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Q9NWF4

- S52A1_HUMAN

UniProt

Q9NWF4 - S52A1_HUMAN

Protein

Solute carrier family 52, riboflavin transporter, member 1

Gene

SLC52A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 2 (05 Oct 2010)
      Previous versions | rss
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    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

    1. riboflavin transporter activity Source: UniProtKB
    2. virus receptor activity Source: UniProtKB-KW

    GO - Biological processi

    1. riboflavin transport Source: UniProtKB

    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: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:30225. SLC52A1.

    Subcellular locationi

    Cell membrane 2 Publications; Multi-pass membrane protein 2 Publications

    GO - Cellular componenti

    1. integral component of plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Riboflavin deficiency (RBFVD) [MIM:615026]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi615026. phenotype.
    Orphaneti329942. Transient neonatal multiple acyl-CoA dehydrogenase deficiency.
    PharmGKBiPA134991217.

    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

    ArrayExpressiQ9NWF4.
    BgeeiQ9NWF4.
    CleanExiHS_GPR172B.
    GenevestigatoriQ9NWF4.

    Organism-specific databases

    HPAiCAB011449.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000254853.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NWF4.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    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

    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.
    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. Align

    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

    MAAPTLGRLV LTHLLVALFG MGSWAAVNGI WVELPVVVKD LPEGWSLPSY    50
    LSVVVALGNL GLLVVTLWRQ LAPGKGEQVP IQVVQVLSVV GTALLAPLWH 100
    HVAPVAGQLH SVAFLTLALV LAMACCTSNV TFLPFLSHLP PPFLRSFFLG 150
    QGLSALLPCV LALVQGVGRL ECPPAPTNGT SGPPLDFPER FPASTFFWAL 200
    TALLVTSAAA FRGLLLLLPS LPSVTTGGSG PELQLGSPGA EEEEKEEEEA 250
    LPLQEPPSQA AGTIPGPDPE AHQLFSAHGA FLLGLMAFTS AVTNGVLPSV 300
    QSFSCLPYGR LAYHLAVVLG SAANPLACFL AMGVLCRSLA GLVGLSLLGM 350
    LFGAYLMALA ILSPCPPLVG TTAGVVLVVL SWVLCLCVFS YVKVAASSLL 400
    HGGGRPALLA AGVAIQVGSL LGAGAMFPPT SIYHVFQSRK DCVDPCGP 448
    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:
    EMBL
    GenBank
    DDBJ
    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]

    Polymorphism databases

    DMDMi308153487.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS11066.1. [Q9NWF4-1 ]
    RefSeqi NP_001098047.1. NM_001104577.1. [Q9NWF4-1 ]
    NP_060456.3. NM_017986.3. [Q9NWF4-1 ]
    UniGenei Hs.632247.

    3D structure databases

    ProteinModelPortali Q9NWF4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000254853.

    Protein family/group databases

    TCDBi 9.A.53.1.1. the eukaryotic riboflavin transporter (e-rft) family.

    PTM databases

    PhosphoSitei Q9NWF4.

    Polymorphism databases

    DMDMi 308153487.

    Proteomic databases

    PaxDbi Q9NWF4.
    PRIDEi Q9NWF4.

    Protocols and materials databases

    DNASUi 55065.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000254853 ; ENSP00000254853 ; ENSG00000132517 . [Q9NWF4-1 ]
    ENST00000424747 ; ENSP00000399979 ; ENSG00000132517 . [Q9NWF4-1 ]
    GeneIDi 55065.
    KEGGi hsa:55065.
    UCSCi uc002gao.4. human. [Q9NWF4-1 ]

    Organism-specific databases

    CTDi 55065.
    GeneCardsi GC17M004936.
    H-InvDB HIX0023130.
    HGNCi HGNC:30225. SLC52A1.
    HPAi CAB011449.
    MIMi 607883. gene.
    615026. phenotype.
    neXtProti NX_Q9NWF4.
    Orphaneti 329942. Transient neonatal multiple acyl-CoA dehydrogenase deficiency.
    PharmGKBi PA134991217.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG326568.
    HOGENOMi HOG000247012.
    HOVERGENi HBG051170.
    InParanoidi Q9NWF4.
    OMAi PLWHHVA.
    OrthoDBi EOG7XDBFX.
    PhylomeDBi Q9NWF4.
    TreeFami TF314820.

    Miscellaneous databases

    GenomeRNAii 55065.
    NextBioi 58569.
    PROi Q9NWF4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NWF4.
    Bgeei Q9NWF4.
    CleanExi HS_GPR172B.
    Genevestigatori Q9NWF4.

    Family and domain databases

    InterProi IPR009357. Endogenous_retrovirus_rcpt.
    [Graphical view ]
    PANTHERi PTHR12929. PTHR12929. 1 hit.
    Pfami PF06237. DUF1011. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 92 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