LOCUS AF112968 2640 bp mRNA linear HUM 22-JUL-1999
DEFINITION Homo sapiens ornithine transporter (ORNT1) mRNA, complete cds;
nuclear gene for mitochondrial product.
ACCESSION AF112968
VERSION AF112968.1
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 2640)
AUTHORS Camacho,J.A., Obie,C., Biery,B., Goodman,B.K., Hu,C.A.,
Almashanu,S., Steel,G., Casey,R., Lambert,M., Mitchell,G.A. and
Valle,D.
TITLE Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is
caused by mutations in a gene encoding a mitochondrial ornithine
transporter
JOURNAL Nat. Genet. 22 (2), 151-158 (1999)
PUBMED 10369256
REFERENCE 2 (bases 1 to 2640)
AUTHORS Camacho,J.A., Hu,A. and Valle,D.
TITLE Direct Submission
JOURNAL Submitted (10-DEC-1998) Human Genetics, Johns Hopkins University,
725 North Wolfe Street, PCTB 804, Baltimore, MD 21205, USA
FEATURES Location/Qualifiers
source 1..2640
/db_xref="H-InvDB:HIT000069738"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="13"
/map="13q14.1"
gene 1..2640
/gene="ORNT1"
CDS 160..1065
/gene="ORNT1"
/function="ornithine transport across inner mitochondrial
membrane, from the cytoplasm to the matrix"
/codon_start=1
/product="ornithine transporter"
/protein_id="AAD45238.1"
/translation="MKSNPAIQAAIDLTAGAAGGTACVLTGQPFDTMKVKMQTFPDLY
RGLTDCCLKTYSQVGFRGFYKGTSPALIANIAENSVLFMCYGFCQQVVRKVAGLDKQA
KLSDLQNAAAGSFASAFAALVLCPTELVKCRLQTMYEMETSGKIAKSQNTVWSVIKSI
LRKDGPLGFYHGLSSTLLREVPGYFFFFGGYELSRSFFASGRSKDELGPVPLMLSGGV
GGICLWLAVYPVDCIKSRIQVLSMSGKQAGFIRTFINVVKNEGITALYSGLKPTMIRA
FPANGALFLAYEYSRKLMMNQLEAY"
BASE COUNT 692 a 579 c 635 g 734 t
ORIGIN
1 cttggcacga ggctttgtgc cacagccggc gacccggagc cgagagcggg cggcggagcc
61 tgagctggac gcggccacgc cggcgcggcg ggatatgtgg tgcctgtcat aagctccaga
121 gagctgcctt ccacaagacc agcagaagag tgggcaaaca tgaaatccaa tcctgctatc
181 caggctgcca ttgacctcac agcgggggct gcaggaggta cagcatgtgt actgaccggg
241 cagccctttg acacaatgaa agtgaagatg cagacgttcc ctgacctgta ccggggcctc
301 accgactgct gcctgaagac ttactcccag gtgggcttcc gtggcttcta caagggtacc
361 agtccagcac taatcgccaa catcgctgag aactcagtcc tcttcatgtg ctacggcttc
421 tgccagcagg tggtgcggaa agtggctgga ttggacaagc aggcaaagct gagtgatctg
481 cagaatgcag ccgccggttc cttcgcctct gcctttgctg cactggtgct ctgccccacg
541 gagctcgtga agtgccggct gcagaccatg tatgagatgg agacatcagg gaagatagcc
601 aagagccaga atacagtgtg gtctgtcatc aaaagtattc ttaggaaaga tggccccttg
661 gggttctacc atggactctc aagcacttta cttcgagaag taccaggcta tttcttcttc
721 ttcggtggct atgaactgag ccggtccttt tttgcatcag ggagatcaaa agatgaatta
781 ggccctgtac ctttgatgtt aagtggtgga gttggtggga tttgcctctg gcttgcggta
841 tacccagtgg attgtatcaa atccagaatt caagttcttt ccatgtctgg aaaacaggca
901 ggatttatca gaacctttat aaatgttgtg aaaaatgaag gaataacggc cttatattct
961 ggactgaaac ctactatgat tcgagcattc cctgccaatg gagcactctt tttggcctac
1021 gaatatagca ggaagttgat gatgaaccag ttggaagcat actgaagtgt cttggtgggc
1081 ctgagccaag cacaggtgtt tgaggactac agttcatctc agggtttctt ggagtacaag
1141 accagtgtga agttattctg atttcttggg aattttgctt tttgtcttcc cttctaccct
1201 acatcttaaa ctttatggaa gaacctctat tttgcatcat atcatttctg tccataattg
1261 tactgaaata gaaaagtgac cgctcttgct cttggtaaaa tatagagtgg tcagtagcct
1321 tatgcaccta attcaaaagg tggaatatag ttctgtcagg gcttttacgt aaacctccac
1381 ttgtacatgc aatttggaca gttatgtgtt gagggaaata cagtttggta ccttgtttat
1441 ttcaaatatc agaaaaaccc agaggtgatc atttctcatg aagatgctta taaatggttg
1501 cttaaccctt ctagatgtag ggtctgctta atgtgtgtac ttttctaagt ggtggcacgt
1561 gcctgtagtc ccagctactc aggaggctga ggcaggagaa tcgcttgaac ccgggaggca
1621 gaagttgcag tgaactgaaa ttgtgccact gcactccaga ctgggtgaca cagcgagact
1681 tcatctcaaa aaaaaaaaga aaagcaattg tacttaacta tgccatatgt agtatgtatt
1741 cactgaccaa aaattcactg accaaccaac caaactccac acttcatctg atcccccata
1801 gacttgggga tggacagctg ttctttggcc atatggtata agaggatcat tcttgtcact
1861 acttaagtta gcctcatcat tttgtgctgc tccaacacca gcagggtatc tcccaataaa
1921 gtgttcctaa gcagcctgta tactgagtgc aagcaggcta acaattttaa taatagtcca
1981 taccatgtat gtgtttctgt cagcagaatg tacatgttgt acaaaacctc caggttcctt
2041 aagctttttg ctgtccatga atcctctgtg gcaactgtaa tcacagagcc agaagccaga
2101 gggccaggga tatgagaggc tgacaaacat caggggacat ctggggagga gatccctgtc
2161 atgtctcttg tgccatggag ctattatggc tggtcttcca tttgcttttt ctttaagtga
2221 aaaccatttt tctactttgc ttttctctcc atacttaaat ggtcagtagc tactgagtgg
2281 tgctttatct gaataggcct ggatcgaagt aaaatagaaa tgggactggc tttccacagg
2341 aagtaaactg cttcagagcc cacagtcccc tgctcagtgt ccggaaagaa gtcagtcatc
2401 cctgttggca gtaaatcttc ccacaggccg tccattagag atttaactag atatgttcaa
2461 tagaaagagt ctgaggcaag tggaaatgag gaacggaaac ttaggttggg agaatatttt
2521 ttttttattc attctgtttg cttaattcag agtacagttt gtgctatttc atatctgtac
2581 tccaggcaga aatataactt gaaaatactg tgtctaaaga aatttcagtg gtctatcatt
//