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Protein

Solute carrier family 52, riboflavin transporter, member 1

Gene

SLC52A1

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). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).2 Publications

Kineticsi

  1. KM=1.38 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.53.1.1. the eukaryotic riboflavin transporter (e-rft) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 52, riboflavin transporter, member 1
    Alternative name(s):
    Porcine endogenous retrovirus A receptor 2
    Short name:
    PERV-A receptor 2
    Protein GPR172B
    Riboflavin transporter 1
    Short name:
    hRFT1
    Gene namesi
    Name:SLC52A1
    Synonyms:GPR172B, PAR2, RFT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640 Componenti: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:30225. SLC52A1.

    Subcellular locationi

    Topology

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei14 – 3421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei47 – 6721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei79 – 9921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei124 – 14421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei147 – 16721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei191 – 21121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei280 – 30021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei315 – 33521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei342 – 36221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei369 – 38921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei407 – 42721HelicalSequence 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

    Riboflavin deficiency (RBFVD)1 Publication

    The disease is caused by mutations affecting the gene represented in this entry.

    Disease descriptionA disorder caused by a primary defect in riboflavin metabolism, or by dietary riboflavin deficiency. Riboflavin deficiency during pregnancy results in hypoglycemia, metabolic acidosis, dicarboxylic aciduria and elevated plasma acylcarnitine levels in the newborn. Treatment with oral riboflavin results in complete resolution of the clinical and biochemical findings.

    See also OMIM:615026

    Organism-specific databases

    MIMi615026. phenotype.
    Orphaneti411712. Maternal riboflavin deficiency.
    PharmGKBiPA134991217.

    Polymorphism and mutation databases

    BioMutaiSLC52A1.
    DMDMi308153487.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 448448Solute carrier family 52, riboflavin transporter, member 1PRO_0000042632Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi178 – 1781N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9NWF4.
    PRIDEiQ9NWF4.

    PTM databases

    PhosphoSiteiQ9NWF4.

    Expressioni

    Tissue specificityi

    Widely expressed. Highly expressed in the testis, placenta and small intestine. Expressed at lower level in other tissues.3 Publications

    Gene expression databases

    BgeeiQ9NWF4.
    CleanExiHS_GPR172B.
    ExpressionAtlasiQ9NWF4. baseline and differential.
    GenevestigatoriQ9NWF4.

    Organism-specific databases

    HPAiCAB011449.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000254853.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NWF4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi241 – 2499Poly-Glu

    Sequence similaritiesi

    Belongs to the riboflavin transporter family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG326568.
    GeneTreeiENSGT00390000003774.
    HOGENOMiHOG000247012.
    HOVERGENiHBG051170.
    InParanoidiQ9NWF4.
    OMAiPLWHHVA.
    OrthoDBiEOG7XDBFX.
    PhylomeDBiQ9NWF4.
    TreeFamiTF314820.

    Family and domain databases

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

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    Isoform 1 (identifier: Q9NWF4-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' 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
    MAAPTLGRLV LTHLLVALFG MGSWAAVNGI WVELPVVVKD LPEGWSLPSY
    60 70 80 90 100
    LSVVVALGNL GLLVVTLWRQ LAPGKGEQVP IQVVQVLSVV GTALLAPLWH
    110 120 130 140 150
    HVAPVAGQLH SVAFLTLALV LAMACCTSNV TFLPFLSHLP PPFLRSFFLG
    160 170 180 190 200
    QGLSALLPCV LALVQGVGRL ECPPAPTNGT SGPPLDFPER FPASTFFWAL
    210 220 230 240 250
    TALLVTSAAA FRGLLLLLPS LPSVTTGGSG PELQLGSPGA EEEEKEEEEA
    260 270 280 290 300
    LPLQEPPSQA AGTIPGPDPE AHQLFSAHGA FLLGLMAFTS AVTNGVLPSV
    310 320 330 340 350
    QSFSCLPYGR LAYHLAVVLG SAANPLACFL AMGVLCRSLA GLVGLSLLGM
    360 370 380 390 400
    LFGAYLMALA ILSPCPPLVG TTAGVVLVVL SWVLCLCVFS YVKVAASSLL
    410 420 430 440
    HGGGRPALLA AGVAIQVGSL LGAGAMFPPT SIYHVFQSRK DCVDPCGP
    Length:448
    Mass (Da):46,317
    Last modified:October 5, 2010 - v2
    Checksum:iB9D2EDEE75405668
    GO
    Isoform 2 (identifier: Q9NWF4-2) [UniParc]FASTAAdd to basket

    Also known as: RFT1sv

    The sequence of this isoform differs from the canonical sequence as follows:
         45-167: WSLPSYLSVV...PCVLALVQGV → EWEGGTGKRG...LGVGNGLLYL
         168-448: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:167
    Mass (Da):16,360
    Checksum:iBADFC9E5E1C865E9
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti70 – 701Q → R Riboflavin transport is unaffected. 5 Publications
    Corresponds to variant rs346822 [ dbSNP | Ensembl ].
    VAR_028361
    Natural varianti271 – 2711A → V.2 Publications
    Corresponds to variant rs346821 [ dbSNP | Ensembl ].
    VAR_028362
    Natural varianti296 – 2961V → M Riboflavin transport is unaffected. 1 Publication
    Corresponds to variant rs2304445 [ dbSNP | Ensembl ].
    VAR_028363

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei45 – 167123WSLPS…LVQGV → EWEGGTGKRGAGMPRKVACG SSLSLSHCAPDMASFLPCRL EPPLIPLCGCGAGKPGSAGG DPVEAAGPGQGRAGPHPGGT GAECSGHSPAGPSVAPRGPS GRAAPLCGLPNSGLGVGNGL LYL in isoform 2. 1 PublicationVSP_039888Add
    BLAST
    Alternative sequencei168 – 448281Missing in isoform 2. 1 PublicationVSP_039889Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AY070775 mRNA. Translation: AAL59883.1.
    AB362533 mRNA. Translation: BAG71128.1.
    AB362534 mRNA. Translation: BAG71129.1.
    AK000922 mRNA. Translation: BAA91427.1.
    AC012146 Genomic DNA. No translation available.
    CH471108 Genomic DNA. Translation: EAW90363.1.
    CH471108 Genomic DNA. Translation: EAW90364.1.
    BC060810 mRNA. Translation: AAH60810.1.
    BC092473 mRNA. Translation: AAH92473.1.
    CCDSiCCDS11066.1. [Q9NWF4-1]
    RefSeqiNP_001098047.1. NM_001104577.1. [Q9NWF4-1]
    NP_060456.3. NM_017986.3. [Q9NWF4-1]
    UniGeneiHs.632247.

    Genome annotation databases

    EnsembliENST00000254853; ENSP00000254853; ENSG00000132517. [Q9NWF4-1]
    ENST00000424747; ENSP00000399979; ENSG00000132517. [Q9NWF4-1]
    GeneIDi55065.
    KEGGihsa:55065.
    UCSCiuc002gao.4. human. [Q9NWF4-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AY070775 mRNA. Translation: AAL59883.1.
    AB362533 mRNA. Translation: BAG71128.1.
    AB362534 mRNA. Translation: BAG71129.1.
    AK000922 mRNA. Translation: BAA91427.1.
    AC012146 Genomic DNA. No translation available.
    CH471108 Genomic DNA. Translation: EAW90363.1.
    CH471108 Genomic DNA. Translation: EAW90364.1.
    BC060810 mRNA. Translation: AAH60810.1.
    BC092473 mRNA. Translation: AAH92473.1.
    CCDSiCCDS11066.1. [Q9NWF4-1]
    RefSeqiNP_001098047.1. NM_001104577.1. [Q9NWF4-1]
    NP_060456.3. NM_017986.3. [Q9NWF4-1]
    UniGeneiHs.632247.

    3D structure databases

    ProteinModelPortaliQ9NWF4.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    STRINGi9606.ENSP00000254853.

    Protein family/group databases

    TCDBi9.A.53.1.1. the eukaryotic riboflavin transporter (e-rft) family.

    PTM databases

    PhosphoSiteiQ9NWF4.

    Polymorphism and mutation databases

    BioMutaiSLC52A1.
    DMDMi308153487.

    Proteomic databases

    PaxDbiQ9NWF4.
    PRIDEiQ9NWF4.

    Protocols and materials databases

    DNASUi55065.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000254853; ENSP00000254853; ENSG00000132517. [Q9NWF4-1]
    ENST00000424747; ENSP00000399979; ENSG00000132517. [Q9NWF4-1]
    GeneIDi55065.
    KEGGihsa:55065.
    UCSCiuc002gao.4. human. [Q9NWF4-1]

    Organism-specific databases

    CTDi55065.
    GeneCardsiGC17M004936.
    H-InvDBHIX0023130.
    HGNCiHGNC:30225. SLC52A1.
    HPAiCAB011449.
    MIMi607883. gene.
    615026. phenotype.
    neXtProtiNX_Q9NWF4.
    Orphaneti411712. Maternal riboflavin deficiency.
    PharmGKBiPA134991217.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiNOG326568.
    GeneTreeiENSGT00390000003774.
    HOGENOMiHOG000247012.
    HOVERGENiHBG051170.
    InParanoidiQ9NWF4.
    OMAiPLWHHVA.
    OrthoDBiEOG7XDBFX.
    PhylomeDBiQ9NWF4.
    TreeFamiTF314820.

    Miscellaneous databases

    GenomeRNAii55065.
    NextBioi58569.
    PROiQ9NWF4.
    SOURCEiSearch...

    Gene expression databases

    BgeeiQ9NWF4.
    CleanExiHS_GPR172B.
    ExpressionAtlasiQ9NWF4. baseline and differential.
    GenevestigatoriQ9NWF4.

    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] (ISOFORM 1), TISSUE SPECIFICITY, FUNCTION AS A VIRAL RECEPTOR.
    2. "Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1."
      Yonezawa A., Masuda S., Katsura T., Inui K.
      Am. J. Physiol. 295:C632-C641(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT ARG-70, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    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] (ISOFORM 1), VARIANT ARG-70.
      Tissue: Embryo.
    4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-70.
    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] (ISOFORM 1), VARIANTS ARG-70 AND VAL-271.
      Tissue: Placenta.
    7. "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: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES.
    8. "Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B."
      Ho G., Yonezawa A., Masuda S., Inui K., Sim K.G., Carpenter K., Olsen R.K., Mitchell J.J., Rhead W.J., Peters G., Christodoulou J.
      Hum. Mutat. 32:E1976-E1984(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARG-70; VAL-271 AND MET-296, CHARACTERIZATION OF VARIANTS ARG-70 AND MET-296, INVOLVEMENT IN RBFVD.

    Entry informationi

    Entry nameiS52A1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NWF4
    Secondary accession number(s): B5MEV1
    , B5MEV2, Q6P9E0, Q86UT0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 11, 2005
    Last sequence update: October 5, 2010
    Last modified: April 29, 2015
    This is version 96 of the entry and version 2 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 17
      Human chromosome 17: 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.