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UniProtKB - O60779 (S19A2_HUMAN)

Entry version 181 (12 Aug 2020)
Sequence version 2 (24 Jan 2001)
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Protein

Thiamine transporter 1

Gene

SLC19A2

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

High-affinity transporter for the intake of thiamine.2 Publications

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O60779

Reactome - a knowledgebase of biological pathways and processes

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

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		O60779

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.48.1.2, 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%5Fand%5Ftaxonomy%5Fsection">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 1
Short name:
ThTr-1
Short name:
ThTr1
Alternative name(s):
Solute carrier family 19 member 2
Thiamine carrier 1
Short name:
TC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:SLC19A2
Synonyms:THT1, TRMA
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000117479.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:10938, SLC19A2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603941, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O60779

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 – 28CytoplasmicSequence analysisAdd BLAST28
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>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

<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-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.
Related information in OMIM
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_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

DisGeNET

More...DisGeNETi		10560

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

More...GeneReviewsi		SLC19A2

MalaCards human disease database

More...MalaCardsi		SLC19A2
MIMi249270, phenotype

Open Targets

More...OpenTargetsi		ENSG00000117479

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

More...Orphaneti		49827, Thiamine-responsive megaloblastic anemia syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35825

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O60779, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3079

Drug and drug target database

More...DrugBanki		DB00152, Thiamine

DrugCentral

More...DrugCentrali		O60779

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC19A2

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001786631 – 497Thiamine transporter 1Add BLAST497

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi63N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei222PhosphoserineCombined sources1
Glycosylationi314N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O60779

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O60779

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O60779

MaxQB - The MaxQuant DataBase

More...MaxQBi		O60779

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

More...PaxDbi		O60779

PeptideAtlas

More...PeptideAtlasi		O60779

PRoteomics IDEntifications database

More...PRIDEi		O60779

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		49594 [O60779-1]
49595 [O60779-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O60779, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O60779

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

More...PhosphoSitePlusi		O60779

<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

Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000117479, Expressed in secondary oocyte and 231 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O60779, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O60779, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000117479, Tissue enhanced (skeletal)

<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		115811, 43 interactors

Protein interaction database and analysis system

More...IntActi		O60779, 30 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000236137

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		O60779

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O60779, protein

<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

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183022

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_036909_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O60779

KEGG Orthology (KO)

More...KOi		K14610

Identification of Orthologs from Complete Genome Data

More...OMAi		VCYSSRP

Database for complete collections of gene phylogenies

More...PhylomeDBi		O60779

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
IPR028338, ThTr-1

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
PIRSF500794, Thiamine_transporter_1, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF103473, SSF103473, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<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: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

<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 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:

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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_03646769 – 269Missing in isoform 2. 1 PublicationAdd BLAST201

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
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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1280.1 [O60779-1]
CCDS81398.1 [O60779-2]

NCBI Reference Sequences

More...RefSeqi		NP_001306596.1, NM_001319667.1 [O60779-2]
NP_008927.1, NM_006996.2 [O60779-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000236137; ENSP00000236137; ENSG00000117479 [O60779-1]
ENST00000367804; ENSP00000356778; ENSG00000117479 [O60779-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10560

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10560

UCSC genome browser

More...UCSCi		uc001gge.5, human [O60779-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
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]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi115811, 43 interactors
IntActiO60779, 30 interactors
STRINGi9606.ENSP00000236137

Chemistry databases

BindingDBiO60779
ChEMBLiCHEMBL3079
DrugBankiDB00152, Thiamine
DrugCentraliO60779

Protein family/group databases

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

PTM databases

GlyGeniO60779, 2 sites
iPTMnetiO60779
PhosphoSitePlusiO60779

Polymorphism and mutation databases

BioMutaiSLC19A2

Proteomic databases

EPDiO60779
jPOSTiO60779
MassIVEiO60779
MaxQBiO60779
PaxDbiO60779
PeptideAtlasiO60779
PRIDEiO60779
ProteomicsDBi49594 [O60779-1]
49595 [O60779-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1655, 89 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10560
DisGeNETi10560
EuPathDBiHostDB:ENSG00000117479.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC19A2
GeneReviewsiSLC19A2
HGNCiHGNC:10938, SLC19A2
HPAiENSG00000117479, Tissue enhanced (skeletal)
MalaCardsiSLC19A2
MIMi249270, phenotype
603941, gene
neXtProtiNX_O60779
OpenTargetsiENSG00000117479
Orphaneti49827, Thiamine-responsive megaloblastic anemia syndrome
PharmGKBiPA35825

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3810, Eukaryota
GeneTreeiENSGT00950000183022
HOGENOMiCLU_036909_0_1_1
InParanoidiO60779
KOiK14610
OMAiVCYSSRP
PhylomeDBiO60779
TreeFamiTF313684

Enzyme and pathway databases

PathwayCommonsiO60779
ReactomeiR-HSA-196819, Vitamin B1 (thiamin) metabolism
SABIO-RKiO60779

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10560, 21 hits in 872 CRISPR screens

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

More...ChiTaRSi		SLC19A2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SLC19A2

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

More...GenomeRNAii		10560
PharosiO60779, Tbio

Protein Ontology

More...PROi		PR:O60779
RNActiO60779, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000117479, Expressed in secondary oocyte and 231 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiS19A2_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: O60779
Secondary accession number(s): B2R9H0
, B4E1X4, Q8WV87, Q9UBL7, Q9UKJ2, Q9UN31, Q9UN43
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 24, 2001
Last modified: August 12, 2020
This is version 181 of the entry and version 2 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

Reference proteome

Documents

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