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in human complex I deficiency: A 5 base pair duplication in the nuclear gene encoding the 18 kDa (AQDQ) subunit JOURNAL Unpublished REMARK Submitted (07-08-1997) Am.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 //