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Protein

Thiamine transporter 1

Gene

SLC19A2

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

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

Keywordsi

Biological processTransport

Enzyme and pathway databases

ReactomeiR-HSA-196819 Vitamin B1 (thiamin) metabolism
SABIO-RKiO60779

Protein family/group databases

TCDBi2.A.48.1.2 the reduced folate carrier (rfc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Thiamine transporter 1
Short 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000117479.12
HGNCiHGNC:10938 SLC19A2
MIMi603941 gene
neXtProtiNX_O60779

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 – 28CytoplasmicSequence analysisAdd BLAST28
Transmembranei29 – 46HelicalSequence analysisAdd BLAST18
Topological domaini47 – 72ExtracellularSequence analysisAdd BLAST26
Transmembranei73 – 91HelicalSequence analysisAdd BLAST19
Topological domaini92 – 99CytoplasmicSequence analysis8
Transmembranei100 – 118HelicalSequence analysisAdd BLAST19
Topological domaini119 – 128ExtracellularSequence analysis10
Transmembranei129 – 149HelicalSequence analysisAdd BLAST21
Topological domaini150 – 165CytoplasmicSequence analysisAdd BLAST16
Transmembranei166 – 185HelicalSequence analysisAdd BLAST20
Topological domaini186 – 191ExtracellularSequence analysis6
Transmembranei192 – 208HelicalSequence analysisAdd BLAST17
Topological domaini209 – 285CytoplasmicSequence analysisAdd BLAST77
Transmembranei286 – 310HelicalSequence analysisAdd BLAST25
Topological domaini311 – 337ExtracellularSequence analysisAdd BLAST27
Transmembranei338 – 354HelicalSequence analysisAdd BLAST17
Topological domaini355 – 363CytoplasmicSequence analysis9
Transmembranei364 – 380HelicalSequence analysisAdd BLAST17
Topological domaini381 – 386ExtracellularSequence analysis6
Transmembranei387 – 409HelicalSequence analysisAdd BLAST23
Topological domaini410 – 419CytoplasmicSequence analysis10
Transmembranei420 – 443HelicalSequence analysisAdd BLAST24
Topological domaini444 – 455ExtracellularSequence analysisAdd BLAST12
Transmembranei456 – 479HelicalSequence analysisAdd BLAST24
Topological domaini480 – 497CytoplasmicSequence analysisAdd BLAST18

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Thiamine-responsive megaloblastic anemia syndrome (TRMA)2 Publications
The disease is caused by mutations 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.
See also OMIM:249270
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01024993D → H in TRMA. 1 Publication1
Natural variantiVAR_010250143S → F in TRMA. 1 PublicationCorresponds to variant dbSNP:rs761957186EnsemblClinVar.1
Natural variantiVAR_010248172G → D in TRMA. 1 PublicationCorresponds to variant dbSNP:rs28937595EnsemblClinVar.1

Keywords - Diseasei

Deafness, Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNETi10560
GeneReviewsiSLC19A2
MalaCardsiSLC19A2
MIMi249270 phenotype
OpenTargetsiENSG00000117479
Orphaneti49827 Thiamine-responsive megaloblastic anemia syndrome
PharmGKBiPA35825

Chemistry databases

ChEMBLiCHEMBL3079
DrugBankiDB00152 Thiamine

Polymorphism and mutation databases

BioMutaiSLC19A2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001786631 – 497Thiamine transporter 1Add BLAST497

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Glycosylationi63N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei222PhosphoserineCombined sources1
Glycosylationi314N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiO60779
MaxQBiO60779
PaxDbiO60779
PeptideAtlasiO60779
PRIDEiO60779
ProteomicsDBi49594
49595 [O60779-2]

PTM databases

iPTMnetiO60779
PhosphoSitePlusiO60779

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

BgeeiENSG00000117479 Expressed in 219 organ(s), highest expression level in secondary oocyte
CleanExiHS_SLC19A2
ExpressionAtlasiO60779 baseline and differential
GenevisibleiO60779 HS

Organism-specific databases

HPAiHPA006119
HPA016599

Interactioni

Protein-protein interaction databases

BioGridi115811, 42 interactors
IntActiO60779, 1 interactor
STRINGi9606.ENSP00000236137

Chemistry databases

BindingDBiO60779

Structurei

3D structure databases

ProteinModelPortaliO60779
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3810 Eukaryota
ENOG410XT34 LUCA
GeneTreeiENSGT00510000046382
HOVERGENiHBG054198
InParanoidiO60779
KOiK14610
OMAiLVRYKPV
OrthoDBiEOG091G0BSJ
PhylomeDBiO60779
TreeFamiTF313684

Family and domain databases

InterProiView protein in InterPro
IPR002666 Folate_carrier
IPR036259 MFS_trans_sf
IPR028338 ThTr-1
PANTHERiPTHR10686 PTHR10686, 1 hit
PfamiView protein in Pfam
PF01770 Folate_carrier, 1 hit
PIRSFiPIRSF028739 Folate_carrier, 1 hit
PIRSF500794 Thiamine_transporter_1, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:497
Mass (Da):55,400
Last modified:January 24, 2001 - v2
Checksum:i87A993E2B6FBFE96
GO
Isoform 2 (identifier: O60779-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     69-269: Missing.

Show »
Length:296
Mass (Da):32,858
Checksum:iA8C5CDFF6D54540C
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y5B5A0A2R8Y5B5_HUMAN
Solute carrier family 19 (Thiamine ...
SLC19A2 hCG_38014
464Annotation score:

Sequence cautioni

The sequence BAG64936 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01024993D → H in TRMA. 1 Publication1
Natural variantiVAR_010250143S → F in TRMA. 1 PublicationCorresponds to variant dbSNP:rs761957186EnsemblClinVar.1
Natural variantiVAR_010248172G → D in TRMA. 1 PublicationCorresponds to variant dbSNP:rs28937595EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03646769 – 269Missing in isoform 2. 1 PublicationAdd BLAST201

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
CCDSiCCDS1280.1 [O60779-1]
CCDS81398.1 [O60779-2]
RefSeqiNP_001306596.1, NM_001319667.1 [O60779-2]
NP_008927.1, NM_006996.2 [O60779-1]
UniGeneiHs.30246

Genome annotation databases

EnsembliENST00000236137; ENSP00000236137; ENSG00000117479 [O60779-1]
ENST00000367804; ENSP00000356778; ENSG00000117479 [O60779-2]
ENST00000646527; ENSP00000495500; ENSG00000117479 [O60779-1]
GeneIDi10560
KEGGihsa:10560
UCSCiuc001gge.5 human [O60779-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS1280.1 [O60779-1]
CCDS81398.1 [O60779-2]
RefSeqiNP_001306596.1, NM_001319667.1 [O60779-2]
NP_008927.1, NM_006996.2 [O60779-1]
UniGeneiHs.30246

3D structure databases

ProteinModelPortaliO60779
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115811, 42 interactors
IntActiO60779, 1 interactor
STRINGi9606.ENSP00000236137

Chemistry databases

BindingDBiO60779
ChEMBLiCHEMBL3079
DrugBankiDB00152 Thiamine

Protein family/group databases

TCDBi2.A.48.1.2 the reduced folate carrier (rfc) family

PTM databases

iPTMnetiO60779
PhosphoSitePlusiO60779

Polymorphism and mutation databases

BioMutaiSLC19A2

Proteomic databases

EPDiO60779
MaxQBiO60779
PaxDbiO60779
PeptideAtlasiO60779
PRIDEiO60779
ProteomicsDBi49594
49595 [O60779-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000236137; ENSP00000236137; ENSG00000117479 [O60779-1]
ENST00000367804; ENSP00000356778; ENSG00000117479 [O60779-2]
ENST00000646527; ENSP00000495500; ENSG00000117479 [O60779-1]
GeneIDi10560
KEGGihsa:10560
UCSCiuc001gge.5 human [O60779-1]

Organism-specific databases

CTDi10560
DisGeNETi10560
EuPathDBiHostDB:ENSG00000117479.12
GeneCardsiSLC19A2
GeneReviewsiSLC19A2
HGNCiHGNC:10938 SLC19A2
HPAiHPA006119
HPA016599
MalaCardsiSLC19A2
MIMi249270 phenotype
603941 gene
neXtProtiNX_O60779
OpenTargetsiENSG00000117479
Orphaneti49827 Thiamine-responsive megaloblastic anemia syndrome
PharmGKBiPA35825
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3810 Eukaryota
ENOG410XT34 LUCA
GeneTreeiENSGT00510000046382
HOVERGENiHBG054198
InParanoidiO60779
KOiK14610
OMAiLVRYKPV
OrthoDBiEOG091G0BSJ
PhylomeDBiO60779
TreeFamiTF313684

Enzyme and pathway databases

ReactomeiR-HSA-196819 Vitamin B1 (thiamin) metabolism
SABIO-RKiO60779

Miscellaneous databases

ChiTaRSiSLC19A2 human
GeneWikiiSLC19A2
GenomeRNAii10560
PROiPR:O60779
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117479 Expressed in 219 organ(s), highest expression level in secondary oocyte
CleanExiHS_SLC19A2
ExpressionAtlasiO60779 baseline and differential
GenevisibleiO60779 HS

Family and domain databases

InterProiView protein in InterPro
IPR002666 Folate_carrier
IPR036259 MFS_trans_sf
IPR028338 ThTr-1
PANTHERiPTHR10686 PTHR10686, 1 hit
PfamiView protein in Pfam
PF01770 Folate_carrier, 1 hit
PIRSFiPIRSF028739 Folate_carrier, 1 hit
PIRSF500794 Thiamine_transporter_1, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiS19A2_HUMAN
AccessioniPrimary (citable) accession number: O60779
Secondary accession number(s): B2R9H0
, B4E1X4, Q8WV87, Q9UBL7, Q9UKJ2, Q9UN31, Q9UN43
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 24, 2001
Last modified: November 7, 2018
This is version 168 of the entry and version 2 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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