
                     /db_xref="H-InvDB:HIT000062512"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
     mRNA            <1..668
                     /product="NADH:ubiquinone oxidoreductase 18 kDa IP
                     subunit"
     CDS             9..536
                     /note="subunit of Mitochondrial Complex I"
                     /codon_start=1
                     /product="NADH:ubiquinone oxidoreductase 18 kDa IP
                     subunit"
                     /protein_id="AAB87865.1"
                     /translation="MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQ
                     DQTQDTQLITVDEKLDITTLTGVPEEHIKTRKVRIFVPARNNMQSGVNNTKKWKMEFD
                     TRERWENPLMGWASTADPLSNMVLTFSTKEDAVSFAEKNGWSYDIEERKVPKPKSKSY
                     GANFSWNKRTRVSTK"
     regulatory      630..635
                     /regulatory_class="polyA_signal_sequence"
     polyA_site      653
BASE COUNT          225 a          128 c          151 g          164 t
ORIGIN      
        1 gcagcaagat ggcggcggtc tcaatgtcag tggtactgag gcagacgttg tggcggagaa
       61 gggcagtggc tgtagctgcc ctttccgttt ccagggttcc gaccaggtcg ttgaggactt
      121 ccacatggag attggcacag gaccagactc aagacacaca actcataaca gttgatgaaa
      181 aattggatat cactacttta actggcgttc cagaagagca tataaaaact agaaaagtca
      241 ggatctttgt tcctgctcgc aataacatgc agtctggagt aaacaacaca aagaaatgga
      301 agatggagtt tgataccagg gagcgatggg aaaatccttt gatgggttgg gcatcaacgg
      361 ctgatccctt atccaacatg gttctaacct tcagtactaa agaagatgca gtttcctttg
      421 cagaaaaaaa tggatggagc tatgacattg aagagaggaa ggttccaaaa cccaagtcca
      481 agtcttatgg tgcaaacttt tcttggaaca aaagaacaag agtatccaca aaataggttg
      541 gcactgacta tatctctgct tgactgtgaa taaagtcagc tatgcagtat ttatagtcca
      601 tgtataataa atacatctct taatctccta ataaattgga cctttaaact acaaaaaaaa
      661 aaaaaaaa
//