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Thiamine transporter 1

From Wikipedia, the free encyclopedia
Mammalian protein found in Homo sapiens
SLC19A2
Identifiers
AliasesSLC19A2, TC1, THMD1, THT1, THTR1, TRMA, solute carrier family 19 member 2
External IDsOMIM:603941;MGI:1928761;HomoloGene:38258;GeneCards:SLC19A2;OMA:SLC19A2 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for SLC19A2
Genomic location for SLC19A2
Band1q24.2Start169,463,909bp[1]
End169,485,944bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for SLC19A2
Genomic location for SLC19A2
Band1 H2.2|1 71.56 cMStart164,076,615bp[2]
End164,092,954bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • secondary oocyte

  • gastrocnemius muscle

  • tibialis anterior muscle

  • Skeletal muscle tissue of rectus abdominis

  • biceps brachii

  • deltoid muscle

  • muscle of thigh

  • gastric mucosa

  • buccal mucosa cell

  • body of tongue
Top expressed in
  • retinal pigment epithelium

  • left lobe of liver

  • facial motor nucleus

  • medullary collecting duct

  • cornea

  • endothelial cell of lymphatic vessel

  • interventricular septum

  • motor neuron

  • cumulus cell

  • spermatocyte
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

10560

116914

Ensembl

ENSG00000117479

ENSMUSG00000040918

UniProt

O60779

Q9EQN9

RefSeq (mRNA)

NM_006996
NM_001319667

NM_001276455
NM_054087

RefSeq (protein)

NP_001306596
NP_008927

NP_001263384
NP_473428

Location (UCSC)Chr 1: 169.46 – 169.49 MbChr 1: 164.08 – 164.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Thiamine transporter 1, also known asthiamine carrier 1 (TC1) orsolute carrier family 19 member 2 (SLC19A2) is aprotein that in humans is encoded by theSLC19A2gene.[5] SLC19A2 is athiaminetransporter.Mutations in this gene causethiamine-responsive megaloblastic anemia syndrome (TRMA), which is anautosomal recessive disorder characterized bydiabetes mellitus,megaloblastic anemia andsensorineural deafness.[6][7][8]

Structure

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TheSLC19A2 gene is located on the q arm ofchromosome 1 in position 24.2 and spans 22,062 base pairs.[7] The gene produces a 55.4 kDa protein composed of 497amino acids.[9][10] In the encoded protein (TC1), amulti-passmembrane protein located in thecell membrane, theN-terminus andC-terminus face thecytosol.[11][12] This gene has 6exons while the protein has 12putativetransmembrane domains, with 3phosphorylation sites in putative intracellular domains, 2N-glycolysation sites in putative extracellular domains, and a 17-amino acid longG protein-coupled receptor signature sequence. The thiamine transporter protein encoded bySLC19A2 has a 40%shared amino acid identity with thefolate transporterSLC19A1.[13] The N-terminal domain and the sequence between the C-terminal domain and sixth transmembrane domain are required for properlocalization of this protein to the cell membrane.[14][15]

Function

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The encoded protein is a high-affinity transporterspecific to the intake of thiamine.[11][12] Thiamine transport is notinhibited by other organic cations nor affected bysodium ion concentration; it is stimulated by aproton gradient directed outward, with an optimalpH between 8.0 and 8.5.[13] TC1 istransported to the cell membrane by intracellularvesicles viamicrotubules.[14][15]

Clinical significance

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Mutations in theSLC19A2 gene can cause thiamine-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness.Onset is typically betweeninfancy andadolescence, but all of the cardinal findings are often not present initially. Theanemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features includeoptic atrophy,congenital heart defects, short stature, andstroke.[11][12]

A 3.8 kbtranscript isexpressed variably in most tissues, highest inskeletal andcardiac muscle, followed by medium expressionplacenta,heart,liver,kidney cells and low expression inlung cells. Inmelanocytic cellsSLC19A2gene expression may beregulated byMITF.[16]

Interactions

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This proteininteracts withCERS2.[17]

References

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  1. ^abcGRCh38: Ensembl release 89: ENSG00000117479 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000040918 –Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Fauré S, Barrett T, Buist N, Cohen N (December 1997)."Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping".American Journal of Human Genetics.61 (6):1335–41.doi:10.1086/301642.PMC 1716091.PMID 9399900.
  6. ^Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F (October 2010). "Thiamine-responsive megaloblastic anemia syndrome".International Journal of Hematology.92 (3):524–6.doi:10.1007/s12185-010-0681-y.PMID 20835854.S2CID 21487938.
  7. ^ab"Entrez Gene: solute carrier family 19 (thiamine transporter)".Public Domain This article incorporates text from this source, which is in thepublic domain.
  8. ^Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, Szargel R, McDonald L, Shalata A, Nosaka K, Gregory S, Cohen N (July 1999). "Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness".Nature Genetics.22 (3):300–4.doi:10.1038/10372.PMID 10391221.S2CID 26615141.
  9. ^Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (October 2013)."Integration of cardiac proteome biology and medicine by a specialized knowledgebase".Circulation Research.113 (9):1043–53.doi:10.1161/CIRCRESAHA.113.301151.PMC 4076475.PMID 23965338.
  10. ^"SLC19A2 - Thiamine transporter 1".Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived fromthe original on 2018-08-23. Retrieved2018-08-23.
  11. ^abc"SLC19A2 - Thiamine transporter 1 - Homo sapiens (Human) - SLC19A2 gene & protein".www.uniprot.org. Retrieved2018-08-21. This article incorporates text available under theCC BY 4.0 license.
  12. ^abc"UniProt: the universal protein knowledgebase".Nucleic Acids Research.45 (D1):D158 –D169. January 2017.doi:10.1093/nar/gkw1099.PMC 5210571.PMID 27899622.
  13. ^abDutta B, Huang W, Molero M, Kekuda R, Leibach FH, Devoe LD, Ganapathy V, Prasad PD (November 1999)."Cloning of the human thiamine transporter, a member of the folate transporter family".The Journal of Biological Chemistry.274 (45):31925–9.doi:10.1074/jbc.274.45.31925.PMID 10542220.
  14. ^abSubramanian VS, Marchant JS, Parker I, Said HM (February 2003)."Cell biology of the human thiamine transporter-1 (hTHTR1). Intracellular trafficking and membrane targeting mechanisms".The Journal of Biological Chemistry.278 (6):3976–84.doi:10.1074/jbc.M210717200.PMID 12454006.
  15. ^abOnline Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {603941}: {11/22/2017}: . World Wide Web URL:https://omim.org/
  16. ^Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (December 2008)."Novel MITF targets identified using a two-step DNA microarray strategy".Pigment Cell & Melanoma Research.21 (6):665–76.doi:10.1111/j.1755-148X.2008.00505.x.PMID 19067971.
  17. ^IntAct."IntAct Portal".www.ebi.ac.uk. Retrieved2018-08-23.

Further reading

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External links

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By group
SLC1–10
(1):
(2):
(3):
(4):
(5):
(6):
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(8):
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(10):
SLC11–20
(11):
(12):
(13):
(14):
(15):
(16):
(17):
(18):
(19):
(20):
SLC21–30
(21):
(22):
(23):
(24):
(25):
(26):
(27):
(28):
(29):
(30):
SLC31–40
(31):
(32):
(33):
(34):
(35):
(36):
(37):
(38):
(39):
(40):
SLC41–48
(41):
(42):
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(44):
(45):
(46):
(47):
(48):
SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

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