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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

    Enzyme and pathway databases

    BioCyciZFISH:ENSG00000132517-MONOMER.
    ReactomeiR-HSA-196843. Vitamin B2 (riboflavin) metabolism.

    Protein family/group databases

    TCDBi2.A.125.1.1. 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
    Proteomesi
    • UP000005640 Componenti: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:30225. SLC52A1.

    Subcellular locationi

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Transmembranei14 – 34HelicalSequence analysisAdd BLAST21
    Transmembranei47 – 67HelicalSequence analysisAdd BLAST21
    Transmembranei79 – 99HelicalSequence analysisAdd BLAST21
    Transmembranei124 – 144HelicalSequence analysisAdd BLAST21
    Transmembranei147 – 167HelicalSequence analysisAdd BLAST21
    Transmembranei191 – 211HelicalSequence analysisAdd BLAST21
    Transmembranei280 – 300HelicalSequence analysisAdd BLAST21
    Transmembranei315 – 335HelicalSequence analysisAdd BLAST21
    Transmembranei342 – 362HelicalSequence analysisAdd BLAST21
    Transmembranei369 – 389HelicalSequence analysisAdd BLAST21
    Transmembranei407 – 427HelicalSequence analysisAdd BLAST21

    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

    DisGeNETi55065.
    MalaCardsiSLC52A1.
    MIMi615026. phenotype.
    OpenTargetsiENSG00000132517.
    Orphaneti411712. Maternal riboflavin deficiency.
    PharmGKBiPA134991217.

    Polymorphism and mutation databases

    BioMutaiSLC52A1.
    DMDMi308153487.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00000426321 – 448Solute carrier family 52, riboflavin transporter, member 1Add BLAST448

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Glycosylationi178N-linked (GlcNAc...)Sequence analysis1

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9NWF4.
    PeptideAtlasiQ9NWF4.
    PRIDEiQ9NWF4.

    PTM databases

    iPTMnetiQ9NWF4.
    PhosphoSitePlusiQ9NWF4.

    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

    BgeeiENSG00000132517.
    CleanExiHS_GPR172B.
    ExpressionAtlasiQ9NWF4. baseline and differential.
    GenevisibleiQ9NWF4. HS.

    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)DescriptionActionsGraphical viewLength
    Compositional biasi241 – 249Poly-Glu9

    Sequence similaritiesi

    Belongs to the riboflavin transporter family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiKOG4255. Eukaryota.
    ENOG410YE1U. LUCA.
    GeneTreeiENSGT00390000003774.
    HOGENOMiHOG000247012.
    HOVERGENiHBG051170.
    InParanoidiQ9NWF4.
    OMAiAPLWHHV.
    OrthoDBiEOG091G0BZA.
    PhylomeDBiQ9NWF4.
    TreeFamiTF314820.

    Family and domain databases

    InterProiIPR009357. Riboflavin_transptr.
    [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)DescriptionActionsGraphical viewLength
    Natural variantiVAR_02836170Q → R Riboflavin transport is unaffected. 5 PublicationsCorresponds to variant rs346822dbSNPEnsembl.1
    Natural variantiVAR_028362271A → V.2 PublicationsCorresponds to variant rs346821dbSNPEnsembl.1
    Natural variantiVAR_028363296V → M Riboflavin transport is unaffected. 1 PublicationCorresponds to variant rs2304445dbSNPEnsembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_03988845 – 167WSLPS…LVQGV → EWEGGTGKRGAGMPRKVACG SSLSLSHCAPDMASFLPCRL EPPLIPLCGCGAGKPGSAGG DPVEAAGPGQGRAGPHPGGT GAECSGHSPAGPSVAPRGPS GRAAPLCGLPNSGLGVGNGL LYL in isoform 2. 1 PublicationAdd BLAST123
    Alternative sequenceiVSP_039889168 – 448Missing in isoform 2. 1 PublicationAdd BLAST281

    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]
    XP_011522253.1. XM_011523951.1. [Q9NWF4-1]
    UniGeneiHs.632247.

    Genome annotation databases

    EnsembliENST00000254853; ENSP00000254853; ENSG00000132517. [Q9NWF4-1]
    ENST00000424747; ENSP00000399979; ENSG00000132517. [Q9NWF4-1]
    GeneIDi55065.
    KEGGihsa:55065.
    UCSCiuc002gao.5. 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]
    XP_011522253.1. XM_011523951.1. [Q9NWF4-1]
    UniGeneiHs.632247.

    3D structure databases

    ProteinModelPortaliQ9NWF4.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    STRINGi9606.ENSP00000254853.

    Protein family/group databases

    TCDBi2.A.125.1.1. the eukaryotic riboflavin transporter (e-rft) family.

    PTM databases

    iPTMnetiQ9NWF4.
    PhosphoSitePlusiQ9NWF4.

    Polymorphism and mutation databases

    BioMutaiSLC52A1.
    DMDMi308153487.

    Proteomic databases

    PaxDbiQ9NWF4.
    PeptideAtlasiQ9NWF4.
    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.5. human. [Q9NWF4-1]

    Organism-specific databases

    CTDi55065.
    DisGeNETi55065.
    GeneCardsiSLC52A1.
    H-InvDBHIX0023130.
    HGNCiHGNC:30225. SLC52A1.
    HPAiCAB011449.
    MalaCardsiSLC52A1.
    MIMi607883. gene.
    615026. phenotype.
    neXtProtiNX_Q9NWF4.
    OpenTargetsiENSG00000132517.
    Orphaneti411712. Maternal riboflavin deficiency.
    PharmGKBiPA134991217.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG4255. Eukaryota.
    ENOG410YE1U. LUCA.
    GeneTreeiENSGT00390000003774.
    HOGENOMiHOG000247012.
    HOVERGENiHBG051170.
    InParanoidiQ9NWF4.
    OMAiAPLWHHV.
    OrthoDBiEOG091G0BZA.
    PhylomeDBiQ9NWF4.
    TreeFamiTF314820.

    Enzyme and pathway databases

    BioCyciZFISH:ENSG00000132517-MONOMER.
    ReactomeiR-HSA-196843. Vitamin B2 (riboflavin) metabolism.

    Miscellaneous databases

    GenomeRNAii55065.
    PROiQ9NWF4.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000132517.
    CleanExiHS_GPR172B.
    ExpressionAtlasiQ9NWF4. baseline and differential.
    GenevisibleiQ9NWF4. HS.

    Family and domain databases

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

    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: November 30, 2016
    This is version 111 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

    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.