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 //