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" /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 //