Thiamine transporter 1

Details

Name

Thiamine transporter 1

Synonyms

• Solute carrier family 19 member 2
• TC1
• Thiamine carrier 1
• THT1
• ThTr-1
• TRMA

Gene Name

SLC19A2

Organism

Humans

Amino acid sequence

>lcl|BSEQ0006803|Thiamine transporter 1
MDVPGPVSRRAAAAAATVLLRTARVRRECWFLPTALLCAYGFFASLRPSEPFLTPYLLGP
DKNLTEREVFNEIYPVWTYSYLVLLFPVFLATDYLRYKPVVLLQGLSLIVTWFMLLYAQG
LLAIQFLEFFYGIATATEIAYYSYIYSVVDLGMYQKVTSYCRSATLVGFTVGSVLGQILV
SVAGWSLFSLNVISLTCVSVAFAVAWFLPMPQKSLFFHHIPSTCQRVNGIKVQNGGIVTD
TPASNHLPGWEDIESKIPLNMEEPPVEEPEPKPDRLLVLKVLWNDFLMCYSSRPLLCWSV
WWALSTCGYFQVVNYTQGLWEKVMPSRYAAIYNGGVEAVSTLLGAVAVFAVGYIKISWST
WGEMTLSLFSLLIAAAVYIMDTVGNIWVCYASYVVFRIIYMLLITIATFQIAANLSMERY
ALVFGVNTFIALALQTLLTLIVVDASGLGLEITTQFLIYASYFALIAVVFLASGAVSVMK
KCRKLEDPQSSSQVTTS

Number of residues

497

Molecular Weight

55399.49

Theoretical pI

6.72

GO Classification

Functions

folic acid transporter activity / thiamine transmembrane transporter activity / thiamine uptake transmembrane transporter activity

Processes

drug transmembrane transport / folic acid transport / small molecule metabolic process / thiamine transmembrane transport / thiamine transport / thiamine-containing compound metabolic process / vitamin metabolic process / water-soluble vitamin metabolic process

Components

integral component of membrane / integral component of plasma membrane / plasma membrane

General Function

Thiamine uptake transmembrane transporter activity

Specific Function

High-affinity transporter for the intake of thiamine.

Pfam Domain Function

• Folate_carrier (PF01770)

Transmembrane Regions

29-46 73-91 100-118 129-149 166-185 192-208 286-310 338-354 364-380 387-409 420-443 456-479

Cellular Location

Membrane

Gene sequence

>lcl|BSEQ0012459|Thiamine transporter 1 (SLC19A2)
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

Chromosome Location

1

Locus

1q23.3

External Identifiers

Resource	Link
UniProtKB ID	O60779
UniProtKB Entry Name	S19A2_HUMAN
GenBank Protein ID	6524689
GenBank Gene ID	AF160812
HGNC ID	HGNC:10938

General References

1. 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. [Article]
2. 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. [Article]
3. 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. [Article]
4. 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. [Article]
5. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [Article]
6. Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [Article]
7. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
8. Van Damme P, Lasa M, Polevoda B, Gazquez C, Elosegui-Artola A, Kim DS, De Juan-Pardo E, Demeyer K, Hole K, Larrea E, Timmerman E, Prieto J, Arnesen T, Sherman F, Gevaert K, Aldabe R: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. Proc Natl Acad Sci U S A. 2012 Jul 31;109(31):12449-54. doi: 10.1073/pnas.1210303109. Epub 2012 Jul 18. [Article]
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. [Article]

Drug Relations

Drug Relations

DrugBank ID	Name	Drug group	Pharmacological action?	Actions	Details
DB00152	Thiamine	approved, investigational, nutraceutical, vet_approved	unknown	substrate	Details