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UniProtKB - Q9BZV2 (S19A3_HUMAN)

Protein

Thiamine transporter 2

Gene

SLC19A3

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processTransport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-196819 Vitamin B1 (thiamin) metabolism

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9BZV2

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.48.1.4 the reduced folate carrier (rfc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Thiamine transporter 2
Short name:
ThTr-2
Short name:
ThTr2
Alternative name(s):
Solute carrier family 19 member 3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC19A3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000135917.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:16266 SLC19A3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606152 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BZV2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 7CytoplasmicSequence analysis7
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...DisGeNETi		80704

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SLC19A3

MalaCards human disease database

More...MalaCardsi		SLC19A3
MIMi607483 phenotype

Open Targets

More...OpenTargetsi		ENSG00000135917

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		65284 Biotin-thiamine-responsive basal ganglia disease
263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
255241 Leigh syndrome with leukodystrophy
199348 Thiamine-responsive encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA38397

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00151 L-Cysteine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC19A3

Domain mapping of disease mutations (DMDM)

More...DMDMi		74733486

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002326561 – 496Thiamine transporter 2Add BLAST496

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi45N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi166N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BZV2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BZV2

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9BZV2

PeptideAtlas

More...PeptideAtlasi		Q9BZV2

PRoteomics IDEntifications database

More...PRIDEi		Q9BZV2

ProteomicsDB human proteome resource

More...ProteomicsDBi		79906

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BZV2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9BZV2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000135917 Expressed in 120 organ(s), highest expression level in adipose tissue of abdominal region

CleanEx database of gene expression profiles

More...CleanExi		HS_SLC19A3

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BZV2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BZV2 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA038898

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		123266, 5 interactors

Protein interaction database and analysis system

More...IntActi		Q9BZV2, 12 interactors

Molecular INTeraction database

More...MINTi		Q9BZV2

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000258403

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q9BZV2

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3810 Eukaryota
ENOG410XT34 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154670

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000001583

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG054198

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BZV2

KEGG Orthology (KO)

More...KOi		K14610

Identification of Orthologs from Complete Genome Data

More...OMAi		QDSSIYN

Database of Orthologous Groups

More...OrthoDBi		EOG091G0BSJ

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BZV2

TreeFam database of animal gene trees

More...TreeFami		TF313684

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002666 Folate_carrier
IPR036259 MFS_trans_sf
IPR028337 ThTr-2

The PANTHER Classification System

More...PANTHERi		PTHR10686 PTHR10686, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01770 Folate_carrier, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF028739 Folate_carrier, 1 hit
PIRSF500795 Thiamine_transporter_2, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF103473 SSF103473, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00806 rfc, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 9 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB102651C205F0F16
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YHG5A0A2R8YHG5_HUMAN
Thiamine transporter 2
SLC19A3
508Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9IZI1C9IZI1_HUMAN
Thiamine transporter 2
SLC19A3
229Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B8ZZ39B8ZZ39_HUMAN
Thiamine transporter 2
SLC19A3
54Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B8ZZW1B8ZZW1_HUMAN
Thiamine transporter 2
SLC19A3
92Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EM61E7EM61_HUMAN
Thiamine transporter 2
SLC19A3
56Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J4J5C9J4J5_HUMAN
Thiamine transporter 2
SLC19A3
64Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YFC5A0A2R8YFC5_HUMAN
Thiamine transporter 2
SLC19A3
286Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y655A0A2R8Y655_HUMAN
Thiamine transporter 2
SLC19A3
60Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y694A0A2R8Y694_HUMAN
Thiamine transporter 2
SLC19A3
56Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF271633 mRNA Translation: AAG53879.1
AF283317 mRNA Translation: AAK69539.1
AC064853 Genomic DNA Translation: AAX93157.1
BC032014 mRNA Translation: AAH32014.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2468.1

NCBI Reference Sequences

More...RefSeqi		NP_079519.1, NM_025243.3
XP_011510234.1, XM_011511932.1
XP_011510235.1, XM_011511933.1

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.221597

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000258403; ENSP00000258403; ENSG00000135917
ENST00000644224; ENSP00000495385; ENSG00000135917

Database of genes from NCBI RefSeq genomes

More...GeneIDi		80704

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:80704

UCSC genome browser

More...UCSCi		uc002vpi.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS2468.1
RefSeqiNP_079519.1, NM_025243.3
XP_011510234.1, XM_011511932.1
XP_011510235.1, XM_011511933.1
UniGeneiHs.221597

3D structure databases

ProteinModelPortaliQ9BZV2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123266, 5 interactors
IntActiQ9BZV2, 12 interactors
MINTiQ9BZV2
STRINGi9606.ENSP00000258403

Chemistry databases

DrugBankiDB00151 L-Cysteine

Protein family/group databases

TCDBi2.A.48.1.4 the reduced folate carrier (rfc) family

PTM databases

iPTMnetiQ9BZV2
PhosphoSitePlusiQ9BZV2

Polymorphism and mutation databases

BioMutaiSLC19A3
DMDMi74733486

Proteomic databases

EPDiQ9BZV2
MaxQBiQ9BZV2
PaxDbiQ9BZV2
PeptideAtlasiQ9BZV2
PRIDEiQ9BZV2
ProteomicsDBi79906

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		80704
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258403; ENSP00000258403; ENSG00000135917
ENST00000644224; ENSP00000495385; ENSG00000135917
GeneIDi80704
KEGGihsa:80704
UCSCiuc002vpi.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		80704
DisGeNETi80704
EuPathDBiHostDB:ENSG00000135917.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC19A3
GeneReviewsiSLC19A3
HGNCiHGNC:16266 SLC19A3
HPAiHPA038898
MalaCardsiSLC19A3
MIMi606152 gene
607483 phenotype
neXtProtiNX_Q9BZV2
OpenTargetsiENSG00000135917
Orphaneti65284 Biotin-thiamine-responsive basal ganglia disease
263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
255241 Leigh syndrome with leukodystrophy
199348 Thiamine-responsive encephalopathy
PharmGKBiPA38397

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3810 Eukaryota
ENOG410XT34 LUCA
GeneTreeiENSGT00940000154670
HOGENOMiHOG000001583
HOVERGENiHBG054198
InParanoidiQ9BZV2
KOiK14610
OMAiQDSSIYN
OrthoDBiEOG091G0BSJ
PhylomeDBiQ9BZV2
TreeFamiTF313684

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SLC19A3 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SLC19A3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		80704

Protein Ontology

More...PROi		PR:Q9BZV2

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000135917 Expressed in 120 organ(s), highest expression level in adipose tissue of abdominal region
CleanExiHS_SLC19A3
ExpressionAtlasiQ9BZV2 baseline and differential
GenevisibleiQ9BZV2 HS

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, 1 hit
TIGRFAMsiTIGR00806 rfc, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiS19A3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BZV2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: June 1, 2001
Last modified: December 5, 2018
This is version 139 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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