UniProtKB - O60779 (S19A2_HUMAN)
Protein
Thiamine transporter 1
Gene
SLC19A2
Organism
Homo sapiens (Human)
Status
Functioni
High-affinity transporter for the intake of thiamine.2 Publications
GO - Molecular functioni
- folic acid transmembrane transporter activity Source: UniProtKB
- thiamine transmembrane transporter activity Source: UniProtKB
GO - Biological processi
- thiamine-containing compound metabolic process Source: Reactome
- thiamine transmembrane transport Source: BHF-UCL
- thiamine transport Source: GO_Central
- transmembrane transport Source: GO_Central
Keywordsi
Biological process | Transport |
Enzyme and pathway databases
PathwayCommonsi | O60779 |
Reactomei | R-HSA-196819, Vitamin B1 (thiamin) metabolism |
SABIO-RKi | O60779 |
Protein family/group databases
TCDBi | 2.A.48.1.2, the reduced folate carrier (rfc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Thiamine transporter 1Short name: ThTr-1 Short name: ThTr1 Alternative name(s): Solute carrier family 19 member 2 Thiamine carrier 1 Short name: TC1 |
Gene namesi | Name:SLC19A2 Synonyms:THT1, TRMA |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:10938, SLC19A2 |
MIMi | 603941, gene |
neXtProti | NX_O60779 |
VEuPathDBi | HostDB:ENSG00000117479.12 |
Subcellular locationi
Plasma membrane
- Cell membrane 2 Publications; Multi-pass membrane protein Sequence analysis
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 28 | CytoplasmicSequence analysisAdd BLAST | 28 | |
Transmembranei | 29 – 46 | HelicalSequence analysisAdd BLAST | 18 | |
Topological domaini | 47 – 72 | ExtracellularSequence analysisAdd BLAST | 26 | |
Transmembranei | 73 – 91 | HelicalSequence analysisAdd BLAST | 19 | |
Topological domaini | 92 – 99 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 100 – 118 | HelicalSequence analysisAdd BLAST | 19 | |
Topological domaini | 119 – 128 | ExtracellularSequence analysis | 10 | |
Transmembranei | 129 – 149 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 150 – 165 | CytoplasmicSequence analysisAdd BLAST | 16 | |
Transmembranei | 166 – 185 | HelicalSequence analysisAdd BLAST | 20 | |
Topological domaini | 186 – 191 | ExtracellularSequence analysis | 6 | |
Transmembranei | 192 – 208 | HelicalSequence analysisAdd BLAST | 17 | |
Topological domaini | 209 – 285 | CytoplasmicSequence analysisAdd BLAST | 77 | |
Transmembranei | 286 – 310 | HelicalSequence analysisAdd BLAST | 25 | |
Topological domaini | 311 – 337 | ExtracellularSequence analysisAdd BLAST | 27 | |
Transmembranei | 338 – 354 | HelicalSequence analysisAdd BLAST | 17 | |
Topological domaini | 355 – 363 | CytoplasmicSequence analysis | 9 | |
Transmembranei | 364 – 380 | HelicalSequence analysisAdd BLAST | 17 | |
Topological domaini | 381 – 386 | ExtracellularSequence analysis | 6 | |
Transmembranei | 387 – 409 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 410 – 419 | CytoplasmicSequence analysis | 10 | |
Transmembranei | 420 – 443 | HelicalSequence analysisAdd BLAST | 24 | |
Topological domaini | 444 – 455 | ExtracellularSequence analysisAdd BLAST | 12 | |
Transmembranei | 456 – 479 | HelicalSequence analysisAdd BLAST | 24 | |
Topological domaini | 480 – 497 | CytoplasmicSequence analysisAdd BLAST | 18 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Thiamine-responsive megaloblastic anemia syndrome (TRMA)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010249 | 93 | D → H in TRMA. 1 Publication | 1 | |
Natural variantiVAR_010250 | 143 | S → F in TRMA. 1 PublicationCorresponds to variant dbSNP:rs761957186EnsemblClinVar. | 1 | |
Natural variantiVAR_010248 | 172 | G → D in TRMA. 1 PublicationCorresponds to variant dbSNP:rs28937595EnsemblClinVar. | 1 |
Keywords - Diseasei
Deafness, Diabetes mellitus, Disease variantOrganism-specific databases
DisGeNETi | 10560 |
GeneReviewsi | SLC19A2 |
MalaCardsi | SLC19A2 |
MIMi | 249270, phenotype |
OpenTargetsi | ENSG00000117479 |
Orphaneti | 49827, Thiamine-responsive megaloblastic anemia syndrome |
PharmGKBi | PA35825 |
Miscellaneous databases
Pharosi | O60779, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3079 |
DrugBanki | DB00152, Thiamine |
DrugCentrali | O60779 |
Genetic variation databases
BioMutai | SLC19A2 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000178663 | 1 – 497 | Thiamine transporter 1Add BLAST | 497 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Glycosylationi | 63 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 222 | PhosphoserineCombined sources | 1 | |
Glycosylationi | 314 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Acetylation, Glycoprotein, PhosphoproteinProteomic databases
EPDi | O60779 |
jPOSTi | O60779 |
MassIVEi | O60779 |
MaxQBi | O60779 |
PaxDbi | O60779 |
PeptideAtlasi | O60779 |
PRIDEi | O60779 |
ProteomicsDBi | 49594 [O60779-1] 49595 [O60779-2] |
PTM databases
GlyGeni | O60779, 2 sites |
iPTMneti | O60779 |
PhosphoSitePlusi | O60779 |
Expressioni
Tissue specificityi
Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.2 Publications
Gene expression databases
Bgeei | ENSG00000117479, Expressed in secondary oocyte and 231 other tissues |
ExpressionAtlasi | O60779, baseline and differential |
Genevisiblei | O60779, HS |
Organism-specific databases
HPAi | ENSG00000117479, Tissue enhanced (skeletal) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 115811, 45 interactors |
IntActi | O60779, 32 interactors |
STRINGi | 9606.ENSP00000236137 |
Chemistry databases
BindingDBi | O60779 |
Miscellaneous databases
RNActi | O60779, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. [View classification]Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3810, Eukaryota |
GeneTreei | ENSGT00950000183022 |
HOGENOMi | CLU_036909_0_1_1 |
InParanoidi | O60779 |
OMAi | VCYSSRP |
PhylomeDBi | O60779 |
TreeFami | TF313684 |
Family and domain databases
InterProi | View protein in InterPro IPR002666, Folate_carrier IPR036259, MFS_trans_sf IPR028338, ThTr-1 |
PANTHERi | PTHR10686, PTHR10686, 1 hit |
Pfami | View protein in Pfam PF01770, Folate_carrier, 1 hit |
PIRSFi | PIRSF028739, Folate_carrier, 1 hit PIRSF500794, Thiamine_transporter_1, 1 hit |
SUPFAMi | SSF103473, SSF103473, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: O60779-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDVPGPVSRR AAAAAATVLL RTARVRRECW FLPTALLCAY GFFASLRPSE
60 70 80 90 100
PFLTPYLLGP DKNLTEREVF NEIYPVWTYS YLVLLFPVFL ATDYLRYKPV
110 120 130 140 150
VLLQGLSLIV TWFMLLYAQG LLAIQFLEFF YGIATATEIA YYSYIYSVVD
160 170 180 190 200
LGMYQKVTSY CRSATLVGFT VGSVLGQILV SVAGWSLFSL NVISLTCVSV
210 220 230 240 250
AFAVAWFLPM PQKSLFFHHI PSTCQRVNGI KVQNGGIVTD TPASNHLPGW
260 270 280 290 300
EDIESKIPLN MEEPPVEEPE PKPDRLLVLK VLWNDFLMCY SSRPLLCWSV
310 320 330 340 350
WWALSTCGYF QVVNYTQGLW EKVMPSRYAA IYNGGVEAVS TLLGAVAVFA
360 370 380 390 400
VGYIKISWST WGEMTLSLFS LLIAAAVYIM DTVGNIWVCY ASYVVFRIIY
410 420 430 440 450
MLLITIATFQ IAANLSMERY ALVFGVNTFI ALALQTLLTL IVVDASGLGL
460 470 480 490
EITTQFLIYA SYFALIAVVF LASGAVSVMK KCRKLEDPQS SSQVTTS
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8Y5B5 | A0A2R8Y5B5_HUMAN | Solute carrier family 19 (Thiamine ... | SLC19A2 hCG_38014 | 464 | Annotation score: |
Sequence cautioni
The sequence BAG64936 differs from that shown. Reason: Erroneous initiation.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010249 | 93 | D → H in TRMA. 1 Publication | 1 | |
Natural variantiVAR_010250 | 143 | S → F in TRMA. 1 PublicationCorresponds to variant dbSNP:rs761957186EnsemblClinVar. | 1 | |
Natural variantiVAR_010248 | 172 | G → D in TRMA. 1 PublicationCorresponds to variant dbSNP:rs28937595EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_036467 | 69 – 269 | Missing in isoform 2. 1 PublicationAdd BLAST | 201 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF160812 mRNA Translation: AAF15129.1 AJ238413 Genomic DNA Translation: CAB50771.1 AJ237724 mRNA Translation: CAB50770.1 AF135488 mRNA Translation: AAD45985.1 AF158233 Genomic DNA Translation: AAD51280.1 Sequence problems. AF160186 Genomic DNA Translation: AAD51283.1 Sequence problems. AF160756 Genomic DNA Translation: AAD54242.1 AF153330 mRNA Translation: AAD43534.1 AF272359 mRNA Translation: AAK54468.1 AK304021 mRNA Translation: BAG64936.1 Different initiation. AK313779 mRNA Translation: BAG36517.1 AK316465 mRNA Translation: BAH14836.1 AL021068 Genomic DNA No translation available. CH471067 Genomic DNA Translation: EAW90843.1 CH471067 Genomic DNA Translation: EAW90846.1 BC018514 mRNA Translation: AAH18514.1 |
CCDSi | CCDS1280.1 [O60779-1] CCDS81398.1 [O60779-2] |
RefSeqi | NP_001306596.1, NM_001319667.1 [O60779-2] NP_008927.1, NM_006996.2 [O60779-1] |
Genome annotation databases
Ensembli | ENST00000236137; ENSP00000236137; ENSG00000117479 [O60779-1] ENST00000367804; ENSP00000356778; ENSG00000117479 [O60779-2] |
GeneIDi | 10560 |
KEGGi | hsa:10560 |
UCSCi | uc001gge.5, human [O60779-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF160812 mRNA Translation: AAF15129.1 AJ238413 Genomic DNA Translation: CAB50771.1 AJ237724 mRNA Translation: CAB50770.1 AF135488 mRNA Translation: AAD45985.1 AF158233 Genomic DNA Translation: AAD51280.1 Sequence problems. AF160186 Genomic DNA Translation: AAD51283.1 Sequence problems. AF160756 Genomic DNA Translation: AAD54242.1 AF153330 mRNA Translation: AAD43534.1 AF272359 mRNA Translation: AAK54468.1 AK304021 mRNA Translation: BAG64936.1 Different initiation. AK313779 mRNA Translation: BAG36517.1 AK316465 mRNA Translation: BAH14836.1 AL021068 Genomic DNA No translation available. CH471067 Genomic DNA Translation: EAW90843.1 CH471067 Genomic DNA Translation: EAW90846.1 BC018514 mRNA Translation: AAH18514.1 |
CCDSi | CCDS1280.1 [O60779-1] CCDS81398.1 [O60779-2] |
RefSeqi | NP_001306596.1, NM_001319667.1 [O60779-2] NP_008927.1, NM_006996.2 [O60779-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 115811, 45 interactors |
IntActi | O60779, 32 interactors |
STRINGi | 9606.ENSP00000236137 |
Chemistry databases
BindingDBi | O60779 |
ChEMBLi | CHEMBL3079 |
DrugBanki | DB00152, Thiamine |
DrugCentrali | O60779 |
Protein family/group databases
TCDBi | 2.A.48.1.2, the reduced folate carrier (rfc) family |
PTM databases
GlyGeni | O60779, 2 sites |
iPTMneti | O60779 |
PhosphoSitePlusi | O60779 |
Genetic variation databases
BioMutai | SLC19A2 |
Proteomic databases
EPDi | O60779 |
jPOSTi | O60779 |
MassIVEi | O60779 |
MaxQBi | O60779 |
PaxDbi | O60779 |
PeptideAtlasi | O60779 |
PRIDEi | O60779 |
ProteomicsDBi | 49594 [O60779-1] 49595 [O60779-2] |
Protocols and materials databases
Antibodypediai | 1655, 90 antibodies |
Genome annotation databases
Ensembli | ENST00000236137; ENSP00000236137; ENSG00000117479 [O60779-1] ENST00000367804; ENSP00000356778; ENSG00000117479 [O60779-2] |
GeneIDi | 10560 |
KEGGi | hsa:10560 |
UCSCi | uc001gge.5, human [O60779-1] |
Organism-specific databases
CTDi | 10560 |
DisGeNETi | 10560 |
GeneCardsi | SLC19A2 |
GeneReviewsi | SLC19A2 |
HGNCi | HGNC:10938, SLC19A2 |
HPAi | ENSG00000117479, Tissue enhanced (skeletal) |
MalaCardsi | SLC19A2 |
MIMi | 249270, phenotype 603941, gene |
neXtProti | NX_O60779 |
OpenTargetsi | ENSG00000117479 |
Orphaneti | 49827, Thiamine-responsive megaloblastic anemia syndrome |
PharmGKBi | PA35825 |
VEuPathDBi | HostDB:ENSG00000117479.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3810, Eukaryota |
GeneTreei | ENSGT00950000183022 |
HOGENOMi | CLU_036909_0_1_1 |
InParanoidi | O60779 |
OMAi | VCYSSRP |
PhylomeDBi | O60779 |
TreeFami | TF313684 |
Enzyme and pathway databases
PathwayCommonsi | O60779 |
Reactomei | R-HSA-196819, Vitamin B1 (thiamin) metabolism |
SABIO-RKi | O60779 |
Miscellaneous databases
BioGRID-ORCSi | 10560, 21 hits in 875 CRISPR screens |
ChiTaRSi | SLC19A2, human |
GeneWikii | SLC19A2 |
GenomeRNAii | 10560 |
Pharosi | O60779, Tbio |
PROi | PR:O60779 |
RNActi | O60779, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000117479, Expressed in secondary oocyte and 231 other tissues |
ExpressionAtlasi | O60779, baseline and differential |
Genevisiblei | O60779, HS |
Family and domain databases
InterProi | View protein in InterPro IPR002666, Folate_carrier IPR036259, MFS_trans_sf IPR028338, ThTr-1 |
PANTHERi | PTHR10686, PTHR10686, 1 hit |
Pfami | View protein in Pfam PF01770, Folate_carrier, 1 hit |
PIRSFi | PIRSF028739, Folate_carrier, 1 hit PIRSF500794, Thiamine_transporter_1, 1 hit |
SUPFAMi | SSF103473, SSF103473, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | S19A2_HUMAN | |
Accessioni | O60779Primary (citable) accession number: O60779 Secondary accession number(s): B2R9H0 Q9UN43 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1999 |
Last sequence update: | January 24, 2001 | |
Last modified: | February 10, 2021 | |
This is version 184 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants