LOCUS       AAD45985.1               497 aa    PRT              HUM 31-JUL-1999
DEFINITION  Homo sapiens high affinity thiamine transporter protein.
ACCESSION   AF135488-1
PROTEIN_ID  AAD45985.1
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             Qualifiers
     source          /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"
     protein         /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"
BEGIN
        1 MDVPGPVSRR AAAAAATVLL RTARVRRECW FLPTALLCAY GFFASLRPSE PFLTPYLLGP
       61 DKNLTEREVF NEIYPVWTYS YLVLLFPVFL ATDYLRYKPV VLLQGLSLIV TWFMLLYAQG
      121 LLAIQFLEFF YGIATATEIA YYSYIYSVVD LGMYQKVTSY CRSATLVGFT VGSVLGQILV
      181 SVAGWSLFSL NVISLTCVSV AFAVAWFLPM PQKSLFFHHI PSTCQRVNGI KVQNGGIVTD
      241 TPASNHLPGW EDIESKIPLN MEEPPVEEPE PKPDRLLVLK VLWNDFLMCY SSRPLLCWSV
      301 WWALSTCGYF QVVNYTQGLW EKVMPSRYAA IYNGGVEAVS TLLGAVAVFA VGYIKISWST
      361 WGEMTLSLFS LLIAAAVYIM DTVGNIWVCY ASYVVFRIIY MLLITIATFQ IAANLSMERY
      421 ALVFGVNTFI ALALQTLLTL IVVDASGLGL EITTQFLIYA SYFALIAVVF LASGAVSVMK
      481 KCRKLEDPQS SSQVTTS
//