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Q9BZV2

- S19A3_HUMAN

UniProt

Q9BZV2 - S19A3_HUMAN

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Protein

Thiamine transporter 2

Gene

SLC19A3

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

Functioni

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

GO - Molecular functioni

  1. thiamine uptake transmembrane transporter activity Source: BHF-UCL

GO - Biological processi

  1. small molecule metabolic process Source: Reactome
  2. thiamine-containing compound metabolic process Source: Reactome
  3. thiamine transmembrane transport Source: GOC
  4. vitamin metabolic process Source: Reactome
  5. water-soluble vitamin metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

ReactomeiREACT_11117. Vitamin B1 (thiamin) metabolism.

Protein family/group databases

TCDBi2.A.48.2.3. 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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:16266. SLC19A3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77CytoplasmicSequence Analysis
Transmembranei8 – 2821HelicalSequence AnalysisAdd
BLAST
Topological domaini29 – 5325ExtracellularSequence AnalysisAdd
BLAST
Transmembranei54 – 7421HelicalSequence AnalysisAdd
BLAST
Topological domaini75 – 817CytoplasmicSequence Analysis
Transmembranei82 – 10221HelicalSequence AnalysisAdd
BLAST
Topological domaini103 – 1108ExtracellularSequence Analysis
Transmembranei111 – 13121HelicalSequence AnalysisAdd
BLAST
Topological domaini132 – 14413CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei145 – 16521HelicalSequence AnalysisAdd
BLAST
Topological domaini166 – 1694ExtracellularSequence Analysis
Transmembranei170 – 19021HelicalSequence AnalysisAdd
BLAST
Topological domaini191 – 28292CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei283 – 30321HelicalSequence AnalysisAdd
BLAST
Topological domaini304 – 31613ExtracellularSequence AnalysisAdd
BLAST
Transmembranei317 – 33721HelicalSequence AnalysisAdd
BLAST
Topological domaini338 – 3425CytoplasmicSequence Analysis
Transmembranei343 – 36321HelicalSequence AnalysisAdd
BLAST
Topological domaini364 – 37512ExtracellularSequence AnalysisAdd
BLAST
Transmembranei376 – 39621HelicalSequence AnalysisAdd
BLAST
Topological domaini397 – 4059CytoplasmicSequence Analysis
Transmembranei406 – 42621HelicalSequence AnalysisAdd
BLAST
Topological domaini427 – 4348ExtracellularSequence Analysis
Transmembranei435 – 45521HelicalSequence AnalysisAdd
BLAST
Topological domaini456 – 49641CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB
  2. 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) [MIM:607483]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti23 – 231G → V in THMD2. 1 Publication
VAR_025992
Natural varianti422 – 4221T → A in THMD2. 1 Publication
VAR_025993

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi607483. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 496496Thiamine transporter 2PRO_0000232656Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi45 – 451N-linked (GlcNAc...)1 Publication
Glycosylationi166 – 1661N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9BZV2.
PaxDbiQ9BZV2.
PRIDEiQ9BZV2.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9BZV2.
CleanExiHS_SLC19A3.
ExpressionAtlasiQ9BZV2. baseline and differential.
GenevestigatoriQ9BZV2.

Organism-specific databases

HPAiHPA038898.

Interactioni

Protein-protein interaction databases

BioGridi123266. 3 interactions.
IntActiQ9BZV2. 4 interactions.
MINTiMINT-5006585.
STRINGi9606.ENSP00000258403.

Structurei

3D structure databases

ProteinModelPortaliQ9BZV2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG241030.
GeneTreeiENSGT00510000046382.
HOGENOMiHOG000001583.
HOVERGENiHBG054198.
InParanoidiQ9BZV2.
KOiK14610.
OMAiDIWACYA.
OrthoDBiEOG76739R.
PhylomeDBiQ9BZV2.
TreeFamiTF313684.

Family and domain databases

InterProiIPR002666. Folate_carrier.
IPR016196. MFS_dom_general_subst_transpt.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti23 – 231G → V in THMD2. 1 Publication
VAR_025992
Natural varianti174 – 1741V → I.
Corresponds to variant rs59736804 [ dbSNP | Ensembl ].
VAR_061864
Natural varianti350 – 3501V → A.
Corresponds to variant rs34507036 [ dbSNP | Ensembl ].
VAR_052405
Natural varianti422 – 4221T → A in THMD2. 1 Publication
VAR_025993

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.
UniGeneiHs.221597.

Genome annotation databases

EnsembliENST00000258403; ENSP00000258403; ENSG00000135917.
ENST00000425817; ENSP00000397393; ENSG00000135917.
GeneIDi80704.
KEGGihsa:80704.
UCSCiuc002vpi.3. human.

Polymorphism databases

DMDMi74733486.

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 .
CCDSi CCDS2468.1.
RefSeqi NP_079519.1. NM_025243.3.
UniGenei Hs.221597.

3D structure databases

ProteinModelPortali Q9BZV2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123266. 3 interactions.
IntActi Q9BZV2. 4 interactions.
MINTi MINT-5006585.
STRINGi 9606.ENSP00000258403.

Chemistry

DrugBanki DB00151. L-Cysteine.
GuidetoPHARMACOLOGYi 1016.

Protein family/group databases

TCDBi 2.A.48.2.3. the reduced folate carrier (rfc) family.

Polymorphism databases

DMDMi 74733486.

Proteomic databases

MaxQBi Q9BZV2.
PaxDbi Q9BZV2.
PRIDEi Q9BZV2.

Protocols and materials databases

DNASUi 80704.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000258403 ; ENSP00000258403 ; ENSG00000135917 .
ENST00000425817 ; ENSP00000397393 ; ENSG00000135917 .
GeneIDi 80704.
KEGGi hsa:80704.
UCSCi uc002vpi.3. human.

Organism-specific databases

CTDi 80704.
GeneCardsi GC02M228513.
GeneReviewsi SLC19A3.
HGNCi HGNC:16266. SLC19A3.
HPAi HPA038898.
MIMi 606152. gene.
607483. phenotype.
neXtProti NX_Q9BZV2.
Orphaneti 65284. 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.
PharmGKBi PA38397.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG241030.
GeneTreei ENSGT00510000046382.
HOGENOMi HOG000001583.
HOVERGENi HBG054198.
InParanoidi Q9BZV2.
KOi K14610.
OMAi DIWACYA.
OrthoDBi EOG76739R.
PhylomeDBi Q9BZV2.
TreeFami TF313684.

Enzyme and pathway databases

Reactomei REACT_11117. Vitamin B1 (thiamin) metabolism.

Miscellaneous databases

ChiTaRSi SLC19A3. human.
GeneWikii SLC19A3.
GenomeRNAii 80704.
NextBioi 70999.
PROi Q9BZV2.
SOURCEi Search...

Gene expression databases

Bgeei Q9BZV2.
CleanExi HS_SLC19A3.
ExpressionAtlasi Q9BZV2. baseline and differential.
Genevestigatori Q9BZV2.

Family and domain databases

InterProi IPR002666. Folate_carrier.
IPR016196. MFS_dom_general_subst_transpt.
IPR028337. ThTr-2.
[Graphical view ]
PANTHERi PTHR10686. PTHR10686. 1 hit.
Pfami PF01770. Folate_carrier. 1 hit.
[Graphical view ]
PIRSFi PIRSF028739. Folate_carrier. 1 hit.
PIRSF500795. Thiamine_transporter_2. 1 hit.
SUPFAMi SSF103473. SSF103473. 2 hits.
TIGRFAMsi TIGR00806. rfc. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes."
    Eudy J.D., Spiegelstein O., Barber R.C., Wlodarczyk B.J., Talbot J., Finnell R.H.
    Mol. Genet. Metab. 71:581-590(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Tissue: Placenta.
  2. "Molecular cloning of an orphan transporter: a new member of the folate transporter gene family."
    Wang H., Huang W., Srinivas S.R., Sugawara M., Devoe L.D., Leibach F.H., Ganapathy V., Prasad P.D.
    Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Placenta.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  5. Cited for: FUNCTION.
  6. "SLC19: the folate/thiamine transporter family."
    Ganapathy V., Smith S.B., Prasad P.D.
    Pflugers Arch. 447:641-646(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  7. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-45.
    Tissue: Liver.
  8. "Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3."
    Zeng W.-Q., Al-Yamani E., Acierno J.S. Jr., Slaugenhaupt S.A., Gillis T., MacDonald M.E., Ozand P.T., Gusella J.F.
    Am. J. Hum. Genet. 77:16-26(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS THMD2 VAL-23 AND ALA-422, TISSUE SPECIFICITY.

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: October 29, 2014
This is version 107 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

External Data

Dasty 3