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Q9HAB3

- S52A2_HUMAN

UniProt

Q9HAB3 - S52A2_HUMAN

Protein

Solute carrier family 52, riboflavin transporter, member 2

Gene

SLC52A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      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) 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

    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.53.1.3. 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: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:30224. SLC52A2.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]: An 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.

    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

    ArrayExpressiQ9HAB3.
    BgeeiQ9HAB3.
    CleanExiHS_GPR172A.
    GenevestigatoriQ9HAB3.

    Interactioni

    Protein-protein interaction databases

    BioGridi122725. 2 interactions.
    STRINGi9606.ENSP00000333638.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HAB3.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    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

    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.
    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

    MAAPTPARPV LTHLLVALFG MGSWAAVNGI WVELPVVVKE LPEGWSLPSY    50
    VSVLVALGNL GLLVVTLWRR LAPGKDEQVP IRVVQVLGMV GTALLASLWH 100
    HVAPVAGQLH SVAFLALAFV LALACCASNV TFLPFLSHLP PRFLRSFFLG 150
    QGLSALLPCV LALVQGVGRL ECPPAPINGT PGPPLDFLER FPASTFFWAL 200
    TALLVASAAA FQGLLLLLPP PPSVPTGELG SGLQVGAPGA EEEVEESSPL 250
    QEPPSQAAGT TPGPDPKAYQ LLSARSACLL GLLAATNALT NGVLPAVQSF 300
    SCLPYGRLAY HLAVVLGSAA NPLACFLAMG VLCRSLAGLG GLSLLGVFCG 350
    GYLMALAVLS PCPPLVGTSA GVVLVVLSWV LCLGVFSYVK VAASSLLHGG 400
    GRPALLAAGV AIQVGSLLGA VAMFPPTSIY HVFHSRKDCA DPCDS 445
    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:
    EMBL
    GenBank
    DDBJ
    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.

    Polymorphism databases

    DMDMi74734171.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS6423.1.
    RefSeqi NP_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.
    UniGenei Hs.6459.
    Hs.731710.

    3D structure databases

    ProteinModelPortali Q9HAB3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122725. 2 interactions.
    STRINGi 9606.ENSP00000333638.

    Protein family/group databases

    TCDBi 9.A.53.1.3. the eukaryotic riboflavin transporter (e-rft) family.

    PTM databases

    PhosphoSitei Q9HAB3.

    Polymorphism databases

    DMDMi 74734171.

    Proteomic databases

    PaxDbi Q9HAB3.
    PRIDEi Q9HAB3.

    Protocols and materials databases

    DNASUi 79581.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000329994 ; ENSP00000333638 ; ENSG00000185803 .
    ENST00000402965 ; ENSP00000385961 ; ENSG00000185803 .
    ENST00000527078 ; ENSP00000434728 ; ENSG00000185803 .
    ENST00000530047 ; ENSP00000435820 ; ENSG00000185803 .
    ENST00000532887 ; ENSP00000436768 ; ENSG00000185803 .
    GeneIDi 79581.
    KEGGi hsa:79581.
    UCSCi uc003zcc.2. human.

    Organism-specific databases

    CTDi 79581.
    GeneCardsi GC08P145577.
    HGNCi HGNC:30224. SLC52A2.
    MIMi 607882. gene.
    614707. phenotype.
    neXtProti NX_Q9HAB3.
    Orphaneti 97229. Riboflavin transporter deficiency.
    PharmGKBi PA134982935.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG326568.
    HOGENOMi HOG000247012.
    HOVERGENi HBG051170.
    InParanoidi Q9HAB3.
    OMAi CADPCDS.
    PhylomeDBi Q9HAB3.
    TreeFami TF314820.

    Miscellaneous databases

    GenomeRNAii 79581.
    NextBioi 68566.
    PROi Q9HAB3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9HAB3.
    Bgeei Q9HAB3.
    CleanExi HS_GPR172A.
    Genevestigatori Q9HAB3.

    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], 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: October 1, 2014
    This is version 99 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