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Identification
HMDB Protein ID HMDBP02627
Secondary Accession Numbers
  • 8126
Name Thiamine transporter 1
Synonyms
  1. Solute carrier family 19 member 2
  2. TC1
  3. ThTr-1
  4. ThTr1
  5. Thiamine carrier 1
Gene Name SLC19A2
Protein Type Enzyme
Biological Properties
General Function Involved in folic acid binding
Specific Function High-affinity transporter for the intake of thiamine.
Pathways
  • Thiamine Metabolism
  • Vitamin digestion and absorption
Reactions Not Available
GO Classification
Biological Process
thiamine transmembrane transport
thiamine transport
thiamine-containing compound metabolic process
Cellular Component
plasma membrane
integral to membrane
Component
membrane
cell part
Function
active transmembrane transporter activity
binding
transmembrane transporter activity
folic acid binding
carboxylic acid binding
amino acid binding
transporter activity
secondary active transmembrane transporter activity
reduced folate carrier activity
Molecular Function
thiamine uptake transmembrane transporter activity
folic acid transporter activity
folic acid binding
reduced folate carrier activity
Process
establishment of localization
transport
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location 1
Locus 1q23.3
SNPs SLC19A2
Gene Sequence
>1494 bp
ATGGATGTGCCCGGCCCGGTGTCTCGGCGGGCGGCGGCGGCGGCGGCCACTGTGCTCCTG
CGGACCGCTCGGGTCCGTCGCGAATGCTGGTTCTTGCCGACCGCGCTGCTCTGCGCCTAC
GGCTTCTTCGCCAGCCTCAGGCCGTCCGAGCCCTTCCTGACCCCGTACCTGCTGGGGCCG
GACAAGAACCTGACCGAGAGGGAGGTCTTCAATGAAATTTATCCAGTATGGACTTACTCT
TACCTGGTGCTACTGTTTCCTGTGTTCCTTGCCACAGACTACCTCCGTTATAAACCTGTT
GTTCTACTGCAGGGGCTCAGCCTTATTGTTACATGGTTTATGCTGCTCTATGCCCAGGGA
CTGCTGGCCATTCAATTTCTAGAATTTTTTTATGGCATCGCCACAGCCACTGAAATTGCC
TATTACTCTTATATCTACAGTGTGGTGGACCTGGGCATGTACCAGAAAGTCACAAGTTAC
TGTCGAAGTGCCACTTTGGTGGGCTTTACAGTGGGCTCTGTCCTAGGGCAAATCCTTGTC
TCAGTGGCAGGCTGGTCGCTGTTCAGCCTGAATGTCATCTCTCTTACCTGTGTTTCAGTG
GCTTTTGCTGTGGCCTGGTTTTTACCTATGCCACAGAAGAGCCTCTTCTTTCACCACATT
CCTTCTACCTGCCAGAGAGTGAATGGCATCAAGGTACAAAATGGTGGCATTGTTACTGAC
ACCCCAGCTTCTAACCACCTTCCTGGCTGGGAGGACATTGAGTCAAAAATCCCTCTAAAT
ATGGAGGAGCCTCCCGTGGAGGAACCGGAACCCAAGCCAGACCGTCTCCTTGTATTGAAA
GTACTATGGAATGATTTCCTGATGTGCTACTCCTCTCGCCCTCTTCTCTGCTGGTCTGTG
TGGTGGGCCCTCTCTACCTGTGGCTATTTTCAAGTTGTGAACTACACACAGGGCCTGTGG
GAGAAAGTGATGCCTTCTCGCTATGCTGCTATCTATAATGGTGGCGTGGAGGCCGTTTCA
ACCTTACTGGGTGCTGTTGCTGTGTTTGCAGTTGGTTATATAAAAATATCCTGGTCAACT
TGGGGAGAAATGACATTATCTCTCTTTTCTCTCCTGATTGCTGCTGCAGTGTATATCATG
GACACTGTGGGTAACATTTGGGTGTGCTATGCATCCTATGTTGTCTTCAGAATCATCTAC
ATGTTACTCATCACGATAGCAACTTTTCAAATTGCTGCAAACCTCAGCATGGAACGCTAT
GCCCTAGTATTTGGTGTAAATACCTTCATTGCCCTGGCACTGCAGACGCTGCTCACTCTA
ATTGTGGTAGATGCCAGTGGCCTTGGATTAGAAATTACCACTCAGTTTTTGATCTATGCC
AGTTATTTTGCACTCATCGCTGTGGTTTTCCTGGCCAGTGGTGCAGTCAGTGTTATGAAG
AAATGTAGAAAGCTGGAAGATCCACAATCAAGTTCTCAAGTAACCACTTCATAA
Protein Properties
Number of Residues 497
Molecular Weight 55399.49
Theoretical pI 6.737
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Thiamine transporter 1
MDVPGPVSRRAAAAAATVLLRTARVRRECWFLPTALLCAYGFFASLRPSEPFLTPYLLGP
DKNLTEREVFNEIYPVWTYSYLVLLFPVFLATDYLRYKPVVLLQGLSLIVTWFMLLYAQG
LLAIQFLEFFYGIATATEIAYYSYIYSVVDLGMYQKVTSYCRSATLVGFTVGSVLGQILV
SVAGWSLFSLNVISLTCVSVAFAVAWFLPMPQKSLFFHHIPSTCQRVNGIKVQNGGIVTD
TPASNHLPGWEDIESKIPLNMEEPPVEEPEPKPDRLLVLKVLWNDFLMCYSSRPLLCWSV
WWALSTCGYFQVVNYTQGLWEKVMPSRYAAIYNGGVEAVSTLLGAVAVFAVGYIKISWST
WGEMTLSLFSLLIAAAVYIMDTVGNIWVCYASYVVFRIIYMLLITIATFQIAANLSMERY
ALVFGVNTFIALALQTLLTLIVVDASGLGLEITTQFLIYASYFALIAVVFLASGAVSVMK
KCRKLEDPQSSSQVTTS
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID O60779
UniProtKB/Swiss-Prot Entry Name S19A2_HUMAN
PDB IDs Not Available
GenBank Gene ID AF160812
GeneCard ID SLC19A2
GenAtlas ID SLC19A2
HGNC ID HGNC:10938
References
General References
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  4. Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. doi: 10.1021/ac9004309. [PubMed:19413330 ]
  5. Dutta B, Huang W, Molero M, Kekuda R, Leibach FH, Devoe LD, Ganapathy V, Prasad PD: Cloning of the human thiamine transporter, a member of the folate transporter family. J Biol Chem. 1999 Nov 5;274(45):31925-9. [PubMed:10542220 ]
  6. Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, Szargel R, McDonald L, Shalata A, Nosaka K, Gregory S, Cohen N: Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet. 1999 Jul;22(3):300-4. [PubMed:10391221 ]
  7. Fleming JC, Tartaglini E, Steinkamp MP, Schorderet DF, Cohen N, Neufeld EJ: The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nat Genet. 1999 Jul;22(3):305-8. [PubMed:10391222 ]
  8. Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD: Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet. 1999 Jul;22(3):309-12. [PubMed:10391223 ]
  9. Raz T, Labay V, Baron D, Szargel R, Anbinder Y, Barrett T, Rabl W, Viana MB, Mandel H, Baruchel A, Cayuela JM, Cohen N: The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families. Hum Mutat. 2000;16(1):37-42. [PubMed:10874303 ]