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UniProtKB - Q9BZV2 (S19A3_HUMAN)

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Protein

Thiamine transporter 2

Gene

SLC19A3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processTransport

Enzyme and pathway databases

ReactomeiR-HSA-196819 Vitamin B1 (thiamin) metabolism
SIGNORiQ9BZV2

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000135917.13
HGNCiHGNC:16266 SLC19A3
MIMi606152 gene
neXtProtiNX_Q9BZV2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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 dbSNP:rs121917882EnsemblClinVar.1
Natural variantiVAR_025993422T → A in THMD2. 1 PublicationCorresponds to variant dbSNP:rs121917884EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi80704
GeneReviewsiSLC19A3
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...) asparagine1 Publication1
Glycosylationi166N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9BZV2
MaxQBiQ9BZV2
PaxDbiQ9BZV2
PeptideAtlasiQ9BZV2
PRIDEiQ9BZV2
ProteomicsDBi79906

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, 12 interactors
MINTiQ9BZV2
STRINGi9606.ENSP00000258403

Structurei

3D structure databases

ProteinModelPortaliQ9BZV2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR002666 Folate_carrier
IPR036259 MFS_trans_sf
IPR028337 ThTr-2
PANTHERiPTHR10686 PTHR10686, 1 hit
PfamiView protein in Pfam
PF01770 Folate_carrier, 1 hit
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 dbSNP:rs121917882EnsemblClinVar.1
Natural variantiVAR_061864174V → I. Corresponds to variant dbSNP:rs59736804EnsemblClinVar.1
Natural variantiVAR_052405350V → A. Corresponds to variant dbSNP:rs34507036EnsemblClinVar.1
Natural variantiVAR_025993422T → 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
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
ENST00000644224; ENSP00000495385; ENSG00000135917
GeneIDi80704
KEGGihsa:80704
UCSCiuc002vpi.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiS19A3_HUMAN
AccessioniPrimary (citable) accession number: Q9BZV2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: June 1, 2001
Last modified: July 18, 2018
This is version 136 of the entry and version 1 of the sequence. See 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

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