Q9HAB3 (S52A2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	SLC52A2
Synonyms:	GPR172A, PAR1, RFT3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	445 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transport
Cellular component	Cell membrane Membrane
Disease	Deafness Disease mutation
Domain	Transmembrane Transmembrane helix
Molecular function	Host cell receptor for virus entry Receptor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to plasma membrane Inferred from direct assay Ref.2. Source: UniProtKB
Molecular_function	riboflavin transporter activity Inferred from direct assay Ref.2. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 445	445	Solute carrier family 52, riboflavin transporter, member 2		PRO_0000042631
Regions
	Transmembrane	14 – 34	21	Helical; Potential
	Transmembrane	47 – 67	21	Helical; Potential
	Transmembrane	86 – 106	21	Helical; Potential
	Transmembrane	112 – 132	21	Helical; Potential
	Transmembrane	147 – 167	21	Helical; Potential
	Transmembrane	196 – 216	21	Helical; Potential
	Transmembrane	277 – 297	21	Helical; Potential
	Transmembrane	312 – 332	21	Helical; Potential
	Transmembrane	339 – 359	21	Helical; Potential
	Transmembrane	366 – 386	21	Helical; Potential
	Transmembrane	404 – 424	21	Helical; Potential
	Compositional bias	219 – 222	4	Poly-Pro
Natural variations
	Natural variant	306	1	G → R in BVVLS2. Ref.8		VAR_068694
Experimental info
	Sequence conflict	341	1	G → S in AAL59882. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9HAB3 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: B61421B956E44F84	FASTA	445	45,777
	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

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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.

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.
IPI	IPI00002171.
RefSeq	NP_001240744.1. NM_001253815.1. NP_001240745.1. NM_001253816.1. NP_078807.1. NM_024531.4.
UniGene	Hs.6459. Hs.731710.
3D structure databases
ProteinModelPortal	Q9HAB3.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000333638.
PTM databases
PhosphoSite	Q9HAB3.
Polymorphism databases
DMDM	74734171.
Proteomic databases
PaxDb	Q9HAB3.
PRIDE	Q9HAB3.
Protocols and materials databases
DNASU	79581.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000329994; 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.
GeneID	79581.
KEGG	hsa:79581.
UCSC	uc003zcc.2. human.
Organism-specific databases
CTD	79581.
GeneCards	GC08P145577.
HGNC	HGNC:30224. SLC52A2.
MIM	607882. gene. 614707. phenotype.
neXtProt	NX_Q9HAB3.
Orphanet	97229. Brown-Vialetto-van Laere syndrome.
PharmGKB	PA134982935.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG326568.
HOGENOM	HOG000247012.
HOVERGEN	HBG051170.
InParanoid	Q9HAB3.
OMA	SRKDCAD.
OrthoDB	EOG4933JG.
PhylomeDB	Q9HAB3.
Gene expression databases
ArrayExpress	Q9HAB3.
Bgee	Q9HAB3.
CleanEx	HS_GPR172A.
Genevestigator	Q9HAB3.
GermOnline	ENSG00000185803. Homo sapiens.
Family and domain databases
InterPro	IPR009357. Endogenous_retrovirus_rcpt. [Graphical view]
PANTHER	PTHR12929. PTHR12929. 1 hit.
Pfam	PF06237. DUF1011. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	79581.
NextBio	68566.
SOURCE	Search...

Entry information

Entry name

S52A2_HUMAN

Accession

Primary (citable) accession number: Q9HAB3
Secondary accession number(s): A8K6B6 , D3DWL8, G1UCY1, Q86UT1

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 11, 2005
Last sequence update:	March 1, 2001
Last modified:	May 1, 2013
This is version 87 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.