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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-Experimental evidence at protein leveli

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

Kineticsi

  1. KM=0.33 µM for riboflavin1 Publication

    GO - Molecular functioni

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

    GO - Biological processi

    • riboflavin metabolic process Source: Reactome
    • riboflavin transport Source: UniProtKB

    Keywordsi

    Molecular functionHost cell receptor for virus entry, Receptor
    Biological processTransport

    Enzyme and pathway databases

    ReactomeiR-HSA-196843. Vitamin B2 (riboflavin) metabolism.

    Protein family/group databases

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

    Names & Taxonomyi

    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
    Gene namesi
    Name:SLC52A2
    Synonyms:GPR172A, PAR1, RFT3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:30224. SLC52A2.

    Subcellular locationi

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    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

    GO - Cellular componenti

    • integral component of plasma membrane Source: UniProtKB
    • plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    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
    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:rs797045199Ensembl.1
    Natural variantiVAR_07743452S → F in BVVLS2; decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514657Ensembl.1
    Natural variantiVAR_077435123L → P in BVVLS2; strongly decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514538Ensembl.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:rs398123067Ensembl.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:rs398123068Ensembl.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:rs398124641Ensembl.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:rs754320812Ensembl.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:rs148234606Ensembl.1
    Natural variantiVAR_077441419G → S in BVVLS2; decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514658Ensembl.1

    Keywords - Diseasei

    Deafness, Disease mutation

    Organism-specific databases

    DisGeNETi79581.
    MalaCardsiSLC52A2.
    MIMi614707. phenotype.
    OpenTargetsiENSG00000185803.
    Orphaneti97229. Riboflavin transporter deficiency.
    PharmGKBiPA134982935.

    Chemistry databases

    DrugBankiDB01440. Gamma Hydroxybutyric Acid.

    Polymorphism and mutation databases

    BioMutaiSLC52A2.
    DMDMi74734171.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00000426311 – 445Solute carrier family 52, riboflavin transporter, member 2Add BLAST445

    Proteomic databases

    EPDiQ9HAB3.
    PaxDbiQ9HAB3.
    PeptideAtlasiQ9HAB3.
    PRIDEiQ9HAB3.

    PTM databases

    iPTMnetiQ9HAB3.
    PhosphoSitePlusiQ9HAB3.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiENSG00000185803.
    CleanExiHS_GPR172A.
    ExpressionAtlasiQ9HAB3. baseline and differential.
    GenevisibleiQ9HAB3. HS.

    Organism-specific databases

    HPAiHPA063036.

    Interactioni

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi122725. 4 interactors.
    IntActiQ9HAB3. 1 interactor.
    STRINGi9606.ENSP00000333638.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HAB3.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Compositional biasi219 – 222Poly-Pro4

    Sequence similaritiesi

    Belongs to the riboflavin transporter family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiKOG4255. Eukaryota.
    ENOG410YE1U. LUCA.
    GeneTreeiENSGT00390000003774.
    HOGENOMiHOG000247012.
    HOVERGENiHBG051170.
    InParanoidiQ9HAB3.
    OMAiCADPCDS.
    OrthoDBiEOG091G0BZA.
    PhylomeDBiQ9HAB3.
    TreeFamiTF314820.

    Family and domain databases

    InterProiView protein in InterPro
    IPR009357. Riboflavin_transptr.
    PANTHERiPTHR12929. PTHR12929. 1 hit.
    PfamiView protein in Pfam
    PF06237. DUF1011. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    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
    Checksum:iB61421B956E44F84
    GO

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    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:rs797045199Ensembl.1
    Natural variantiVAR_07743452S → F in BVVLS2; decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514657Ensembl.1
    Natural variantiVAR_077435123L → P in BVVLS2; strongly decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514538Ensembl.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:rs398123067Ensembl.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:rs398123068Ensembl.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:rs398124641Ensembl.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:rs754320812Ensembl.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:rs148234606Ensembl.1
    Natural variantiVAR_077441419G → S in BVVLS2; decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514658Ensembl.1

    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.

    Genome annotation databases

    EnsembliENST00000329994; ENSP00000333638; ENSG00000185803.
    ENST00000402965; ENSP00000385961; ENSG00000185803.
    ENST00000527078; ENSP00000434728; ENSG00000185803.
    ENST00000530047; ENSP00000435820; ENSG00000185803.
    ENST00000532887; ENSP00000436768; ENSG00000185803.
    GeneIDi79581.
    KEGGihsa:79581.
    UCSCiuc003zcc.4. human.

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

    Entry informationi

    Entry nameiS52A2_HUMAN
    AccessioniPrimary (citable) accession number: Q9HAB3
    Secondary accession number(s): A8K6B6
    , D3DWL8, G1UCY1, Q86UT1
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2005
    Last sequence update: March 1, 2001
    Last modified: March 15, 2017
    This is version 121 of the entry and version 1 of the sequence. See complete history.
    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.

    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. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    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