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UniProtKB - Q9BZV2 (S19A3_HUMAN)
Protein
Thiamine transporter 2
Gene
SLC19A3
Organism
Homo sapiens (Human)
Status
Functioni
Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity.
1 PublicationGO - Molecular functioni
- thiamine transmembrane transporter activity Source: BHF-UCL
GO - Biological processi
- thiamine-containing compound metabolic process Source: Reactome
- thiamine transmembrane transport Source: BHF-UCL
- transmembrane transport Source: GO_Central
Keywordsi
Biological process | Transport |
Enzyme and pathway databases
PathwayCommonsi | Q9BZV2 |
Reactomei | R-HSA-196819, Vitamin B1 (thiamin) metabolism |
SignaLinki | Q9BZV2 |
SIGNORi | Q9BZV2 |
Protein family/group databases
TCDBi | 2.A.48.1.4, the reduced folate carrier (rfc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Thiamine transporter 2Short name: ThTr-2 Short name: ThTr2 Alternative name(s): Solute carrier family 19 member 3 |
Gene namesi | Name:SLC19A3 |
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:16266, SLC19A3 |
MIMi | 606152, gene |
neXtProti | NX_Q9BZV2 |
VEuPathDBi | HostDB:ENSG00000135917 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Plasma Membrane
- plasma membrane Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 7 | CytoplasmicSequence analysis | 7 | |
Transmembranei | 8 – 28 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 29 – 53 | ExtracellularSequence analysisAdd BLAST | 25 | |
Transmembranei | 54 – 74 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 75 – 81 | CytoplasmicSequence analysis | 7 | |
Transmembranei | 82 – 102 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 103 – 110 | ExtracellularSequence analysis | 8 | |
Transmembranei | 111 – 131 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 132 – 144 | CytoplasmicSequence analysisAdd BLAST | 13 | |
Transmembranei | 145 – 165 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 166 – 169 | ExtracellularSequence analysis | 4 | |
Transmembranei | 170 – 190 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 191 – 282 | CytoplasmicSequence analysisAdd BLAST | 92 | |
Transmembranei | 283 – 303 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 304 – 316 | ExtracellularSequence analysisAdd BLAST | 13 | |
Transmembranei | 317 – 337 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 338 – 342 | CytoplasmicSequence analysis | 5 | |
Transmembranei | 343 – 363 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 364 – 375 | ExtracellularSequence analysisAdd BLAST | 12 | |
Transmembranei | 376 – 396 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 397 – 405 | CytoplasmicSequence analysis | 9 | |
Transmembranei | 406 – 426 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 427 – 434 | ExtracellularSequence analysis | 8 | |
Transmembranei | 435 – 455 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 456 – 496 | CytoplasmicSequence analysisAdd BLAST | 41 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_025992 | 23 | G → V in THMD2. 1 PublicationCorresponds to variant dbSNP:rs121917882EnsemblClinVar. | 1 | |
Natural variantiVAR_025993 | 422 | T → A in THMD2. 1 PublicationCorresponds to variant dbSNP:rs121917884EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 80704 |
GeneReviewsi | SLC19A3 |
MalaCardsi | SLC19A3 |
MIMi | 607483, phenotype |
OpenTargetsi | ENSG00000135917 |
Orphaneti | 65284, Biotin-thiamine-responsive basal ganglia disease 263410, Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 255241, Leigh syndrome with leukodystrophy 199348, Thiamine-responsive encephalopathy |
PharmGKBi | PA38397 |
Miscellaneous databases
Pharosi | Q9BZV2, Tbio |
Chemistry databases
DrugBanki | DB00152, Thiamine |
Genetic variation databases
BioMutai | SLC19A3 |
DMDMi | 74733486 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000232656 | 1 – 496 | Thiamine transporter 2Add BLAST | 496 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 45 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 166 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | Q9BZV2 |
jPOSTi | Q9BZV2 |
MassIVEi | Q9BZV2 |
MaxQBi | Q9BZV2 |
PaxDbi | Q9BZV2 |
PeptideAtlasi | Q9BZV2 |
PRIDEi | Q9BZV2 |
ProteomicsDBi | 79906 |
PTM databases
GlyGeni | Q9BZV2, 2 sites |
iPTMneti | Q9BZV2 |
PhosphoSitePlusi | Q9BZV2 |
Expressioni
Tissue specificityi
Widely expressed but most abundant in placenta, kidney and liver.2 Publications
Gene expression databases
Bgeei | ENSG00000135917, Expressed in colon and 135 other tissues |
ExpressionAtlasi | Q9BZV2, baseline and differential |
Genevisiblei | Q9BZV2, HS |
Organism-specific databases
HPAi | ENSG00000135917, Tissue enhanced (adipose tissue, breast, placenta) |
Interactioni
Binary interactionsi
Q9BZV2
Protein-protein interaction databases
BioGRIDi | 123266, 16 interactors |
IntActi | Q9BZV2, 16 interactors |
MINTi | Q9BZV2 |
STRINGi | 9606.ENSP00000258403 |
Miscellaneous databases
RNActi | Q9BZV2, protein |
Structurei
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 468 – 496 | DisorderedSequence analysisAdd BLAST | 29 |
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 | Q9BZV2 |
OMAi | QDVYPFG |
OrthoDBi | 795242at2759 |
PhylomeDBi | Q9BZV2 |
TreeFami | TF313684 |
Family and domain databases
Gene3Di | 1.20.1250.20, 1 hit |
InterProi | View protein in InterPro IPR002666, Folate_carrier IPR036259, MFS_trans_sf IPR028337, ThTr-2 |
PANTHERi | PTHR10686, PTHR10686, 1 hit |
Pfami | View protein in Pfam PF01770, Folate_carrier, 1 hit |
PIRSFi | PIRSF028739, Folate_carrier, 1 hit PIRSF500795, Thiamine_transporter_2, 1 hit |
SUPFAMi | SSF103473, SSF103473, 1 hit |
TIGRFAMsi | TIGR00806, rfc, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 9 potential isoforms that are computationally mapped.Show allAlign All
Q9BZV2-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MDCYRTSLSS SWIYPTVILC LFGFFSMMRP SEPFLIPYLS GPDKNLTSAE
60 70 80 90 100
ITNEIFPVWT YSYLVLLLPV FVLTDYVRYK PVIILQGISF IITWLLLLFG
110 120 130 140 150
QGVKTMQVVE FFYGMVTAAE VAYYAYIYSV VSPEHYQRVS GYCRSVTLAA
160 170 180 190 200
YTAGSVLAQL LVSLANMSYF YLNVISLASV SVAFLFSLFL PMPKKSMFFH
210 220 230 240 250
AKPSREIKKS SSVNPVLEET HEGEAPGCEE QKPTSEILST SGKLNKGQLN
260 270 280 290 300
SLKPSNVTVD VFVQWFQDLK ECYSSKRLFY WSLWWAFATA GFNQVLNYVQ
310 320 330 340 350
ILWDYKAPSQ DSSIYNGAVE AIATFGGAVA AFAVGYVKVN WDLLGELALV
360 370 380 390 400
VFSVVNAGSL FLMHYTANIW ACYAGYLIFK SSYMLLITIA VFQIAVNLNV
410 420 430 440 450
ERYALVFGIN TFIALVIQTI MTVIVVDQRG LNLPVSIQFL VYGSYFAVIA
460 470 480 490
GIFLMRSMYI TYSTKSQKDV QSPAPSENPD VSHPEEESNI IMSTKL
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8YHG5 | A0A2R8YHG5_HUMAN | Thiamine transporter 2 | SLC19A3 | 508 | Annotation score: | ||
C9IZI1 | C9IZI1_HUMAN | Thiamine transporter 2 | SLC19A3 | 229 | Annotation score: | ||
C9J4J5 | C9J4J5_HUMAN | Thiamine transporter 2 | SLC19A3 | 64 | Annotation score: | ||
B8ZZ39 | B8ZZ39_HUMAN | Thiamine transporter 2 | SLC19A3 | 54 | Annotation score: | ||
B8ZZW1 | B8ZZW1_HUMAN | Thiamine transporter 2 | SLC19A3 | 92 | Annotation score: | ||
A0A2R8YFC5 | A0A2R8YFC5_HUMAN | Thiamine transporter 2 | SLC19A3 | 286 | Annotation score: | ||
A0A2R8Y655 | A0A2R8Y655_HUMAN | Thiamine transporter 2 | SLC19A3 | 60 | Annotation score: | ||
A0A2R8Y694 | A0A2R8Y694_HUMAN | Thiamine transporter 2 | SLC19A3 | 56 | Annotation score: | ||
E7EM61 | E7EM61_HUMAN | Thiamine transporter 2 | SLC19A3 | 56 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_025992 | 23 | G → V in THMD2. 1 PublicationCorresponds to variant dbSNP:rs121917882EnsemblClinVar. | 1 | |
Natural variantiVAR_061864 | 174 | V → I. Corresponds to variant dbSNP:rs59736804EnsemblClinVar. | 1 | |
Natural variantiVAR_052405 | 350 | V → A. Corresponds to variant dbSNP:rs34507036EnsemblClinVar. | 1 | |
Natural variantiVAR_025993 | 422 | T → A in THMD2. 1 PublicationCorresponds to variant dbSNP:rs121917884EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF271633 mRNA Translation: AAG53879.1 AF283317 mRNA Translation: AAK69539.1 AC064853 Genomic DNA Translation: AAX93157.1 BC032014 mRNA Translation: AAH32014.1 |
CCDSi | CCDS2468.1 |
RefSeqi | NP_079519.1, NM_025243.3 XP_011510234.1, XM_011511932.1 XP_011510235.1, XM_011511933.1 |
Genome annotation databases
Ensembli | ENST00000258403; ENSP00000258403; ENSG00000135917 ENST00000644224; ENSP00000495385; ENSG00000135917 |
GeneIDi | 80704 |
KEGGi | hsa:80704 |
MANE-Selecti | ENST00000644224.2; ENSP00000495385.1; NM_025243.4; NP_079519.1 |
UCSCi | uc002vpi.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF271633 mRNA Translation: AAG53879.1 AF283317 mRNA Translation: AAK69539.1 AC064853 Genomic DNA Translation: AAX93157.1 BC032014 mRNA Translation: AAH32014.1 |
CCDSi | CCDS2468.1 |
RefSeqi | NP_079519.1, NM_025243.3 XP_011510234.1, XM_011511932.1 XP_011510235.1, XM_011511933.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 123266, 16 interactors |
IntActi | Q9BZV2, 16 interactors |
MINTi | Q9BZV2 |
STRINGi | 9606.ENSP00000258403 |
Chemistry databases
DrugBanki | DB00152, Thiamine |
Protein family/group databases
TCDBi | 2.A.48.1.4, the reduced folate carrier (rfc) family |
PTM databases
GlyGeni | Q9BZV2, 2 sites |
iPTMneti | Q9BZV2 |
PhosphoSitePlusi | Q9BZV2 |
Genetic variation databases
BioMutai | SLC19A3 |
DMDMi | 74733486 |
Proteomic databases
EPDi | Q9BZV2 |
jPOSTi | Q9BZV2 |
MassIVEi | Q9BZV2 |
MaxQBi | Q9BZV2 |
PaxDbi | Q9BZV2 |
PeptideAtlasi | Q9BZV2 |
PRIDEi | Q9BZV2 |
ProteomicsDBi | 79906 |
Protocols and materials databases
Antibodypediai | 34387, 132 antibodies from 25 providers |
DNASUi | 80704 |
Genome annotation databases
Ensembli | ENST00000258403; ENSP00000258403; ENSG00000135917 ENST00000644224; ENSP00000495385; ENSG00000135917 |
GeneIDi | 80704 |
KEGGi | hsa:80704 |
MANE-Selecti | ENST00000644224.2; ENSP00000495385.1; NM_025243.4; NP_079519.1 |
UCSCi | uc002vpi.4, human |
Organism-specific databases
CTDi | 80704 |
DisGeNETi | 80704 |
GeneCardsi | SLC19A3 |
GeneReviewsi | SLC19A3 |
HGNCi | HGNC:16266, SLC19A3 |
HPAi | ENSG00000135917, Tissue enhanced (adipose tissue, breast, placenta) |
MalaCardsi | SLC19A3 |
MIMi | 606152, gene 607483, phenotype |
neXtProti | NX_Q9BZV2 |
OpenTargetsi | ENSG00000135917 |
Orphaneti | 65284, Biotin-thiamine-responsive basal ganglia disease 263410, Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 255241, Leigh syndrome with leukodystrophy 199348, Thiamine-responsive encephalopathy |
PharmGKBi | PA38397 |
VEuPathDBi | HostDB:ENSG00000135917 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3810, Eukaryota |
GeneTreei | ENSGT00950000183022 |
HOGENOMi | CLU_036909_0_1_1 |
InParanoidi | Q9BZV2 |
OMAi | QDVYPFG |
OrthoDBi | 795242at2759 |
PhylomeDBi | Q9BZV2 |
TreeFami | TF313684 |
Enzyme and pathway databases
PathwayCommonsi | Q9BZV2 |
Reactomei | R-HSA-196819, Vitamin B1 (thiamin) metabolism |
SignaLinki | Q9BZV2 |
SIGNORi | Q9BZV2 |
Miscellaneous databases
BioGRID-ORCSi | 80704, 1 hit in 1033 CRISPR screens |
ChiTaRSi | SLC19A3, human |
GeneWikii | SLC19A3 |
GenomeRNAii | 80704 |
Pharosi | Q9BZV2, Tbio |
PROi | PR:Q9BZV2 |
RNActi | Q9BZV2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000135917, Expressed in colon and 135 other tissues |
ExpressionAtlasi | Q9BZV2, baseline and differential |
Genevisiblei | Q9BZV2, HS |
Family and domain databases
Gene3Di | 1.20.1250.20, 1 hit |
InterProi | View protein in InterPro IPR002666, Folate_carrier IPR036259, MFS_trans_sf IPR028337, ThTr-2 |
PANTHERi | PTHR10686, PTHR10686, 1 hit |
Pfami | View protein in Pfam PF01770, Folate_carrier, 1 hit |
PIRSFi | PIRSF028739, Folate_carrier, 1 hit PIRSF500795, Thiamine_transporter_2, 1 hit |
SUPFAMi | SSF103473, SSF103473, 1 hit |
TIGRFAMsi | TIGR00806, rfc, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | S19A3_HUMAN | |
Accessioni | Q9BZV2Primary (citable) accession number: Q9BZV2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 18, 2006 |
Last sequence update: | June 1, 2001 | |
Last modified: | February 23, 2022 | |
This is version 158 of the entry and version 1 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 chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - 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