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Entry version 160 (29 Sep 2021)
Sequence version 4 (22 Nov 2005)
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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

Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22273710, PubMed:24264046, PubMed:27702554).

Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145).

1 Publication4 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 the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<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. Riboflavin transport is Na+-independent at low pH but significantly reduced by Na+ depletion under neutral pH conditions.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

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9NQ40

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000101276

<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

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 variants 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 variants 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 variant

Organism-specific databases

DisGeNET

More...
DisGeNETi
113278

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

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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
572550, RFVT3-related riboflavin transporter deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25764

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NQ40, Tbio

Genetic variation 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 or proteolytic cleavage.<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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NQ40

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

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PaxDbi
Q9NQ40

PeptideAtlas

More...
PeptideAtlasi
Q9NQ40

PRoteomics IDEntifications database

More...
PRIDEi
Q9NQ40

ProteomicsDB: a multi-organism proteome resource

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

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q9NQ40, 3 sites, 1 O-linked glycan (1 site)

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 testis and 149 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NQ40, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000101276, Tissue enhanced (testis)

<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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
125241, 1 interactor

Protein interaction database and analysis system

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IntActi
Q9NQ40, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000217254

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NQ40, protein

<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

<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

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eggNOGi
KOG4255, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000003774

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_034789_1_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NQ40

Identification of Orthologs from Complete Genome Data

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OMAi
NDGWTIH

Database of Orthologous Groups

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OrthoDBi
757564at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NQ40

TreeFam database of animal gene trees

More...
TreeFami
TF314820

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009357, Riboflavin_transptr

The PANTHER Classification System

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PANTHERi
PTHR12929, PTHR12929, 1 hit

Pfam protein domain database

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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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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.

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Length:415
Mass (Da):45,043
Checksum:i8E072208A8998A56
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A6Q8PFQ2A0A6Q8PFQ2_HUMAN
Riboflavin transporter
SLC52A3
364Annotation score:

Annotation score:2 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>
A0A6Q8PHL7A0A6Q8PHL7_HUMAN
Solute carrier family 52, riboflavi...
SLC52A3
336Annotation score:

Annotation score:2 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>
A0A6Q8PFG7A0A6Q8PFG7_HUMAN
Solute carrier family 52, riboflavi...
SLC52A3
228Annotation 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>
A0A6Q8PHL2A0A6Q8PHL2_HUMAN
Solute carrier family 52, riboflavi...
SLC52A3
44Annotation 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>

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 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

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EMBLi

GenBank nucleotide sequence database

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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

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CCDSi
CCDS13007.1 [Q9NQ40-1]

NCBI Reference Sequences

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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

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

Database of genes from NCBI RefSeq genomes

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GeneIDi
113278

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:113278

UCSC genome browser

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UCSCi
uc002wed.5, human [Q9NQ40-1]

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
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

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi125241, 1 interactor
IntActiQ9NQ40, 3 interactors
STRINGi9606.ENSP00000217254

Protein family/group databases

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

PTM databases

GlyGeniQ9NQ40, 3 sites, 1 O-linked glycan (1 site)
iPTMnetiQ9NQ40
PhosphoSitePlusiQ9NQ40

Genetic variation databases

BioMutaiSLC52A3
DMDMi82654931

Proteomic databases

MassIVEiQ9NQ40
PaxDbiQ9NQ40
PeptideAtlasiQ9NQ40
PRIDEiQ9NQ40
ProteomicsDBi82078 [Q9NQ40-1]
82079 [Q9NQ40-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
54121, 64 antibodies

The DNASU plasmid repository

More...
DNASUi
113278

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
113278
DisGeNETi113278

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC52A3
GeneReviewsiSLC52A3
HGNCiHGNC:16187, SLC52A3
HPAiENSG00000101276, Tissue enhanced (testis)
MalaCardsiSLC52A3
MIMi211500, phenotype
211530, phenotype
613350, gene
neXtProtiNX_Q9NQ40
OpenTargetsiENSG00000101276
Orphaneti572550, RFVT3-related riboflavin transporter deficiency
PharmGKBiPA25764
VEuPathDBiHostDB:ENSG00000101276

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4255, Eukaryota
GeneTreeiENSGT00390000003774
HOGENOMiCLU_034789_1_0_1
InParanoidiQ9NQ40
OMAiNDGWTIH
OrthoDBi757564at2759
PhylomeDBiQ9NQ40
TreeFamiTF314820

Enzyme and pathway databases

PathwayCommonsiQ9NQ40
ReactomeiR-HSA-196843, Vitamin B2 (riboflavin) metabolism

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
113278, 5 hits in 1005 CRISPR screens

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

More...
ChiTaRSi
SLC52A3, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
C20orf54

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

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GenomeRNAii
113278
PharosiQ9NQ40, Tbio

Protein Ontology

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PROi
PR:Q9NQ40
RNActiQ9NQ40, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000101276, Expressed in testis and 149 other tissues
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

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: September 29, 2021
This is version 160 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

Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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