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Q9NWF4 (S52A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SLC52A1
Synonyms:GPR172B, PAR2, RFT1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length448 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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). Ref.1 Ref.7

Subcellular location

Cell membrane; Multi-pass membrane protein Ref.2 Ref.7.

Tissue specificity

Widely expressed. Highly expressed in the testis, placenta and small intestine. Expressed at lower level in other tissues. Ref.1 Ref.2 Ref.7

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the riboflavin transporter family.

Biophysicochemical properties

Kinetic parameters:

KM=1.38 µM for riboflavin Ref.7

Ontologies

Keywords
   Biological processTransport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Molecular functionHost cell receptor for virus entry
Receptor
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processriboflavin transport

Inferred from direct assay Ref.7. Source: UniProtKB

   Cellular_componentintegral component of plasma membrane

Inferred from direct assay Ref.7. Source: UniProtKB

   Molecular_functionriboflavin transporter activity

Inferred from direct assay Ref.7. Source: UniProtKB

virus receptor activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NWF4-1)

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.
Isoform 2 (identifier: Q9NWF4-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 448448Solute carrier family 52, riboflavin transporter, member 1
PRO_0000042632

Regions

Transmembrane14 – 3421Helical; Potential
Transmembrane47 – 6721Helical; Potential
Transmembrane79 – 9921Helical; Potential
Transmembrane124 – 14421Helical; Potential
Transmembrane147 – 16721Helical; Potential
Transmembrane191 – 21121Helical; Potential
Transmembrane280 – 30021Helical; Potential
Transmembrane315 – 33521Helical; Potential
Transmembrane342 – 36221Helical; Potential
Transmembrane369 – 38921Helical; Potential
Transmembrane407 – 42721Helical; Potential
Compositional bias241 – 2499Poly-Glu

Amino acid modifications

Glycosylation1781N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence45 – 167123WSLPS…LVQGV → EWEGGTGKRGAGMPRKVACG SSLSLSHCAPDMASFLPCRL EPPLIPLCGCGAGKPGSAGG DPVEAAGPGQGRAGPHPGGT GAECSGHSPAGPSVAPRGPS GRAAPLCGLPNSGLGVGNGL LYL in isoform 2.
VSP_039888
Alternative sequence168 – 448281Missing in isoform 2.
VSP_039889
Natural variant701Q → R Riboflavin transport is unaffected. Ref.2 Ref.3 Ref.5 Ref.6 Ref.8
Corresponds to variant rs346822 [ dbSNP | Ensembl ].
VAR_028361
Natural variant2711A → V. Ref.6 Ref.8
Corresponds to variant rs346821 [ dbSNP | Ensembl ].
VAR_028362
Natural variant2961V → M Riboflavin transport is unaffected. Ref.8
Corresponds to variant rs2304445 [ dbSNP | Ensembl ].
VAR_028363

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 5, 2010. Version 2.
Checksum: B9D2EDEE75405668

FASTA44846,317
        10         20         30         40         50         60 
MAAPTLGRLV LTHLLVALFG MGSWAAVNGI WVELPVVVKD LPEGWSLPSY LSVVVALGNL 

        70         80         90        100        110        120 
GLLVVTLWRQ LAPGKGEQVP IQVVQVLSVV GTALLAPLWH HVAPVAGQLH SVAFLTLALV 

       130        140        150        160        170        180 
LAMACCTSNV TFLPFLSHLP PPFLRSFFLG QGLSALLPCV LALVQGVGRL ECPPAPTNGT 

       190        200        210        220        230        240 
SGPPLDFPER FPASTFFWAL TALLVTSAAA FRGLLLLLPS LPSVTTGGSG PELQLGSPGA 

       250        260        270        280        290        300 
EEEEKEEEEA LPLQEPPSQA AGTIPGPDPE AHQLFSAHGA FLLGLMAFTS AVTNGVLPSV 

       310        320        330        340        350        360 
QSFSCLPYGR LAYHLAVVLG SAANPLACFL AMGVLCRSLA GLVGLSLLGM LFGAYLMALA 

       370        380        390        400        410        420 
ILSPCPPLVG TTAGVVLVVL SWVLCLCVFS YVKVAASSLL HGGGRPALLA AGVAIQVGSL 

       430        440 
LGAGAMFPPT SIYHVFQSRK DCVDPCGP 

« Hide

Isoform 2 (RFT1sv) [UniParc].

Checksum: BADFC9E5E1C865E9
Show »

FASTA16716,360

References

« Hide 'large scale' references
[1]"Identification of receptors for pig endogenous retrovirus."
Ericsson T.A., Takeuchi Y., Templin C., Quinn G., Farhadian S.F., Wood J.C., Oldmixon B.A., Suling K.M., Ishii J.K., Kitagawa Y., Miyazawa T., Salomon D.R., Weiss R.A., Patience C.
Proc. Natl. Acad. Sci. U.S.A. 100:6759-6764(2003) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS11066.1. [Q9NWF4-1]
RefSeqNP_001098047.1. NM_001104577.1. [Q9NWF4-1]
NP_060456.3. NM_017986.3. [Q9NWF4-1]
UniGeneHs.632247.

3D structure databases

ProteinModelPortalQ9NWF4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000254853.

Protein family/group databases

TCDB9.A.53.1.1. the eukaryotic riboflavin transporter (e-rft) family.

PTM databases

PhosphoSiteQ9NWF4.

Polymorphism databases

DMDM308153487.

Proteomic databases

PaxDbQ9NWF4.
PRIDEQ9NWF4.

Protocols and materials databases

DNASU55065.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000254853; ENSP00000254853; ENSG00000132517. [Q9NWF4-1]
ENST00000424747; ENSP00000399979; ENSG00000132517. [Q9NWF4-1]
GeneID55065.
KEGGhsa:55065.
UCSCuc002gao.4. human. [Q9NWF4-1]

Organism-specific databases

CTD55065.
GeneCardsGC17M004936.
H-InvDBHIX0023130.
HGNCHGNC:30225. SLC52A1.
HPACAB011449.
MIM607883. gene.
615026. phenotype.
neXtProtNX_Q9NWF4.
Orphanet329942. Transient neonatal multiple acyl-CoA dehydrogenase deficiency.
PharmGKBPA134991217.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG326568.
HOGENOMHOG000247012.
HOVERGENHBG051170.
InParanoidQ9NWF4.
OMAPLWHHVA.
OrthoDBEOG7XDBFX.
PhylomeDBQ9NWF4.
TreeFamTF314820.

Gene expression databases

ArrayExpressQ9NWF4.
BgeeQ9NWF4.
CleanExHS_GPR172B.
GenevestigatorQ9NWF4.

Family and domain databases

InterProIPR009357. Endogenous_retrovirus_rcpt.
[Graphical view]
PANTHERPTHR12929. PTHR12929. 1 hit.
PfamPF06237. DUF1011. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi55065.
NextBio58569.
PROQ9NWF4.
SOURCESearch...

Entry information

Entry nameS52A1_HUMAN
AccessionPrimary (citable) accession number: Q9NWF4
Secondary accession number(s): B5MEV1 expand/collapse secondary AC list , B5MEV2, Q6P9E0, Q86UT0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: October 5, 2010
Last modified: July 9, 2014
This is version 91 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM