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Protein

Thiamine transporter 1

Gene

Slc19a2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

High-affinity transporter for the intake of thiamine.5 Publications

GO - Molecular functioni

  • thiamine transmembrane transporter activity Source: MGI
  • thiamine uptake transmembrane transporter activity Source: BHF-UCL

GO - Biological processi

  • thiamine transport Source: MGI

Keywordsi

Biological processTransport

Enzyme and pathway databases

ReactomeiR-MMU-196819. Vitamin B1 (thiamin) metabolism.

Names & Taxonomyi

Protein namesi
Recommended name:
Thiamine transporter 11 Publication
Short name:
ThTr-11 Publication
Alternative name(s):
Solute carrier family 19 member 2Curated
Gene namesi
Name:Slc19a21 PublicationImported
OrganismiMus musculus (Mouse)Imported
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 1

Organism-specific databases

MGIiMGI:1928761. Slc19a2.

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 – 28CytoplasmicCuratedAdd BLAST28
Transmembranei29 – 46HelicalSequence analysisAdd BLAST18
Topological domaini47 – 71ExtracellularCuratedAdd BLAST25
Transmembranei72 – 92HelicalSequence analysisAdd BLAST21
Topological domaini93 – 105CytoplasmicCuratedAdd BLAST13
Transmembranei106 – 126HelicalSequence analysisAdd BLAST21
Topological domaini127 – 128ExtracellularCurated2
Transmembranei129 – 149HelicalSequence analysisAdd BLAST21
Topological domaini150 – 164CytoplasmicCuratedAdd BLAST15
Transmembranei165 – 185HelicalSequence analysisAdd BLAST21
Topological domaini186ExtracellularCurated1
Transmembranei187 – 207HelicalSequence analysisAdd BLAST21
Topological domaini208 – 295CytoplasmicCuratedAdd BLAST88
Transmembranei296 – 316HelicalSequence analysisAdd BLAST21
Topological domaini317 – 334ExtracellularCuratedAdd BLAST18
Transmembranei335 – 355HelicalSequence analysisAdd BLAST21
Topological domaini356 – 360CytoplasmicCurated5
Transmembranei361 – 381HelicalSequence analysisAdd BLAST21
Topological domaini382 – 386ExtracellularCurated5
Transmembranei387 – 407HelicalSequence analysisAdd BLAST21
Topological domaini408 – 423CytoplasmicCuratedAdd BLAST16
Transmembranei424 – 444HelicalSequence analysisAdd BLAST21
Topological domaini445 – 456ExtracellularCuratedAdd BLAST12
Transmembranei457 – 477HelicalSequence analysisAdd BLAST21
Topological domaini478 – 498CytoplasmicCuratedAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Disruption phenotypei

Males are infertile with reduced testis size and aspermia (PubMed:14567973, PubMed:14738878). Spermatogenesis fails at the pachytene spermatid stage with apoptosis of germ cells (PubMed:14567973, PubMed:14738878). When fed on a thiamine-free diet, animals develop additional phenotypes including diabetes mellitus, profound hearing loss, and defective hematopoiesis (PubMed:12393806, PubMed:14567973, PubMed:16642288). Pancreatic morphology appears to be normal although insulin secretion is significantly impaired (PubMed:12393806). Erythroid precursors in the bone marrow are almost completely absent leading to loss of reticulocytes in the peripheral blood (PubMed:14567973). The hearing loss phenotype is specifically associated with loss of cochlear inner hair cells (PubMed:16642288). These phenotypes can be reversed in many cases by re-introduction of a high thiamine diet (PubMed:12393806, PubMed:14567973, PubMed:16642288).4 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00004411051 – 498Thiamine transporter 1Add BLAST498

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineBy similarity1
Glycosylationi63N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation1
Modified residuei222PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ9EQN9.
PaxDbiQ8BRH5.
PeptideAtlasiQ8BRH5.

Expressioni

Tissue specificityi

Expressed in cochlear hair cells and duodenum (at protein level) (PubMed:11592824). Detected in pancreatic acinar cells (at protein level) (PubMed:22194418). Also expressed strongly in pancreatic islet cells (PubMed:22194418). Isoform 1: Very highly expressed in liver, and also detected at lower levels in heart, testis, kidney, brain and spleen (PubMed:11386850, PubMed:12031504). Isoform 2: Expressed at low levels in liver and spleen (PubMed:12031504).4 Publications

Developmental stagei

At embryonic stage E16.5 detected in intestinal enterocytes, pancreatic acinar cells, and cochlear hair cells (at protein level). In newborn mice, detected in brain, kidney, liver and intestine (at protein level).1 Publication

Gene expression databases

BgeeiENSMUSG00000040918.

Interactioni

Protein-protein interaction databases

MINTiMINT-4085121.
STRINGi10090.ENSMUSP00000037561.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3810. Eukaryota.
ENOG410XT34. LUCA.
GeneTreeiENSGT00510000046382.
HOGENOMiHOG000001583.
HOVERGENiHBG054198.
KOiK14610.
OMAiLVRYKPV.
OrthoDBiEOG091G0BSJ.
TreeFamiTF313684.

Family and domain databases

InterProiView protein in InterPro
IPR002666. Folate_carrier.
IPR020846. MFS_dom.
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. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9EQN9-1) [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
MDVPARVSRR AAAAAARMLL RTARVPRECW FLPTALLCAY GFFANLRPSE
60 70 80 90 100
PFLTPYLLGP DKNLTERQVY NEIYPVWTYS YLLLLFPVFL ATDYLRYKPV
110 120 130 140 150
ILLQGLSLIV TWFMLLYAQG LLAIQFLEFF YGIATATEIA YYSYIYTVVD
160 170 180 190 200
LGMYQKVTSY CRSATLVGFT VGSVLGQILV SVVGWSLFSL NVISLTCVSV
210 220 230 240 250
AFAVAWFLPM PQKSLFFHHI PSSCHGVNGL KVQNGGIVTD TPAANHLPGW
260 270 280 290 300
EDIESKIPLN LDEPPVEEPE EPKPDRLRVF RVLWNDFLMC YSSRPLLCWS
310 320 330 340 350
VWWALSTCGY FQVVNYAQGL WEKVMPSQNA DIYNGGVEAV STLLGASAVF
360 370 380 390 400
AVGYIKLSWS TWGEMTLFLC SLLIAAAVYV MDTVQSIWVC YASYVVFRII
410 420 430 440 450
YMVLITIATF QIAANLSMER YALVFGVNTF IALALQTLLT LIVVDARGLG
460 470 480 490
LCITTQFLIY ASYFAAISVV FLANGIVSII KKCRKQEDPS SSPQASTS
Length:498
Mass (Da):55,676
Last modified:March 1, 2001 - v1
Checksum:i4B892FE1636D0F34
GO
Isoform 2 (identifier: Q9EQN9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     232-269: Missing.

Show »
Length:460
Mass (Da):51,602
Checksum:i18397F23E962BD7E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti394Y → C in BAC32108 (PubMed:16141072).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_059029232 – 269Missing in isoform 2. CuratedAdd BLAST38

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF224341 Genomic DNA. Translation: AAL11497.1.
AF179403 mRNA. Translation: AAG43424.1.
AF360396 mRNA. Translation: AAL30451.1.
AF216204 mRNA. Translation: AAK33067.1.
AF326916 mRNA. Translation: AAL85635.1.
AF418986 mRNA. Translation: AAM47550.1.
AK044825 mRNA. Translation: BAC32108.1.
AC105161 Genomic DNA. No translation available.
CH466520 Genomic DNA. Translation: EDL39259.1.
BC034659 mRNA. Translation: AAH34659.1.
RefSeqiNP_001263384.1. NM_001276455.1.
NP_473428.1. NM_054087.3.
UniGeneiMm.35444.

Genome annotation databases

EnsembliENSMUST00000044021; ENSMUSP00000037561; ENSMUSG00000040918. [Q9EQN9-1]
ENSMUST00000159230; ENSMUSP00000123870; ENSMUSG00000040918. [Q9EQN9-2]
GeneIDi116914.
KEGGimmu:116914.
UCSCiuc007did.2. mouse. [Q9EQN9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiS19A2_MOUSE
AccessioniPrimary (citable) accession number: Q9EQN9
Secondary accession number(s): Q8BRH5, Q8R4Y1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2017
Last sequence update: March 1, 2001
Last modified: September 27, 2017
This is version 122 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families