Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 147 (31 Jul 2019)
Sequence version 4 (22 Nov 2005)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Solute carrier family 52, riboflavin transporter, member 3

Gene

SLC52A3

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

Transporter for riboflavin, which must be obtained as a nutrient via intestinal absorption (PubMed:20463145, PubMed:24264046, PubMed:22273710, PubMed:27702554). Riboflavin transport is Na+-independent at low pH but significantly reduced by Na+ depletion under neutral pH conditions (PubMed:24264046).4 Publications

Caution

It is uncertain whether Met-1 or Met-5 is the initiator.Curated

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN), flavin adenine dinucleotide (FAD), by methylene blue, and to a lesser extent by amiloride.2 Publications

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=0.98 µM for riboflavin1 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

    GO - Biological processi

    <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-196843 Vitamin B2 (riboflavin) metabolism

    Protein family/group databases

    Transport Classification Database

    More...
    TCDBi
    2.A.125.1.2 the eukaryotic riboflavin transporter (e-rft) 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:
    Solute carrier family 52, riboflavin transporter, member 3
    Alternative name(s):
    Riboflavin transporter 2
    Short name:
    hRFT2
    <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:SLC52A3
    Synonyms:C20orf54, RFT2, RFVT3
    <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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <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 20

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:16187 SLC52A3

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    613350 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9NQ40

    <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_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 – 2CytoplasmicSequence analysis2
    <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>Transmembranei3 – 23HelicalSequence analysisAdd BLAST21
    Topological domaini24 – 43ExtracellularSequence analysisAdd BLAST20
    Transmembranei44 – 64HelicalSequence analysisAdd BLAST21
    Topological domaini65 – 71CytoplasmicSequence analysis7
    Transmembranei72 – 92HelicalSequence analysisAdd BLAST21
    Topological domaini93 – 97ExtracellularSequence analysis5
    Transmembranei98 – 118HelicalSequence analysisAdd BLAST21
    Topological domaini119 – 137CytoplasmicSequence analysisAdd BLAST19
    Transmembranei138 – 158HelicalSequence analysisAdd BLAST21
    Topological domaini159 – 220ExtracellularSequence analysisAdd BLAST62
    Transmembranei221 – 241HelicalSequence analysisAdd BLAST21
    Topological domaini242 – 292CytoplasmicSequence analysisAdd BLAST51
    Transmembranei293 – 313HelicalSequence analysisAdd BLAST21
    Topological domaini314 – 335ExtracellularSequence analysisAdd BLAST22
    Transmembranei336 – 356HelicalSequence analysisAdd BLAST21
    Topological domaini357 – 359CytoplasmicSequence analysis3
    Transmembranei360 – 380HelicalSequence analysisAdd BLAST21
    Topological domaini381 – 396ExtracellularSequence analysisAdd BLAST16
    Transmembranei397 – 417HelicalSequence analysisAdd BLAST21
    Topological domaini418 – 427CytoplasmicSequence analysis10
    Transmembranei428 – 448HelicalSequence analysisAdd BLAST21
    Topological domaini449 – 469ExtracellularSequence analysisAdd BLAST21

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Membrane, Nucleus

    <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

    Brown-Vialetto-Van Laere syndrome 1 (BVVLS1)8 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA rare neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise.
    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_07742217W → R in BVVLS1; loss of riboflavin transport; no effect on localization to cell membrane; does not affect protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs797045190EnsemblClinVar.1
    Natural variantiVAR_07742321N → S in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport. 2 PublicationsCorresponds to variant dbSNP:rs199588390EnsemblClinVar.1
    Natural variantiVAR_07742428P → T in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs267606688EnsemblClinVar.1
    Natural variantiVAR_06369436E → K in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs267606686EnsemblClinVar.1
    Natural variantiVAR_07742558V → D in BVVLS1. 1 PublicationCorresponds to variant dbSNP:rs797045192EnsemblClinVar.1
    Natural variantiVAR_07742671E → K in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs267606683EnsemblClinVar.1
    Natural variantiVAR_063695132R → W in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs267606684EnsemblClinVar.1
    Natural variantiVAR_077427220P → H in BVVLS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs797045194EnsemblClinVar.1
    Natural variantiVAR_063696224F → L in BVVLS1. 1 PublicationCorresponds to variant dbSNP:rs267606685EnsemblClinVar.1
    Natural variantiVAR_077428266R → W in BVVLS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs370499474EnsemblClinVar.1
    Natural variantiVAR_077429312A → V in BVVLS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs752218005EnsemblClinVar.1
    Natural variantiVAR_077430319P → S in BVVLS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs797045195EnsemblClinVar.1
    Natural variantiVAR_077431330G → V in BVVLS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs797045196EnsemblClinVar.1
    Natural variantiVAR_077432375G → D in BVVLS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1219868273Ensembl.1
    Natural variantiVAR_063700413V → A in BVVLS1. 2 PublicationsCorresponds to variant dbSNP:rs267606687EnsemblClinVar.1
    Natural variantiVAR_063701457F → L in BVVLS1. 1 PublicationCorresponds to variant dbSNP:rs779750163Ensembl.1
    Fazio-Londe disease (FALOND)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles.
    Related information in OMIM

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi326C → A: No effect on cell surface localization. 1 Publication1
    Mutagenesisi386C → A: Abolishes cell surface localization. 1 Publication1
    Mutagenesisi455R → A: No effect on cell surface localization. 1 Publication1
    Mutagenesisi463C → A: Abolishes cell surface localization. 1 Publication1
    Mutagenesisi467C → A: Abolishes cell surface localization. 1 Publication1

    Keywords - Diseasei

    Deafness, Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    113278

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

    More...
    GeneReviewsi
    SLC52A3

    MalaCards human disease database

    More...
    MalaCardsi
    SLC52A3
    MIMi211500 phenotype
    211530 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000101276

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

    More...
    Orphaneti
    97229 Riboflavin transporter deficiency

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA25764

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    SLC52A3

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    82654931

    <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_00000426361 – 469Solute carrier family 52, riboflavin transporter, member 3Add BLAST469

    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>Glycosylationi94N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi168N-linked (GlcNAc...) asparagineSequence analysis1
    <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 residuei251PhosphoserineBy similarity1
    <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi386 ↔ 4631 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q9NQ40

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

    More...
    PaxDbi
    Q9NQ40

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9NQ40

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9NQ40

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    82078 [Q9NQ40-1]
    82079 [Q9NQ40-2]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9NQ40

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

    More...
    PhosphoSitePlusi
    Q9NQ40

    <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

    Predominantly expressed in testis. Highly expressed in small intestine and prostate.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000101276 Expressed in 131 organ(s), highest expression level in testis

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9NQ40 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA049391
    HPA059078

    <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

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000217254

    <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 riboflavin transporter family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG4255 Eukaryota
    ENOG410YE1U LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00390000003774

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000247012

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9NQ40

    KEGG Orthology (KO)

    More...
    KOi
    K14620

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    AMFLHFT

    Database of Orthologous Groups

    More...
    OrthoDBi
    757564at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9NQ40

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF314820

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR009357 Riboflavin_transptr

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR12929 PTHR12929, 1 hit

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF06237 DUF1011, 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>. 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_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 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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
    Isoform 1 (identifier: Q9NQ40-1) [UniParc]FASTAAdd to basket
    Also known as: SLC52A3a1 Publication

    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
    MAFLMHLLVC VFGMGSWVTI NGLWVELPLL VMELPEGWYL PSYLTVVIQL
    60 70 80 90 100
    ANIGPLLVTL LHHFRPSCLS EVPIIFTLLG VGTVTCIIFA FLWNMTSWVL
    110 120 130 140 150
    DGHHSIAFLV LTFFLALVDC TSSVTFLPFM SRLPTYYLTT FFVGEGLSGL
    160 170 180 190 200
    LPALVALAQG SGLTTCVNVT EISDSVPSPV PTRETDIAQG VPRALVSALP
    210 220 230 240 250
    GMEAPLSHLE SRYLPAHFSP LVFFLLLSIM MACCLVAFFV LQRQPRCWEA
    260 270 280 290 300
    SVEDLLNDQV TLHSIRPREE NDLGPAGTVD SSQGQGYLEE KAAPCCPAHL
    310 320 330 340 350
    AFIYTLVAFV NALTNGMLPS VQTYSCLSYG PVAYHLAATL SIVANPLASL
    360 370 380 390 400
    VSMFLPNRSL LFLGVLSVLG TCFGGYNMAM AVMSPCPLLQ GHWGGEVLIV
    410 420 430 440 450
    ASWVLFSGCL SYVKVMLGVV LRDLSRSALL WCGAAVQLGS LLGALLMFPL
    460
    VNVLRLFSSA DFCNLHCPA
    Length:469
    Mass (Da):50,805
    Last modified:November 22, 2005 - v4
    <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:i239ED67348C93739
    GO
    Isoform 2 (identifier: Q9NQ40-2) [UniParc]FASTAAdd to basket
    Also known as: SLC52A3b1 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         401-415: ASWVLFSGCLSYVKV → SIRPVGLLPLRTPHP
         416-469: Missing.

    Show »
    Length:415
    Mass (Da):45,043
    Checksum:i8E072208A8998A56
    GO

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti11V → D in BAF84395 (PubMed:14702039).Curated1
    Sequence conflicti199L → P in BAC11113 (PubMed:14702039).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07742217W → R in BVVLS1; loss of riboflavin transport; no effect on localization to cell membrane; does not affect protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs797045190EnsemblClinVar.1
    Natural variantiVAR_07742321N → S in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport. 2 PublicationsCorresponds to variant dbSNP:rs199588390EnsemblClinVar.1
    Natural variantiVAR_07742428P → T in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs267606688EnsemblClinVar.1
    Natural variantiVAR_06369436E → K in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs267606686EnsemblClinVar.1
    Natural variantiVAR_07742558V → D in BVVLS1. 1 PublicationCorresponds to variant dbSNP:rs797045192EnsemblClinVar.1
    Natural variantiVAR_07742671E → K in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs267606683EnsemblClinVar.1
    Natural variantiVAR_05356574I → M. Corresponds to variant dbSNP:rs35655964EnsemblClinVar.1
    Natural variantiVAR_063695132R → W in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs267606684EnsemblClinVar.1
    Natural variantiVAR_053566174D → G. Corresponds to variant dbSNP:rs6054614EnsemblClinVar.1
    Natural variantiVAR_077427220P → H in BVVLS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs797045194EnsemblClinVar.1
    Natural variantiVAR_063696224F → L in BVVLS1. 1 PublicationCorresponds to variant dbSNP:rs267606685EnsemblClinVar.1
    Natural variantiVAR_077428266R → W in BVVLS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs370499474EnsemblClinVar.1
    Natural variantiVAR_053567267P → L1 PublicationCorresponds to variant dbSNP:rs3746804EnsemblClinVar.1
    Natural variantiVAR_053568278T → M1 PublicationCorresponds to variant dbSNP:rs3746803EnsemblClinVar.1
    Natural variantiVAR_053569303I → V2 PublicationsCorresponds to variant dbSNP:rs3746802EnsemblClinVar.1
    Natural variantiVAR_077429312A → V in BVVLS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs752218005EnsemblClinVar.1
    Natural variantiVAR_077430319P → S in BVVLS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs797045195EnsemblClinVar.1
    Natural variantiVAR_077431330G → V in BVVLS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs797045196EnsemblClinVar.1
    Natural variantiVAR_063698350L → M Polymorphism; no effect on riboflavin transport; no effect on localization to cell membrane. 2 PublicationsCorresponds to variant dbSNP:rs76947760EnsemblClinVar.1
    Natural variantiVAR_077432375G → D in BVVLS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1219868273Ensembl.1
    Natural variantiVAR_063699411S → R. Corresponds to variant dbSNP:rs910857Ensembl.1
    Natural variantiVAR_063700413V → A in BVVLS1. 2 PublicationsCorresponds to variant dbSNP:rs267606687EnsemblClinVar.1
    Natural variantiVAR_063701457F → L in BVVLS1. 1 PublicationCorresponds to variant dbSNP:rs779750163Ensembl.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_003814401 – 415ASWVL…SYVKV → SIRPVGLLPLRTPHP in isoform 2. 1 Publication1 PublicationAdd BLAST15
    Alternative sequenceiVSP_003815416 – 469Missing in isoform 2. 1 Publication1 PublicationAdd BLAST54

    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
    KY978478 mRNA Translation: AUI80409.1
    KY978479 mRNA Translation: AUI80410.1
    JX478249 mRNA Translation: AFS68799.1
    AK074650 mRNA Translation: BAC11113.1
    AK291706 mRNA Translation: BAF84395.1
    AL118502 Genomic DNA No translation available.
    CH471133 Genomic DNA Translation: EAX10658.1
    CH471133 Genomic DNA Translation: EAX10659.1
    BC009750 mRNA Translation: AAH09750.2

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS13007.1 [Q9NQ40-1]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_212134.3, NM_033409.3 [Q9NQ40-1]
    XP_005260712.1, XM_005260655.3
    XP_011527450.1, XM_011529148.1

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000217254; ENSP00000217254; ENSG00000101276 [Q9NQ40-1]
    ENST00000381944; ENSP00000371370; ENSG00000101276 [Q9NQ40-2]
    ENST00000488495; ENSP00000494009; ENSG00000101276 [Q9NQ40-1]
    ENST00000632431; ENSP00000488723; ENSG00000101276 [Q9NQ40-1]
    ENST00000645534; ENSP00000494193; ENSG00000101276 [Q9NQ40-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    113278

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:113278

    UCSC genome browser

    More...
    UCSCi
    uc002wed.5 human [Q9NQ40-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, 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
    KY978478 mRNA Translation: AUI80409.1
    KY978479 mRNA Translation: AUI80410.1
    JX478249 mRNA Translation: AFS68799.1
    AK074650 mRNA Translation: BAC11113.1
    AK291706 mRNA Translation: BAF84395.1
    AL118502 Genomic DNA No translation available.
    CH471133 Genomic DNA Translation: EAX10658.1
    CH471133 Genomic DNA Translation: EAX10659.1
    BC009750 mRNA Translation: AAH09750.2
    CCDSiCCDS13007.1 [Q9NQ40-1]
    RefSeqiNP_212134.3, NM_033409.3 [Q9NQ40-1]
    XP_005260712.1, XM_005260655.3
    XP_011527450.1, XM_011529148.1

    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

    STRINGi9606.ENSP00000217254

    Protein family/group databases

    TCDBi2.A.125.1.2 the eukaryotic riboflavin transporter (e-rft) family

    PTM databases

    iPTMnetiQ9NQ40
    PhosphoSitePlusiQ9NQ40

    Polymorphism and mutation databases

    BioMutaiSLC52A3
    DMDMi82654931

    Proteomic databases

    jPOSTiQ9NQ40
    PaxDbiQ9NQ40
    PeptideAtlasiQ9NQ40
    PRIDEiQ9NQ40
    ProteomicsDBi82078 [Q9NQ40-1]
    82079 [Q9NQ40-2]

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    113278
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000217254; ENSP00000217254; ENSG00000101276 [Q9NQ40-1]
    ENST00000381944; ENSP00000371370; ENSG00000101276 [Q9NQ40-2]
    ENST00000488495; ENSP00000494009; ENSG00000101276 [Q9NQ40-1]
    ENST00000632431; ENSP00000488723; ENSG00000101276 [Q9NQ40-1]
    ENST00000645534; ENSP00000494193; ENSG00000101276 [Q9NQ40-1]
    GeneIDi113278
    KEGGihsa:113278
    UCSCiuc002wed.5 human [Q9NQ40-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    113278
    DisGeNETi113278

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    SLC52A3
    GeneReviewsiSLC52A3
    HGNCiHGNC:16187 SLC52A3
    HPAiHPA049391
    HPA059078
    MalaCardsiSLC52A3
    MIMi211500 phenotype
    211530 phenotype
    613350 gene
    neXtProtiNX_Q9NQ40
    OpenTargetsiENSG00000101276
    Orphaneti97229 Riboflavin transporter deficiency
    PharmGKBiPA25764

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG4255 Eukaryota
    ENOG410YE1U LUCA
    GeneTreeiENSGT00390000003774
    HOGENOMiHOG000247012
    InParanoidiQ9NQ40
    KOiK14620
    OMAiAMFLHFT
    OrthoDBi757564at2759
    PhylomeDBiQ9NQ40
    TreeFamiTF314820

    Enzyme and pathway databases

    ReactomeiR-HSA-196843 Vitamin B2 (riboflavin) metabolism

    Miscellaneous databases

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    C20orf54

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

    More...
    GenomeRNAii
    113278

    Protein Ontology

    More...
    PROi
    PR:Q9NQ40

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000101276 Expressed in 131 organ(s), highest expression level in testis
    GenevisibleiQ9NQ40 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR009357 Riboflavin_transptr
    PANTHERiPTHR12929 PTHR12929, 1 hit
    PfamiView protein in Pfam
    PF06237 DUF1011, 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 nameiS52A3_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: Q9NQ40
    Secondary accession number(s): A0A2I6BQ49
    , A8K6P1, K0A6P4, Q5W1A0, Q5W1A1, Q8NCL7, Q96GD5
    <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: January 10, 2003
    Last sequence update: November 22, 2005
    Last modified: July 31, 2019
    This is version 147 of the entry and version 4 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 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    UniProt is an ELIXIR core data resource
    Main funding by: National Institutes of Health

    We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

    Do not show this banner again