LOCUS       AF135488                3572 bp    mRNA    linear   HUM 31-JUL-1999
DEFINITION  Homo sapiens high affinity thiamine transporter mRNA, complete cds.
ACCESSION   AF135488
VERSION     AF135488.1
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 3572)
  AUTHORS   Fleming,J.C., Tartaglini,E., Steinkamp,M.P., Schorderet,D.F.,
            Cohen,N. and Neufeld,E.J.
  TITLE     The gene mutated in thiamine-responsive anaemia with diabetes and
            deafness (TRMA) encodes a functional thiamine transporter
  JOURNAL   Nat. Genet. 22 (3), 305-308 (1999)
   PUBMED   10391222
REFERENCE   2  (bases 1 to 3572)
  AUTHORS   Fleming,J.C., Steinkamp,M.P. and Neufeld,E.J.
  TITLE     Direct Submission
  JOURNAL   Submitted (17-MAR-1999) Hematology, Children's Hospital/Harvard
            Medical School, 300 Longwood Ave., Boston, MA 02115, USA
FEATURES             Location/Qualifiers
     source          1..3572
                     /db_xref="H-InvDB:HIT000071046"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
                     /tissue_type="skeletal muscle"
                     /note="library probed with IMAGE clone number 648356"
     gene            1..3572
                     /gene="SLC19A2"
     5'UTR           1..160
                     /gene="SLC19A2"
     CDS             161..1654
                     /gene="SLC19A2"
                     /note="thiamine transporter 1 (ThTr1); defective in TRMA;
                     transcriptional start site elucidated from independent
                     clone from screen of human skeletal muscle cDNA library;
                     similar to reduced folate carrier protein encoded by
                     GenBank Accession Number AL021068"
                     /codon_start=1
                     /product="high affinity thiamine transporter"
                     /protein_id="AAD45985.1"
                     /db_xref="GI:5668620"
                     /translation="MDVPGPVSRRAAAAAATVLLRTARVRRECWFLPTALLCAYGFFA
                     SLRPSEPFLTPYLLGPDKNLTEREVFNEIYPVWTYSYLVLLFPVFLATDYLRYKPVVL
                     LQGLSLIVTWFMLLYAQGLLAIQFLEFFYGIATATEIAYYSYIYSVVDLGMYQKVTSY
                     CRSATLVGFTVGSVLGQILVSVAGWSLFSLNVISLTCVSVAFAVAWFLPMPQKSLFFH
                     HIPSTCQRVNGIKVQNGGIVTDTPASNHLPGWEDIESKIPLNMEEPPVEEPEPKPDRL
                     LVLKVLWNDFLMCYSSRPLLCWSVWWALSTCGYFQVVNYTQGLWEKVMPSRYAAIYNG
                     GVEAVSTLLGAVAVFAVGYIKISWSTWGEMTLSLFSLLIAAAVYIMDTVGNIWVCYAS
                     YVVFRIIYMLLITIATFQIAANLSMERYALVFGVNTFIALALQTLLTLIVVDASGLGL
                     EITTQFLIYASYFALIAVVFLASGAVSVMKKCRKLEDPQSSSQVTTS"
     3'UTR           1655..3572
                     /gene="SLC19A2"
BASE COUNT          918 a          704 c          763 g         1187 t
ORIGIN      
        1 aagctggggg ttctgtagcc ggaggcggcg gcgagtccag aacgtcctgg ccttacaggg
       61 agaaggcgtc actcgcggtt acaagtgcct gaccctcact ccagttggcg gaggaggaga
      121 aggaaggggc cgggccgggt cccctcccct cgcgccccgg atggatgtgc ccggcccggt
      181 gtctcggcgg gcggcggcgg cggcggccac tgtgctcctg cggaccgctc gggtccgtcg
      241 cgaatgctgg ttcttgccga ccgcgctgct ctgcgcctac ggcttcttcg ccagcctcag
      301 gccgtccgag cccttcctga ccccgtacct gctggggccg gacaagaacc tgaccgagag
      361 ggaggtcttc aatgaaattt atccagtatg gacttactct tacctggtgc tactgtttcc
      421 tgtgttcctt gccacagact acctccgtta taaacctgtt gttctactgc aggggctcag
      481 ccttattgtt acatggttta tgctgctcta tgcccaggga ctgctggcca ttcaatttct
      541 agaatttttt tatggcatcg ccacagccac tgaaattgcc tattactctt atatctacag
      601 tgtggtggac ctgggcatgt accagaaagt cacaagttac tgtcgaagtg ccactttggt
      661 gggctttaca gtgggctctg tcctagggca aatccttgtc tcagtggcag gctggtcgct
      721 gttcagcctg aatgtcatct ctcttacctg tgtttcagtg gcttttgctg tggcctggtt
      781 tttacctatg ccacagaaga gcctcttctt tcaccacatt ccttctacct gccagagagt
      841 gaatggcatc aaggtacaaa atggtggcat tgttactgac accccagctt ctaaccacct
      901 tcctggctgg gaggacattg agtcaaaaat ccctctaaat atggaggagc ctcccgtgga
      961 ggaaccggaa cccaagccag accgtctcct tgtattgaaa gtactatgga atgatttcct
     1021 gatgtgctac tcctctcgcc ctcttctctg ctggtctgtg tggtgggccc tctctacctg
     1081 tggctatttt caagttgtga actacacaca gggcctgtgg gagaaagtga tgccttctcg
     1141 ctatgctgct atctataatg gtggcgtgga ggccgtttca accttactgg gtgctgttgc
     1201 tgtgtttgca gttggttata taaaaatatc ctggtcaact tggggagaaa tgacattatc
     1261 tctcttttct ctcctgattg ctgctgcagt gtatatcatg gacactgtgg gtaacatttg
     1321 ggtgtgctat gcatcctatg ttgtcttcag aatcatctac atgttactca tcacgatagc
     1381 aacttttcaa attgctgcaa acctcagcat ggaacgctat gccctagtat ttggtgtaaa
     1441 taccttcatt gccctggcac tgcagacgct gctcactcta attgtggtag atgccagtgg
     1501 ccttggatta gaaattacca ctcagttttt gatctatgcc agttattttg cactcatcgc
     1561 tgtggttttc ctggccagtg gtgcagtcag tgttatgaag aaatgtagaa agctggaaga
     1621 tccacaatca agttctcaag taaccacttc ataatatact gctgaagggc ttcttcttat
     1681 agcaagaact ctgcacagca actgcctgga tgtgtttgat tttttaaagc gtagacatat
     1741 atttatgaat gtgcatttct tgacttcaca gcagccactt gactaatacc ttgtgttccg
     1801 ggaataacat gatactattc agaggagcca gaagtaaagt ttatttcatg gattatttat
     1861 gagagctaat ttaaggatga ctttttttct gattcaaaag tgaacttgat tttaaaaacc
     1921 agtcaagagc aatcaaagca gcacatggtg ttgtatactt cattagcaag tgagtttggt
     1981 gttttatagg tcacatatgt ctgtatctac ttagccagat gcttggcctg gtgggaccag
     2041 ggctccacag aggccacaaa atgttgcaag tcatgatgga tggaaatatg ttctaacagc
     2101 atctgcctct attcaattta attcttattt ctgtgttact catgtacatt ggtctttcta
     2161 catagttatt ctatcactgg caatatttgt tctggtttag tgttctgtat tttaaggtgt
     2221 acgtatcatt tctaatttta agttatttta aaaaaattca tcatatgaat gttcttggtt
     2281 cccattgtga cgattattta tttctgtaaa atttgtttag aagtacgttt ttgcattatt
     2341 catatgcttc ccagagaagc tcatttagtt agaaaataag gcaagttttg aagcctgcta
     2401 aatgaagaga cttaagaaag cttaaggtac gcttgcttgt ctttaaatct tcaatatgaa
     2461 ggactattaa ttccaagatt aaaagttcat atataggcta aagatgtaac taggccattt
     2521 gtatttgtat tcccttttat ttccaaaata aaatgaaaaa tcttttttta ataatttcat
     2581 ccctatttat agtttttata ttaatttgtt tttcttatcc aagtaaagat gtcaatagga
     2641 attgcattag tccaaggcct ttttcataaa ctgagcctct tttcaattat ttcaatggga
     2701 caggaactag gatagatgtg attcctgcat ttttttacct taaatctgcc tttgtttcta
     2761 aaggtagatc atcttgaata tttgcttaaa attgctagtg atttcattac caagttactt
     2821 gaaaaaatgt tctatatgca tttaattctg aaatcagtct accaaggggc tgctagtata
     2881 tgtcagacat gaaaactatt ttaaagctga ctttgttgcc ttatcttgaa aagaatctag
     2941 ataggtgctt ttaactgggg tattaacttt tttagaatga cacagctgaa cagtgttaat
     3001 aatagtgtgt caagattgca aagtcgacat actcatttgg tttaagcagg aatcctagaa
     3061 gcaaatggat ggggataaga ataggtcatt ttctattcac catcctttac tattaaggga
     3121 aaggaaaaga acactagcta aggaagggaa agggaagtga tatcataaaa gtagcaacct
     3181 tcattttaca ttctgtctgt ttttcttttt ttgctttgtt ttgtttgtgc taatttggga
     3241 attgtgtact ccgaaacaag tagaaaagtg ctgtttgagg gattttatta aatctttttt
     3301 taatggaatg tggtacaaat tgttcatgtt accaaagcaa tatttccctg gaatttaatt
     3361 caaagtttgt ggcatacaac ctgagccttt tcttatataa gacaagaata tgttcacatc
     3421 ttggtatgtg gccatattta tagaatgctg aactcaatgt gcaagttgta ctgtatgcag
     3481 ttttgtaaat aagtgaaaat aatttgttgt actttttatt caattctgta tagattataa
     3541 aattattttt attaaataaa tattttacag ta
//