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Protein

Solute carrier family 52, riboflavin transporter, member 2

Gene

SLC52A2

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

Riboflavin transporter. Riboflavin transport is Na+-independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin. Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).7 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=0.33 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

    • riboflavin transmembrane transporter activity Source: UniProtKB
    • virus receptor activity Source: UniProtKB-KW

    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

    Molecular functionHost cell receptor for virus entry, Receptor
    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.125.1.3 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 2
    Alternative name(s):
    Porcine endogenous retrovirus A receptor 1
    Short name:
    PERV-A receptor 1
    Protein GPR172A
    Riboflavin transporter 3
    Short name:
    hRFT3
    <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:SLC52A2
    Synonyms:GPR172A, PAR1, RFT3
    <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 8

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000185803.8

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:30224 SLC52A2

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    607882 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9HAB3

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the 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>Transmembranei14 – 34HelicalSequence analysisAdd BLAST21
    Transmembranei47 – 67HelicalSequence analysisAdd BLAST21
    Transmembranei86 – 106HelicalSequence analysisAdd BLAST21
    Transmembranei112 – 132HelicalSequence analysisAdd BLAST21
    Transmembranei147 – 167HelicalSequence analysisAdd BLAST21
    Transmembranei196 – 216HelicalSequence analysisAdd BLAST21
    Transmembranei277 – 297HelicalSequence analysisAdd BLAST21
    Transmembranei312 – 332HelicalSequence analysisAdd BLAST21
    Transmembranei339 – 359HelicalSequence analysisAdd BLAST21
    Transmembranei366 – 386HelicalSequence analysisAdd BLAST21
    Transmembranei404 – 424HelicalSequence analysisAdd BLAST21

    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

    Brown-Vialetto-Van Laere syndrome 2 (BVVLS2)5 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation.
    See also OMIM:614707
    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_07743331W → S in BVVLS2; strong decrease in riboflavin transport; no effect on localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs797045199EnsemblClinVar.1
    Natural variantiVAR_07743452S → F in BVVLS2; decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514657EnsemblClinVar.1
    Natural variantiVAR_077435123L → P in BVVLS2; strongly decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514538EnsemblClinVar.1
    Natural variantiVAR_077436141P → T in BVVLS2; decreased riboflavin transport; no effect on localization to plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs377740960Ensembl.1
    Natural variantiVAR_077437284A → D in BVVLS2; loss of riboflavin transport; loss of localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs398123067EnsemblClinVar.1
    Natural variantiVAR_077438305Y → C in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs398123068EnsemblClinVar.1
    Natural variantiVAR_068694306G → R in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs398124641EnsemblClinVar.1
    Natural variantiVAR_077439312L → P in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs754320812EnsemblClinVar.1
    Natural variantiVAR_077440339L → P in BVVLS2; loss of riboflavin transport; loss of localization to plasma membrane; no effect on protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs148234606EnsemblClinVar.1
    Natural variantiVAR_077441419G → S in BVVLS2; decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514658EnsemblClinVar.1

    Keywords - Diseasei

    Deafness, Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    79581

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

    More...
    GeneReviewsi
    SLC52A2

    MalaCards human disease database

    More...
    MalaCardsi
    SLC52A2
    MIMi614707 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000185803

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

    More...
    Orphaneti
    95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
    97229 Riboflavin transporter deficiency

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA134982935

    Chemistry databases

    Drug and drug target database

    More...
    DrugBanki
    DB01440 Gamma Hydroxybutyric Acid

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    SLC52A2

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    74734171

    <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_00000426311 – 445Solute carrier family 52, riboflavin transporter, member 2Add BLAST445

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q9HAB3

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

    More...
    PaxDbi
    Q9HAB3

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9HAB3

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9HAB3

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    81389

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9HAB3

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

    More...
    PhosphoSitePlusi
    Q9HAB3

    <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

    Highly expressed in brain, fetal brain and salivary gland. Weakly expressed in other tissues.2 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000185803 Expressed in 204 organ(s), highest expression level in prostate gland

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_GPR172A

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9HAB3 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9HAB3 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA063036

    <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%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    WithEntry#Exp.IntActNotes
    CDC23Q9UJX23EBI-10309896,EBI-396137

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    122725, 5 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q9HAB3, 2 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000333638

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

    3D structure databases

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    Q9HAB3

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

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

    Compositional bias

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi219 – 222Poly-Pro4

    <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

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG051170

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9HAB3

    KEGG Orthology (KO)

    More...
    KOi
    K22117

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    FLWHRVV

    Database of Orthologous Groups

    More...
    OrthoDBi
    EOG091G0BZA

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9HAB3

    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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

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

    This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

    Q9HAB3-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MAAPTPARPV LTHLLVALFG MGSWAAVNGI WVELPVVVKE LPEGWSLPSY
    60 70 80 90 100
    VSVLVALGNL GLLVVTLWRR LAPGKDEQVP IRVVQVLGMV GTALLASLWH
    110 120 130 140 150
    HVAPVAGQLH SVAFLALAFV LALACCASNV TFLPFLSHLP PRFLRSFFLG
    160 170 180 190 200
    QGLSALLPCV LALVQGVGRL ECPPAPINGT PGPPLDFLER FPASTFFWAL
    210 220 230 240 250
    TALLVASAAA FQGLLLLLPP PPSVPTGELG SGLQVGAPGA EEEVEESSPL
    260 270 280 290 300
    QEPPSQAAGT TPGPDPKAYQ LLSARSACLL GLLAATNALT NGVLPAVQSF
    310 320 330 340 350
    SCLPYGRLAY HLAVVLGSAA NPLACFLAMG VLCRSLAGLG GLSLLGVFCG
    360 370 380 390 400
    GYLMALAVLS PCPPLVGTSA GVVLVVLSWV LCLGVFSYVK VAASSLLHGG
    410 420 430 440
    GRPALLAAGV AIQVGSLLGA VAMFPPTSIY HVFHSRKDCA DPCDS
    Length:445
    Mass (Da):45,777
    Last modified:March 1, 2001 - v1
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB61421B956E44F84
    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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    E9PKE4E9PKE4_HUMAN
    Solute carrier family 52, riboflavi...
    SLC52A2
    175Annotation 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>
    E9PJC1E9PJC1_HUMAN
    Solute carrier family 52, riboflavi...
    SLC52A2
    111Annotation 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>
    E9PIX2E9PIX2_HUMAN
    Solute carrier family 52, riboflavi...
    SLC52A2
    172Annotation 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>
    E9PRC3E9PRC3_HUMAN
    Solute carrier family 52, riboflavi...
    SLC52A2
    69Annotation 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>
    E9PPS0E9PPS0_HUMAN
    Solute carrier family 52, riboflavi...
    SLC52A2
    87Annotation 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 conflicti341G → S in AAL59882 (PubMed:12740431).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07743331W → S in BVVLS2; strong decrease in riboflavin transport; no effect on localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs797045199EnsemblClinVar.1
    Natural variantiVAR_07743452S → F in BVVLS2; decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514657EnsemblClinVar.1
    Natural variantiVAR_077435123L → P in BVVLS2; strongly decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514538EnsemblClinVar.1
    Natural variantiVAR_077436141P → T in BVVLS2; decreased riboflavin transport; no effect on localization to plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs377740960Ensembl.1
    Natural variantiVAR_077437284A → D in BVVLS2; loss of riboflavin transport; loss of localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs398123067EnsemblClinVar.1
    Natural variantiVAR_077438305Y → C in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs398123068EnsemblClinVar.1
    Natural variantiVAR_068694306G → R in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs398124641EnsemblClinVar.1
    Natural variantiVAR_077439312L → P in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs754320812EnsemblClinVar.1
    Natural variantiVAR_077440339L → P in BVVLS2; loss of riboflavin transport; loss of localization to plasma membrane; no effect on protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs148234606EnsemblClinVar.1
    Natural variantiVAR_077441419G → S in BVVLS2; decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514658EnsemblClinVar.1

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    DDBJi
    Links Updated
    AY070774 mRNA Translation: AAL59882.1
    AB522904 mRNA Translation: BAK79010.1
    AK021918 mRNA Translation: BAB13936.1
    AK027888 mRNA Translation: BAB55433.1
    AK291581 mRNA Translation: BAF84270.1
    AF205589 Genomic DNA No translation available.
    CH471162 Genomic DNA Translation: EAW82115.1
    CH471162 Genomic DNA Translation: EAW82116.1
    BC002917 mRNA Translation: AAH02917.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS6423.1

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001240744.1, NM_001253815.1
    NP_001240745.1, NM_001253816.1
    NP_078807.1, NM_024531.4
    XP_006716721.1, XM_006716658.2
    XP_006716722.1, XM_006716659.2
    XP_006716723.1, XM_006716660.2
    XP_016869308.1, XM_017013819.1
    XP_016869309.1, XM_017013820.1

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.6459
    Hs.731710

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000329994; ENSP00000333638; ENSG00000185803
    ENST00000402965; ENSP00000385961; ENSG00000185803
    ENST00000527078; ENSP00000434728; ENSG00000185803
    ENST00000530047; ENSP00000435820; ENSG00000185803
    ENST00000532887; ENSP00000436768; ENSG00000185803
    ENST00000642477; ENSP00000496439; ENSG00000285112
    ENST00000643944; ENSP00000496184; ENSG00000185803
    ENST00000644059; ENSP00000494426; ENSG00000285112
    ENST00000644819; ENSP00000495046; ENSG00000285112
    ENST00000645040; ENSP00000495874; ENSG00000285112
    ENST00000645386; ENSP00000495049; ENSG00000285112
    ENST00000646034; ENSP00000495788; ENSG00000285112

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    79581

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:79581

    UCSC genome browser

    More...
    UCSCi
    uc003zcc.4 human

    <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
    AY070774 mRNA Translation: AAL59882.1
    AB522904 mRNA Translation: BAK79010.1
    AK021918 mRNA Translation: BAB13936.1
    AK027888 mRNA Translation: BAB55433.1
    AK291581 mRNA Translation: BAF84270.1
    AF205589 Genomic DNA No translation available.
    CH471162 Genomic DNA Translation: EAW82115.1
    CH471162 Genomic DNA Translation: EAW82116.1
    BC002917 mRNA Translation: AAH02917.1
    CCDSiCCDS6423.1
    RefSeqiNP_001240744.1, NM_001253815.1
    NP_001240745.1, NM_001253816.1
    NP_078807.1, NM_024531.4
    XP_006716721.1, XM_006716658.2
    XP_006716722.1, XM_006716659.2
    XP_006716723.1, XM_006716660.2
    XP_016869308.1, XM_017013819.1
    XP_016869309.1, XM_017013820.1
    UniGeneiHs.6459
    Hs.731710

    3D structure databases

    ProteinModelPortaliQ9HAB3
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi122725, 5 interactors
    IntActiQ9HAB3, 2 interactors
    STRINGi9606.ENSP00000333638

    Chemistry databases

    DrugBankiDB01440 Gamma Hydroxybutyric Acid

    Protein family/group databases

    TCDBi2.A.125.1.3 the eukaryotic riboflavin transporter (e-rft) family

    PTM databases

    iPTMnetiQ9HAB3
    PhosphoSitePlusiQ9HAB3

    Polymorphism and mutation databases

    BioMutaiSLC52A2
    DMDMi74734171

    Proteomic databases

    EPDiQ9HAB3
    PaxDbiQ9HAB3
    PeptideAtlasiQ9HAB3
    PRIDEiQ9HAB3
    ProteomicsDBi81389

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    79581
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000329994; ENSP00000333638; ENSG00000185803
    ENST00000402965; ENSP00000385961; ENSG00000185803
    ENST00000527078; ENSP00000434728; ENSG00000185803
    ENST00000530047; ENSP00000435820; ENSG00000185803
    ENST00000532887; ENSP00000436768; ENSG00000185803
    ENST00000642477; ENSP00000496439; ENSG00000285112
    ENST00000643944; ENSP00000496184; ENSG00000185803
    ENST00000644059; ENSP00000494426; ENSG00000285112
    ENST00000644819; ENSP00000495046; ENSG00000285112
    ENST00000645040; ENSP00000495874; ENSG00000285112
    ENST00000645386; ENSP00000495049; ENSG00000285112
    ENST00000646034; ENSP00000495788; ENSG00000285112
    GeneIDi79581
    KEGGihsa:79581
    UCSCiuc003zcc.4 human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    79581
    DisGeNETi79581
    EuPathDBiHostDB:ENSG00000185803.8

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    SLC52A2
    GeneReviewsiSLC52A2
    HGNCiHGNC:30224 SLC52A2
    HPAiHPA063036
    MalaCardsiSLC52A2
    MIMi607882 gene
    614707 phenotype
    neXtProtiNX_Q9HAB3
    OpenTargetsiENSG00000185803
    Orphaneti95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
    97229 Riboflavin transporter deficiency
    PharmGKBiPA134982935

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG4255 Eukaryota
    ENOG410YE1U LUCA
    GeneTreeiENSGT00390000003774
    HOGENOMiHOG000247012
    HOVERGENiHBG051170
    InParanoidiQ9HAB3
    KOiK22117
    OMAiFLWHRVV
    OrthoDBiEOG091G0BZA
    PhylomeDBiQ9HAB3
    TreeFamiTF314820

    Enzyme and pathway databases

    ReactomeiR-HSA-196843 Vitamin B2 (riboflavin) metabolism

    Miscellaneous databases

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

    More...
    GenomeRNAii
    79581

    Protein Ontology

    More...
    PROi
    PR:Q9HAB3

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000185803 Expressed in 204 organ(s), highest expression level in prostate gland
    CleanExiHS_GPR172A
    ExpressionAtlasiQ9HAB3 baseline and differential
    GenevisibleiQ9HAB3 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...

    <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 nameiS52A2_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: Q9HAB3
    Secondary accession number(s): A8K6B6
    , D3DWL8, G1UCY1, Q86UT1
    <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: October 11, 2005
    Last sequence update: March 1, 2001
    Last modified: December 5, 2018
    This is version 130 of the entry and version 1 of the sequence. See complete history.
    <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    UniProt is an ELIXIR core data resource
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