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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).3 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 transport Source: UniProtKB
    Complete GO annotation...

    Keywords - Molecular functioni

    Host cell receptor for virus entry, Receptor

    Keywords - Biological processi

    Transport

    Protein family/group databases

    TCDBi9.A.53.1.3. 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
    ProteomesiUP000005640 Componenti: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:30224. SLC52A2.

    Subcellular locationi

    Topology

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei14 – 3421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei47 – 6721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei86 – 10621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei112 – 13221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei147 – 16721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei196 – 21621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei277 – 29721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei312 – 33221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei339 – 35921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei366 – 38621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei404 – 42421HelicalSequence AnalysisAdd
    BLAST

    GO - Cellular componenti

    • integral component of plasma membrane Source: UniProtKB
    Complete GO annotation...

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Brown-Vialetto-Van Laere syndrome 2 (BVVLS2)1 Publication

    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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti306 – 3061G → R in BVVLS2. 1 Publication
    VAR_068694

    Keywords - Diseasei

    Deafness, Disease mutation

    Organism-specific databases

    MIMi614707. phenotype.
    Orphaneti97229. Riboflavin transporter deficiency.
    PharmGKBiPA134982935.

    Chemistry

    DrugBankiDB01440. Gamma Hydroxybutyric Acid.

    Polymorphism and mutation databases

    BioMutaiSLC52A2.
    DMDMi74734171.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 445445Solute carrier family 52, riboflavin transporter, member 2PRO_0000042631Add
    BLAST

    Proteomic databases

    PaxDbiQ9HAB3.
    PRIDEiQ9HAB3.

    PTM databases

    PhosphoSiteiQ9HAB3.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiQ9HAB3.
    CleanExiHS_GPR172A.
    ExpressionAtlasiQ9HAB3. baseline and differential.
    GenevestigatoriQ9HAB3.

    Interactioni

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi122725. 3 interactions.
    IntActiQ9HAB3. 1 interaction.
    STRINGi9606.ENSP00000333638.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HAB3.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi219 – 2224Poly-Pro

    Sequence similaritiesi

    Belongs to the riboflavin transporter family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG326568.
    GeneTreeiENSGT00390000003774.
    HOGENOMiHOG000247012.
    HOVERGENiHBG051170.
    InParanoidiQ9HAB3.
    OMAiCADPCDS.
    PhylomeDBiQ9HAB3.
    TreeFamiTF314820.

    Family and domain databases

    InterProiIPR009357. Endogenous_retrovirus_rcpt.
    [Graphical view]
    PANTHERiPTHR12929. PTHR12929. 1 hit.
    PfamiPF06237. DUF1011. 1 hit.
    [Graphical view]

    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti341 – 3411G → S in AAL59882 (PubMed:12740431).Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti306 – 3061G → R in BVVLS2. 1 Publication
    VAR_068694

    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_006716658.1.
    XP_006716722.1. XM_006716659.1.
    XP_006716723.1. XM_006716660.1.
    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.2. human.

    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_006716658.1.
    XP_006716722.1. XM_006716659.1.
    XP_006716723.1. XM_006716660.1.
    UniGeneiHs.6459.
    Hs.731710.

    3D structure databases

    ProteinModelPortaliQ9HAB3.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi122725. 3 interactions.
    IntActiQ9HAB3. 1 interaction.
    STRINGi9606.ENSP00000333638.

    Chemistry

    DrugBankiDB01440. Gamma Hydroxybutyric Acid.

    Protein family/group databases

    TCDBi9.A.53.1.3. the eukaryotic riboflavin transporter (e-rft) family.

    PTM databases

    PhosphoSiteiQ9HAB3.

    Polymorphism and mutation databases

    BioMutaiSLC52A2.
    DMDMi74734171.

    Proteomic databases

    PaxDbiQ9HAB3.
    PRIDEiQ9HAB3.

    Protocols and materials databases

    DNASUi79581.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000329994; ENSP00000333638; ENSG00000185803.
    ENST00000402965; ENSP00000385961; ENSG00000185803.
    ENST00000527078; ENSP00000434728; ENSG00000185803.
    ENST00000530047; ENSP00000435820; ENSG00000185803.
    ENST00000532887; ENSP00000436768; ENSG00000185803.
    GeneIDi79581.
    KEGGihsa:79581.
    UCSCiuc003zcc.2. human.

    Organism-specific databases

    CTDi79581.
    GeneCardsiGC08P145577.
    HGNCiHGNC:30224. SLC52A2.
    MIMi607882. gene.
    614707. phenotype.
    neXtProtiNX_Q9HAB3.
    Orphaneti97229. Riboflavin transporter deficiency.
    PharmGKBiPA134982935.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiNOG326568.
    GeneTreeiENSGT00390000003774.
    HOGENOMiHOG000247012.
    HOVERGENiHBG051170.
    InParanoidiQ9HAB3.
    OMAiCADPCDS.
    PhylomeDBiQ9HAB3.
    TreeFamiTF314820.

    Miscellaneous databases

    GenomeRNAii79581.
    NextBioi68566.
    PROiQ9HAB3.
    SOURCEiSearch...

    Gene expression databases

    BgeeiQ9HAB3.
    CleanExiHS_GPR172A.
    ExpressionAtlasiQ9HAB3. baseline and differential.
    GenevestigatoriQ9HAB3.

    Family and domain databases

    InterProiIPR009357. Endogenous_retrovirus_rcpt.
    [Graphical view]
    PANTHERiPTHR12929. PTHR12929. 1 hit.
    PfamiPF06237. DUF1011. 1 hit.
    [Graphical view]
    ProtoNetiSearch...

    Publicationsi

    « Hide 'large scale' publications
    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, FUNCTION AS A VIRAL RECEPTOR.
    2. "Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain."
      Yao Y., Yonezawa A., Yoshimatsu H., Masuda S., Katsura T., Inui K.
      J. Nutr. 140:1220-1226(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Embryo and Placenta.
    4. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Skin.
    7. "Single-round selection yields a unique retroviral envelope utilizing GPR172A as its host receptor."
      Mazari P.M., Linder-Basso D., Sarangi A., Chang Y., Roth M.J.
      Proc. Natl. Acad. Sci. U.S.A. 106:5848-5853(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS A VIRAL RECEPTOR.
    8. Cited for: VARIANT BVVLS2 ARG-306.

    Entry informationi

    Entry nameiS52A2_HUMAN
    AccessioniPrimary (citable) accession number: Q9HAB3
    Secondary accession number(s): A8K6B6
    , D3DWL8, G1UCY1, Q86UT1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 11, 2005
    Last sequence update: March 1, 2001
    Last modified: April 29, 2015
    This is version 103 of the entry and version 1 of the sequence. [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

    External Data

    Dasty 3

    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 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.