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Protein

Thiamine transporter 2

Gene

SLC19A3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000135917-MONOMER.
ReactomeiR-HSA-196819. Vitamin B1 (thiamin) metabolism.

Protein family/group databases

TCDBi2.A.48.1.4. the reduced folate carrier (rfc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Thiamine transporter 2
Short name:
ThTr-2
Short name:
ThTr2
Alternative name(s):
Solute carrier family 19 member 3
Gene namesi
Name:SLC19A3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:16266. SLC19A3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 7CytoplasmicSequence analysis7
Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Topological domaini29 – 53ExtracellularSequence analysisAdd BLAST25
Transmembranei54 – 74HelicalSequence analysisAdd BLAST21
Topological domaini75 – 81CytoplasmicSequence analysis7
Transmembranei82 – 102HelicalSequence analysisAdd BLAST21
Topological domaini103 – 110ExtracellularSequence analysis8
Transmembranei111 – 131HelicalSequence analysisAdd BLAST21
Topological domaini132 – 144CytoplasmicSequence analysisAdd BLAST13
Transmembranei145 – 165HelicalSequence analysisAdd BLAST21
Topological domaini166 – 169ExtracellularSequence analysis4
Transmembranei170 – 190HelicalSequence analysisAdd BLAST21
Topological domaini191 – 282CytoplasmicSequence analysisAdd BLAST92
Transmembranei283 – 303HelicalSequence analysisAdd BLAST21
Topological domaini304 – 316ExtracellularSequence analysisAdd BLAST13
Transmembranei317 – 337HelicalSequence analysisAdd BLAST21
Topological domaini338 – 342CytoplasmicSequence analysis5
Transmembranei343 – 363HelicalSequence analysisAdd BLAST21
Topological domaini364 – 375ExtracellularSequence analysisAdd BLAST12
Transmembranei376 – 396HelicalSequence analysisAdd BLAST21
Topological domaini397 – 405CytoplasmicSequence analysis9
Transmembranei406 – 426HelicalSequence analysisAdd BLAST21
Topological domaini427 – 434ExtracellularSequence analysis8
Transmembranei435 – 455HelicalSequence analysisAdd BLAST21
Topological domaini456 – 496CytoplasmicSequence analysisAdd BLAST41

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB
  • integral component of plasma membrane Source: GO_Central
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2)1 Publication
The disease is caused by mutations 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.
See also OMIM:607483
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02599223G → V in THMD2. 1 PublicationCorresponds to variant rs121917882dbSNPEnsembl.1
Natural variantiVAR_025993422T → A in THMD2. 1 PublicationCorresponds to variant rs121917884dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi80704.
MalaCardsiSLC19A3.
MIMi607483. phenotype.
OpenTargetsiENSG00000135917.
Orphaneti65284. Biotin-responsive basal ganglia disease.
263410. Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease.
255241. Leigh syndrome with leukodystrophy.
199348. Thiamine-responsive encephalopathy.
PharmGKBiPA38397.

Chemistry databases

DrugBankiDB00151. L-Cysteine.

Polymorphism and mutation databases

BioMutaiSLC19A3.
DMDMi74733486.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002326561 – 496Thiamine transporter 2Add BLAST496

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi45N-linked (GlcNAc...)1 Publication1
Glycosylationi166N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9BZV2.
MaxQBiQ9BZV2.
PaxDbiQ9BZV2.
PeptideAtlasiQ9BZV2.
PRIDEiQ9BZV2.

PTM databases

iPTMnetiQ9BZV2.
PhosphoSitePlusiQ9BZV2.

Expressioni

Tissue specificityi

Widely expressed but most abundant in placenta, kidney and liver.2 Publications

Gene expression databases

BgeeiENSG00000135917.
CleanExiHS_SLC19A3.
ExpressionAtlasiQ9BZV2. baseline and differential.
GenevisibleiQ9BZV2. HS.

Organism-specific databases

HPAiHPA038898.

Interactioni

Protein-protein interaction databases

BioGridi123266. 5 interactors.
IntActiQ9BZV2. 4 interactors.
MINTiMINT-5006585.
STRINGi9606.ENSP00000258403.

Structurei

3D structure databases

ProteinModelPortaliQ9BZV2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3810. Eukaryota.
ENOG410XT34. LUCA.
GeneTreeiENSGT00510000046382.
HOGENOMiHOG000001583.
HOVERGENiHBG054198.
InParanoidiQ9BZV2.
KOiK14610.
OMAiMYIIYST.
OrthoDBiEOG091G0BSJ.
PhylomeDBiQ9BZV2.
TreeFamiTF313684.

Family and domain databases

InterProiIPR002666. Folate_carrier.
IPR020846. MFS_dom.
IPR028337. ThTr-2.
[Graphical view]
PANTHERiPTHR10686. PTHR10686. 1 hit.
PfamiPF01770. Folate_carrier. 1 hit.
[Graphical view]
PIRSFiPIRSF028739. Folate_carrier. 1 hit.
PIRSF500795. Thiamine_transporter_2. 1 hit.
SUPFAMiSSF103473. SSF103473. 2 hits.
TIGRFAMsiTIGR00806. rfc. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9BZV2-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:496
Mass (Da):55,665
Last modified:June 1, 2001 - v1
Checksum:iB102651C205F0F16
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02599223G → V in THMD2. 1 PublicationCorresponds to variant rs121917882dbSNPEnsembl.1
Natural variantiVAR_061864174V → I.Corresponds to variant rs59736804dbSNPEnsembl.1
Natural variantiVAR_052405350V → A.Corresponds to variant rs34507036dbSNPEnsembl.1
Natural variantiVAR_025993422T → A in THMD2. 1 PublicationCorresponds to variant rs121917884dbSNPEnsembl.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.
CCDSiCCDS2468.1.
RefSeqiNP_079519.1. NM_025243.3.
XP_011510234.1. XM_011511932.1.
XP_011510235.1. XM_011511933.1.
UniGeneiHs.221597.

Genome annotation databases

EnsembliENST00000258403; ENSP00000258403; ENSG00000135917.
ENST00000425817; ENSP00000397393; ENSG00000135917.
GeneIDi80704.
KEGGihsa:80704.
UCSCiuc002vpi.4. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS2468.1.
RefSeqiNP_079519.1. NM_025243.3.
XP_011510234.1. XM_011511932.1.
XP_011510235.1. XM_011511933.1.
UniGeneiHs.221597.

3D structure databases

ProteinModelPortaliQ9BZV2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123266. 5 interactors.
IntActiQ9BZV2. 4 interactors.
MINTiMINT-5006585.
STRINGi9606.ENSP00000258403.

Chemistry databases

DrugBankiDB00151. L-Cysteine.

Protein family/group databases

TCDBi2.A.48.1.4. the reduced folate carrier (rfc) family.

PTM databases

iPTMnetiQ9BZV2.
PhosphoSitePlusiQ9BZV2.

Polymorphism and mutation databases

BioMutaiSLC19A3.
DMDMi74733486.

Proteomic databases

EPDiQ9BZV2.
MaxQBiQ9BZV2.
PaxDbiQ9BZV2.
PeptideAtlasiQ9BZV2.
PRIDEiQ9BZV2.

Protocols and materials databases

DNASUi80704.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258403; ENSP00000258403; ENSG00000135917.
ENST00000425817; ENSP00000397393; ENSG00000135917.
GeneIDi80704.
KEGGihsa:80704.
UCSCiuc002vpi.4. human.

Organism-specific databases

CTDi80704.
DisGeNETi80704.
GeneCardsiSLC19A3.
GeneReviewsiSLC19A3.
HGNCiHGNC:16266. SLC19A3.
HPAiHPA038898.
MalaCardsiSLC19A3.
MIMi606152. gene.
607483. phenotype.
neXtProtiNX_Q9BZV2.
OpenTargetsiENSG00000135917.
Orphaneti65284. Biotin-responsive basal ganglia disease.
263410. Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease.
255241. Leigh syndrome with leukodystrophy.
199348. Thiamine-responsive encephalopathy.
PharmGKBiPA38397.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3810. Eukaryota.
ENOG410XT34. LUCA.
GeneTreeiENSGT00510000046382.
HOGENOMiHOG000001583.
HOVERGENiHBG054198.
InParanoidiQ9BZV2.
KOiK14610.
OMAiMYIIYST.
OrthoDBiEOG091G0BSJ.
PhylomeDBiQ9BZV2.
TreeFamiTF313684.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000135917-MONOMER.
ReactomeiR-HSA-196819. Vitamin B1 (thiamin) metabolism.

Miscellaneous databases

ChiTaRSiSLC19A3. human.
GeneWikiiSLC19A3.
GenomeRNAii80704.
PROiQ9BZV2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135917.
CleanExiHS_SLC19A3.
ExpressionAtlasiQ9BZV2. baseline and differential.
GenevisibleiQ9BZV2. HS.

Family and domain databases

InterProiIPR002666. Folate_carrier.
IPR020846. MFS_dom.
IPR028337. ThTr-2.
[Graphical view]
PANTHERiPTHR10686. PTHR10686. 1 hit.
PfamiPF01770. Folate_carrier. 1 hit.
[Graphical view]
PIRSFiPIRSF028739. Folate_carrier. 1 hit.
PIRSF500795. Thiamine_transporter_2. 1 hit.
SUPFAMiSSF103473. SSF103473. 2 hits.
TIGRFAMsiTIGR00806. rfc. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiS19A3_HUMAN
AccessioniPrimary (citable) accession number: Q9BZV2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: June 1, 2001
Last modified: November 2, 2016
This is version 125 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.