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Q9NWF4

- S52A1_HUMAN

UniProt

Q9NWF4 - S52A1_HUMAN

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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

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
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: 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
Complete GO annotation...

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

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...

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.
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. 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

        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:
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.
GeneTreei ENSGT00390000003774.
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

Bgeei Q9NWF4.
CleanExi HS_GPR172B.
ExpressionAtlasi Q9NWF4. baseline and differential.
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

« 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: October 29, 2014
This is version 93 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