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Q9HAB3 (S52A2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 95. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SLC52A2
Synonyms:GPR172A, PAR1, RFT3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length445 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) 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). Ref.1 Ref.2 Ref.7

Subcellular location

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

Tissue specificity

Highly expressed in brain, fetal brain and salivary gland. Weakly expressed in other tissues. Ref.1 Ref.2

Involvement in disease

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.
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=0.33 µM for riboflavin Ref.2

Ontologies

Keywords
   Biological processTransport
   Cellular componentCell membrane
Membrane
   DiseaseDeafness
Disease mutation
   DomainTransmembrane
Transmembrane helix
   Molecular functionHost cell receptor for virus entry
Receptor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processriboflavin transport

Inferred from direct assay Ref.2. Source: UniProtKB

   Cellular_componentintegral component of plasma membrane

Inferred from direct assay Ref.2. Source: UniProtKB

   Molecular_functionriboflavin transporter activity

Inferred from direct assay Ref.2. Source: UniProtKB

virus receptor activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 445445Solute carrier family 52, riboflavin transporter, member 2
PRO_0000042631

Regions

Transmembrane14 – 3421Helical; Potential
Transmembrane47 – 6721Helical; Potential
Transmembrane86 – 10621Helical; Potential
Transmembrane112 – 13221Helical; Potential
Transmembrane147 – 16721Helical; Potential
Transmembrane196 – 21621Helical; Potential
Transmembrane277 – 29721Helical; Potential
Transmembrane312 – 33221Helical; Potential
Transmembrane339 – 35921Helical; Potential
Transmembrane366 – 38621Helical; Potential
Transmembrane404 – 42421Helical; Potential
Compositional bias219 – 2224Poly-Pro

Natural variations

Natural variant3061G → R in BVVLS2. Ref.8
VAR_068694

Experimental info

Sequence conflict3411G → S in AAL59882. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9HAB3 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: B61421B956E44F84

FASTA44545,777
        10         20         30         40         50         60 
MAAPTPARPV LTHLLVALFG MGSWAAVNGI WVELPVVVKE LPEGWSLPSY VSVLVALGNL 

        70         80         90        100        110        120 
GLLVVTLWRR LAPGKDEQVP IRVVQVLGMV GTALLASLWH HVAPVAGQLH SVAFLALAFV 

       130        140        150        160        170        180 
LALACCASNV TFLPFLSHLP PRFLRSFFLG QGLSALLPCV LALVQGVGRL ECPPAPINGT 

       190        200        210        220        230        240 
PGPPLDFLER FPASTFFWAL TALLVASAAA FQGLLLLLPP PPSVPTGELG SGLQVGAPGA 

       250        260        270        280        290        300 
EEEVEESSPL QEPPSQAAGT TPGPDPKAYQ LLSARSACLL GLLAATNALT NGVLPAVQSF 

       310        320        330        340        350        360 
SCLPYGRLAY HLAVVLGSAA NPLACFLAMG VLCRSLAGLG GLSLLGVFCG GYLMALAVLS 

       370        380        390        400        410        420 
PCPPLVGTSA GVVLVVLSWV LCLGVFSYVK VAASSLLHGG GRPALLAAGV AIQVGSLLGA 

       430        440 
VAMFPPTSIY HVFHSRKDCA DPCDS 

« Hide

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], 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. 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].
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. expand/collapse author list , 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]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].
[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]"Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease."
Johnson J.O., Gibbs J.R., Megarbane A., Urtizberea J.A., Hernandez D.G., Foley A.R., Arepalli S., Pandraud A., Simon-Sanchez J., Clayton P., Reilly M.M., Muntoni F., Abramzon Y., Houlden H., Singleton A.B.
Brain 135:2875-2882(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BVVLS2 ARG-306.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001240744.1. NM_001253815.1.
NP_001240745.1. NM_001253816.1.
NP_078807.1. NM_024531.4.
UniGeneHs.6459.
Hs.731710.

3D structure databases

ProteinModelPortalQ9HAB3.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000333638.

Protein family/group databases

TCDB9.A.53.1.3. the eukaryotic riboflavin transporter (e-rft) family.

PTM databases

PhosphoSiteQ9HAB3.

Polymorphism databases

DMDM74734171.

Proteomic databases

PaxDbQ9HAB3.
PRIDEQ9HAB3.

Protocols and materials databases

DNASU79581.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000329994; ENSP00000333638; ENSG00000185803.
ENST00000402965; ENSP00000385961; ENSG00000185803.
ENST00000527078; ENSP00000434728; ENSG00000185803.
ENST00000530047; ENSP00000435820; ENSG00000185803.
ENST00000532887; ENSP00000436768; ENSG00000185803.
ENST00000561937; ENSP00000457772; ENSG00000261042.
ENST00000562273; ENSP00000456755; ENSG00000261042.
ENST00000563713; ENSP00000457799; ENSG00000261042.
ENST00000566505; ENSP00000455014; ENSG00000261042.
ENST00000567429; ENSP00000455251; ENSG00000261042.
GeneID79581.
KEGGhsa:79581.
UCSCuc003zcc.2. human.

Organism-specific databases

CTD79581.
GeneCardsGC08P145577.
HGNCHGNC:30224. SLC52A2.
MIM607882. gene.
614707. phenotype.
neXtProtNX_Q9HAB3.
Orphanet97229. Riboflavin transporter deficiency.
PharmGKBPA134982935.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG326568.
HOGENOMHOG000247012.
HOVERGENHBG051170.
InParanoidQ9HAB3.
OMACADPCDS.
PhylomeDBQ9HAB3.
TreeFamTF314820.

Gene expression databases

ArrayExpressQ9HAB3.
BgeeQ9HAB3.
CleanExHS_GPR172A.
GenevestigatorQ9HAB3.

Family and domain databases

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

Other

GenomeRNAi79581.
NextBio68566.
PROQ9HAB3.
SOURCESearch...

Entry information

Entry nameS52A2_HUMAN
AccessionPrimary (citable) accession number: Q9HAB3
Secondary accession number(s): A8K6B6 expand/collapse secondary AC list , D3DWL8, G1UCY1, Q86UT1
Entry history
Integrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: March 1, 2001
Last modified: April 16, 2014
This is version 95 of the entry and version 1 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 8

Human chromosome 8: entries, gene names and cross-references to MIM