UniProt:O60779 SLC19A2

chain
  • chain:1-497
checksum 87A993E2B6FBFE96
comment
  • FUNCTION High-affinity transporter for the intake of thiamine (PubMed:10391222, PubMed:10542220, PubMed:21836059, PubMed:33008889, PubMed:35512554, PubMed:35724964). Mediates H(+)-dependent pyridoxine transport (PubMed:33008889, PubMed:35512554, PubMed:35724964).CATALYTIC ACTIVITY thiamine(out) + H(+)(in) = thiamine(in) + H(+)(out)CATALYTIC ACTIVITY pyridoxine(out) + n H(+)(out) = pyridoxine(in) + n H(+)(in)ACTIVITY REGULATION Pyridoxine transport is inhibited by carbonyl cyanide p-trifluoromethoxyphenylhydrazone (FCCP) and carbonyl cyanide m-chlorophenylhydrazone (CCCP).BIOPHYSICOCHEMICAL PROPERTIES Optimum pH is 8-8.5.SUBUNIT Interacts with TSPAN1; this interaction increases the stability of SLC19A2 (PubMed:21836059). Interacts with TMEM63B (By similarity).INTERACTION Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.SEQUENCE CAUTION Truncated N-terminus.
crossReference
databaseName UniProt
dbId 66009
description
  • recommendedName: Thiamine transporter 1 shortName: ThTr-1 shortName: ThTr1 alternativeName: Solute carrier family 19 member 2 alternativeName: Thiamine carrier 1 shortName: TC1
displayName UniProt:O60779 SLC19A2
geneName
  • SLC19A2
  • THT1
  • TRMA
identifier O60779
isSequenceChanged false
keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cell membrane
  • Deafness
  • Diabetes mellitus
  • Disease variant
  • Glycoprotein
  • Membrane
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Transmembrane
  • Transmembrane helix
  • Transport
modified [InstanceEdit:9963647] Weiser, Joel, 2025-08-15
moleculeType Protein
name
  • SLC19A2
otherIdentifier
  • 10560
  • 11723148_a_at
  • 11723149_a_at
  • 11744616_a_at
  • 16696177
  • 209681_PM_at
  • 209681_at
  • 2443336
  • 2443337
  • 2443338
  • 2443339
  • 2443342
  • 2443343
  • 2443344
  • 2443345
  • 2443346
  • 2443347
  • 2443350
  • 2443351
  • 2443352
  • 2443355
  • 2443356
  • 2443357
  • 2443358
  • 35248_at
  • 7922162
  • A_23_P160466
  • GE55260
  • GO:0005515
  • GO:0005886
  • GO:0006766
  • GO:0006790
  • GO:0007283
  • GO:0008517
  • GO:0009229
  • GO:0015234
  • GO:0015884
  • GO:0015888
  • GO:0016020
  • GO:0022414
  • GO:0031923
  • GO:0035461
  • GO:0042723
  • GO:0051180
  • GO:0055085
  • GO:0071934
  • GO:0090482
  • HMNXSV003005621
  • ILMN_2201668
  • PH_hs_0002598
  • TC01003497.hg
  • g5453325_3p_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • S19A2_HUMAN
  • B2R9H0
  • B4E1X4
  • Q8WV87
  • Q9UBL7
  • Q9UKJ2
  • Q9UN31
  • Q9UN43
sequenceLength 497
species [Species:48887] Homo sapiens
stId uniprot:O60779
url http://purl.uniprot.org/uniprot/O60779
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