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Q9BZV2

- S19A3_HUMAN

UniProt

Q9BZV2 - S19A3_HUMAN

Protein

Thiamine transporter 2

Gene

SLC19A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB
    2. plasma membrane Source: Reactome

    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

    ArrayExpressiQ9BZV2.
    BgeeiQ9BZV2.
    CleanExiHS_SLC19A3.
    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...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 77CytoplasmicSequence Analysis
    Topological domaini29 – 5325ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini75 – 817CytoplasmicSequence Analysis
    Topological domaini103 – 1108ExtracellularSequence Analysis
    Topological domaini132 – 14413CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini166 – 1694ExtracellularSequence Analysis
    Topological domaini191 – 28292CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini304 – 31613ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini338 – 3425CytoplasmicSequence Analysis
    Topological domaini364 – 37512ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini397 – 4059CytoplasmicSequence Analysis
    Topological domaini427 – 4348ExtracellularSequence Analysis
    Topological domaini456 – 49641CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei54 – 7421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei82 – 10221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei111 – 13121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei145 – 16521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei170 – 19021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei283 – 30321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei317 – 33721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei343 – 36321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei376 – 39621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei406 – 42621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei435 – 45521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG241030.
    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

    MDCYRTSLSS SWIYPTVILC LFGFFSMMRP SEPFLIPYLS GPDKNLTSAE    50
    ITNEIFPVWT YSYLVLLLPV FVLTDYVRYK PVIILQGISF IITWLLLLFG 100
    QGVKTMQVVE FFYGMVTAAE VAYYAYIYSV VSPEHYQRVS GYCRSVTLAA 150
    YTAGSVLAQL LVSLANMSYF YLNVISLASV SVAFLFSLFL PMPKKSMFFH 200
    AKPSREIKKS SSVNPVLEET HEGEAPGCEE QKPTSEILST SGKLNKGQLN 250
    SLKPSNVTVD VFVQWFQDLK ECYSSKRLFY WSLWWAFATA GFNQVLNYVQ 300
    ILWDYKAPSQ DSSIYNGAVE AIATFGGAVA AFAVGYVKVN WDLLGELALV 350
    VFSVVNAGSL FLMHYTANIW ACYAGYLIFK SSYMLLITIA VFQIAVNLNV 400
    ERYALVFGIN TFIALVIQTI MTVIVVDQRG LNLPVSIQFL VYGSYFAVIA 450
    GIFLMRSMYI TYSTKSQKDV QSPAPSENPD VSHPEEESNI IMSTKL 496
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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

    ArrayExpressi Q9BZV2.
    Bgeei Q9BZV2.
    CleanExi HS_SLC19A3.
    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

    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 1, 2014
    This is version 106 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