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Solute carrier family 52, riboflavin transporter, member 2 (Porcine endogenous retrovirus A receptor 1) (PERV-A receptor 1) (Protein GPR172A) (Riboflavin transporter 3) (hRFT3)

 S52A2_HUMAN             Reviewed;         445 AA.
Q9HAB3; A8K6B6; D3DWL8; G1UCY1; Q86UT1;
11-OCT-2005, integrated into UniProtKB/Swiss-Prot.
01-MAR-2001, sequence version 1.
12-AUG-2020, entry version 143.
RecName: Full=Solute carrier family 52, riboflavin transporter, member 2;
AltName: Full=Porcine endogenous retrovirus A receptor 1 {ECO:0000303|PubMed:12740431};
Short=PERV-A receptor 1 {ECO:0000303|PubMed:12740431};
AltName: Full=Protein GPR172A;
AltName: Full=Riboflavin transporter 3;
Short=hRFT3;
Name=SLC52A2; Synonyms=GPR172A, PAR1, RFT3;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND FUNCTION AS A VIRAL
RECEPTOR (MICROBIAL INFECTION).
PubMed=12740431; DOI=10.1073/pnas.1138025100;
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.;
"Identification of receptors for pig endogenous retrovirus.";
Proc. Natl. Acad. Sci. U.S.A. 100:6759-6764(2003).
[2]
NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR
LOCATION, TISSUE SPECIFICITY, AND BIOPHYSICOCHEMICAL PROPERTIES.
PubMed=20463145; DOI=10.3945/jn.110.122911;
Yao Y., Yonezawa A., Yoshimatsu H., Masuda S., Katsura T., Inui K.;
"Identification and comparative functional characterization of a new human
riboflavin transporter hRFT3 expressed in the brain.";
J. Nutr. 140:1220-1226(2010).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Embryo, and Placenta;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16421571; DOI=10.1038/nature04406;
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.;
"DNA sequence and analysis of human chromosome 8.";
Nature 439:331-335(2006).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Skin;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project:
the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
FUNCTION, AND SUBCELLULAR LOCATION.
PubMed=17197387; DOI=10.1096/fj.06-6509com;
Andriamampandry C., Taleb O., Kemmel V., Humbert J.P., Aunis D., Maitre M.;
"Cloning and functional characterization of a gamma-hydroxybutyrate
receptor identified in the human brain.";
FASEB J. 21:885-895(2007).
[8]
FUNCTION AS A VIRAL RECEPTOR (MICROBIAL INFECTION).
PubMed=19307586; DOI=10.1073/pnas.0809741106;
Mazari P.M., Linder-Basso D., Sarangi A., Chang Y., Roth M.J.;
"Single-round selection yields a unique retroviral envelope utilizing
GPR172A as its host receptor.";
Proc. Natl. Acad. Sci. U.S.A. 106:5848-5853(2009).
[9]
VARIANT BVVLS2 ARG-306.
PubMed=22740598; DOI=10.1093/brain/aws161;
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.;
"Exome sequencing reveals riboflavin transporter mutations as a cause of
motor neuron disease.";
Brain 135:2875-2882(2012).
[10]
VARIANTS BVVLS2 PRO-123 AND PRO-339, CHARACTERIZATION OF VARIANTS BVVLS2
PRO-123 AND PRO-339, FUNCTION, AND CATALYTIC ACTIVITY.
PubMed=22864630; DOI=10.1007/s10545-012-9513-y;
Haack T.B., Makowski C., Yao Y., Graf E., Hempel M., Wieland T., Tauer U.,
Ahting U., Mayr J.A., Freisinger P., Yoshimatsu H., Inui K., Strom T.M.,
Meitinger T., Yonezawa A., Prokisch H.;
"Impaired riboflavin transport due to missense mutations in SLC52A2 causes
Brown-Vialetto-Van Laere syndrome.";
J. Inherit. Metab. Dis. 35:943-948(2012).
[11]
VARIANTS BVVLS2 PHE-52 AND SER-419, CHARACTERIZATION OF VARIANTS BVVLS2
PHE-52 AND SER-419, FUNCTION, AND CATALYTIC ACTIVITY.
PubMed=23243084; DOI=10.1136/jmedgenet-2012-101204;
Ciccolella M., Corti S., Catteruccia M., Petrini S., Tozzi G., Rizza T.,
Carrozzo R., Nizzardo M., Bordoni A., Ronchi D., D'Amico A., Rizzo C.,
Comi G.P., Bertini E.;
"Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere
disease: two novel mutations.";
J. Med. Genet. 50:104-107(2013).
[12]
VARIANTS BVVLS2 SER-31; ASP-284; CYS-305; ARG-306; PRO-312 AND PRO-339,
CHARACTERIZATION OF VARIANTS BVVLS2 SER-31; ASP-284; CYS-305; ARG-306;
PRO-312 AND PRO-339, FUNCTION, CATALYTIC ACTIVITY, AND SUBCELLULAR
LOCATION.
PubMed=24253200; DOI=10.1093/brain/awt315;
Foley A.R., Menezes M.P., Pandraud A., Gonzalez M.A., Al-Odaib A.,
Abrams A.J., Sugano K., Yonezawa A., Manzur A.Y., Burns J., Hughes I.,
McCullagh B.G., Jungbluth H., Lim M.J., Lin J.P., Megarbane A.,
Urtizberea J.A., Shah A.H., Antony J., Webster R., Broomfield A., Ng J.,
Mathew A.A., O'Byrne J.J., Forman E., Scoto M., Prasad M., O'Brien K.,
Olpin S., Oppenheim M., Hargreaves I., Land J.M., Wang M.X., Carpenter K.,
Horvath R., Straub V., Lek M., Gold W., Farrell M.O., Brandner S.,
Phadke R., Matsubara K., McGarvey M.L., Scherer S.S., Baxter P.S.,
King M.D., Clayton P., Rahman S., Reilly M.M., Ouvrier R.A.,
Christodoulou J., Zuechner S., Muntoni F., Houlden H.;
"Treatable childhood neuronopathy caused by mutations in riboflavin
transporter RFVT2.";
Brain 137:44-56(2014).
[13]
VARIANT BVVLS2 THR-141, CHARACTERIZATION OF VARIANT BVVLS2 THR-141,
FUNCTION, CATALYTIC ACTIVITY, AND SUBCELLULAR LOCATION.
PubMed=27702554; DOI=10.1016/j.cca.2016.09.022;
Udhayabanu T., Subramanian V.S., Teafatiller T., Gowda V.K., Raghavan V.S.,
Varalakshmi P., Said H.M., Ashokkumar B.;
"SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere
syndrome in an Indian patient: First genetically proven case with mutations
in two riboflavin transporters.";
Clin. Chim. Acta 462:210-214(2016).
-!- FUNCTION: Plasma membrane transporter mediating the uptake by cells of
the water soluble vitamin B2/riboflavin that plays a key role in
biochemical oxidation-reduction reactions of the carbohydrate, lipid,
and amino acid metabolism (PubMed:20463145, PubMed:22864630,
PubMed:23243084, PubMed:24253200, PubMed:27702554). Humans are unable
to synthesize vitamin B2/riboflavin and must obtain it via intestinal
absorption (PubMed:20463145). May also act as a receptor for 4-
hydroxybutyrate (Probable). {ECO:0000269|PubMed:20463145,
ECO:0000269|PubMed:22864630, ECO:0000269|PubMed:23243084,
ECO:0000269|PubMed:24253200, ECO:0000269|PubMed:27702554,
ECO:0000303|PubMed:20463145, ECO:0000305|PubMed:17197387}.
-!- FUNCTION: (Microbial infection) In case of infection by retroviruses,
acts as a cell receptor to retroviral envelopes similar to the porcine
endogenous retrovirus (PERV-A). {ECO:0000269|PubMed:12740431,
ECO:0000269|PubMed:19307586}.
-!- CATALYTIC ACTIVITY:
Reaction=riboflavin(in) = riboflavin(out); Xref=Rhea:RHEA:35015,
ChEBI:CHEBI:57986; Evidence={ECO:0000269|PubMed:20463145,
ECO:0000269|PubMed:22864630, ECO:0000269|PubMed:23243084,
ECO:0000269|PubMed:24253200, ECO:0000269|PubMed:27702554};
-!- ACTIVITY REGULATION: Riboflavin transport is Na(+)-independent but
moderately pH-sensitive (PubMed:20463145). Activity is strongly
inhibited by riboflavin analogs, such as lumiflavin (PubMed:20463145).
Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin
mononucleotide (FMN) (PubMed:20463145). {ECO:0000269|PubMed:20463145}.
-!- BIOPHYSICOCHEMICAL PROPERTIES:
Kinetic parameters:
KM=0.33 uM for riboflavin {ECO:0000269|PubMed:20463145};
-!- INTERACTION:
Q9HAB3; Q9UJX2: CDC23; NbExp=3; IntAct=EBI-10309896, EBI-396137;
Q9HAB3; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-10309896, EBI-18304435;
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17197387,
ECO:0000269|PubMed:20463145, ECO:0000269|PubMed:24253200,
ECO:0000269|PubMed:27702554}; Multi-pass membrane protein
{ECO:0000255}.
-!- TISSUE SPECIFICITY: Highly expressed in brain, fetal brain and salivary
gland. Weakly expressed in other tissues. {ECO:0000269|PubMed:12740431,
ECO:0000269|PubMed:20463145}.
-!- 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. {ECO:0000269|PubMed:22740598,
ECO:0000269|PubMed:22864630, ECO:0000269|PubMed:23243084,
ECO:0000269|PubMed:24253200, ECO:0000269|PubMed:27702554}. Note=The
disease is caused by mutations affecting the gene represented in this
entry.
-!- SIMILARITY: Belongs to the riboflavin transporter family.
{ECO:0000305}.
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EMBL; AY070774; AAL59882.1; -; mRNA.
EMBL; AB522904; BAK79010.1; -; mRNA.
EMBL; AK021918; BAB13936.1; -; mRNA.
EMBL; AK027888; BAB55433.1; -; mRNA.
EMBL; AK291581; BAF84270.1; -; mRNA.
EMBL; AF205589; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471162; EAW82115.1; -; Genomic_DNA.
EMBL; CH471162; EAW82116.1; -; Genomic_DNA.
EMBL; BC002917; AAH02917.1; -; mRNA.
CCDS; CCDS6423.1; -.
RefSeq; NP_001240744.1; NM_001253815.1.
RefSeq; NP_001240745.1; NM_001253816.1.
RefSeq; NP_078807.1; NM_024531.4.
RefSeq; XP_006716721.1; XM_006716658.2.
RefSeq; XP_006716722.1; XM_006716659.2.
RefSeq; XP_006716723.1; XM_006716660.2.
RefSeq; XP_016869308.1; XM_017013819.1.
RefSeq; XP_016869309.1; XM_017013820.1.
BioGRID; 122725; 5.
IntAct; Q9HAB3; 6.
MINT; Q9HAB3; -.
STRING; 9606.ENSP00000436768; -.
DrugBank; DB01440; gamma-Hydroxybutyric acid.
TCDB; 2.A.125.1.3; the eukaryotic riboflavin transporter (e-rft) family.
GlyGen; Q9HAB3; 1 site, 2 O-linked glycans (1 site).
iPTMnet; Q9HAB3; -.
PhosphoSitePlus; Q9HAB3; -.
BioMuta; SLC52A2; -.
DMDM; 74734171; -.
EPD; Q9HAB3; -.
jPOST; Q9HAB3; -.
MassIVE; Q9HAB3; -.
PaxDb; Q9HAB3; -.
PeptideAtlas; Q9HAB3; -.
PRIDE; Q9HAB3; -.
ProteomicsDB; 81389; -.
Antibodypedia; 67476; 80 antibodies.
DNASU; 79581; -.
Ensembl; ENST00000329994; ENSP00000333638; ENSG00000185803.
Ensembl; ENST00000402965; ENSP00000385961; ENSG00000185803.
Ensembl; ENST00000527078; ENSP00000434728; ENSG00000185803.
Ensembl; ENST00000530047; ENSP00000435820; ENSG00000185803.
Ensembl; ENST00000643944; ENSP00000496184; ENSG00000185803.
Ensembl; ENST00000644059; ENSP00000494426; ENSG00000285112.
Ensembl; ENST00000644819; ENSP00000495046; ENSG00000285112.
Ensembl; ENST00000645040; ENSP00000495874; ENSG00000285112.
Ensembl; ENST00000645386; ENSP00000495049; ENSG00000285112.
Ensembl; ENST00000646034; ENSP00000495788; ENSG00000285112.
GeneID; 79581; -.
KEGG; hsa:79581; -.
UCSC; uc003zcc.4; human.
CTD; 79581; -.
DisGeNET; 79581; -.
EuPathDB; HostDB:ENSG00000185803.8; -.
GeneCards; SLC52A2; -.
GeneReviews; SLC52A2; -.
HGNC; HGNC:30224; SLC52A2.
HPA; ENSG00000185803; Low tissue specificity.
MalaCards; SLC52A2; -.
MIM; 607882; gene.
MIM; 614707; phenotype.
neXtProt; NX_Q9HAB3; -.
OpenTargets; ENSG00000185803; -.
Orphanet; 95433; Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome.
Orphanet; 97229; Riboflavin transporter deficiency.
PharmGKB; PA134982935; -.
eggNOG; KOG4255; Eukaryota.
GeneTree; ENSGT00390000003774; -.
HOGENOM; CLU_034789_1_0_1; -.
InParanoid; Q9HAB3; -.
KO; K22117; -.
OMA; TFLPFMF; -.
OrthoDB; 757564at2759; -.
PhylomeDB; Q9HAB3; -.
TreeFam; TF314820; -.
PathwayCommons; Q9HAB3; -.
Reactome; R-HSA-196843; Vitamin B2 (riboflavin) metabolism.
BioGRID-ORCS; 79581; 21 hits in 872 CRISPR screens.
ChiTaRS; SLC52A2; human.
GenomeRNAi; 79581; -.
Pharos; Q9HAB3; Tbio.
PRO; PR:Q9HAB3; -.
Proteomes; UP000005640; Chromosome 8.
RNAct; Q9HAB3; protein.
Bgee; ENSG00000185803; Expressed in prostate gland and 216 other tissues.
ExpressionAtlas; Q9HAB3; baseline and differential.
Genevisible; Q9HAB3; HS.
GO; GO:0005887; C:integral component of plasma membrane; IDA:UniProtKB.
GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
GO; GO:0062124; F:4-hydroxybutyrate receptor activity; IDA:UniProtKB.
GO; GO:0032217; F:riboflavin transmembrane transporter activity; IDA:UniProtKB.
GO; GO:0001618; F:virus receptor activity; IEA:UniProtKB-KW.
GO; GO:0006771; P:riboflavin metabolic process; TAS:Reactome.
GO; GO:0032218; P:riboflavin transport; IDA:UniProtKB.
InterPro; IPR009357; Riboflavin_transptr.
PANTHER; PTHR12929; PTHR12929; 1.
Pfam; PF06237; DUF1011; 1.
1: Evidence at protein level;
Cell membrane; Deafness; Disease mutation;
Host cell receptor for virus entry; Membrane; Receptor; Reference proteome;
Transmembrane; Transmembrane helix; Transport.
CHAIN 1..445
/note="Solute carrier family 52, riboflavin transporter,
member 2"
/id="PRO_0000042631"
TRANSMEM 14..34
/note="Helical"
/evidence="ECO:0000255"
TRANSMEM 47..67
/note="Helical"
/evidence="ECO:0000255"
TRANSMEM 86..106
/note="Helical"
/evidence="ECO:0000255"
TRANSMEM 112..132
/note="Helical"
/evidence="ECO:0000255"
TRANSMEM 147..167
/note="Helical"
/evidence="ECO:0000255"
TRANSMEM 196..216
/note="Helical"
/evidence="ECO:0000255"
TRANSMEM 277..297
/note="Helical"
/evidence="ECO:0000255"
TRANSMEM 312..332
/note="Helical"
/evidence="ECO:0000255"
TRANSMEM 339..359
/note="Helical"
/evidence="ECO:0000255"
TRANSMEM 366..386
/note="Helical"
/evidence="ECO:0000255"
TRANSMEM 404..424
/note="Helical"
/evidence="ECO:0000255"
COMPBIAS 219..222
/note="Poly-Pro"
VARIANT 31
/note="W -> S (in BVVLS2; strong decrease in riboflavin
transport; no effect on localization to plasma membrane; no
effect on protein abundance; dbSNP:rs797045199)"
/evidence="ECO:0000269|PubMed:24253200"
/id="VAR_077433"
VARIANT 52
/note="S -> F (in BVVLS2; decreased riboflavin transport;
dbSNP:rs397514657)"
/evidence="ECO:0000269|PubMed:23243084"
/id="VAR_077434"
VARIANT 123
/note="L -> P (in BVVLS2; strongly decreased riboflavin
transport; dbSNP:rs397514538)"
/evidence="ECO:0000269|PubMed:22864630"
/id="VAR_077435"
VARIANT 141
/note="P -> T (in BVVLS2; decreased riboflavin transport;
no effect on localization to plasma membrane;
dbSNP:rs377740960)"
/evidence="ECO:0000269|PubMed:27702554"
/id="VAR_077436"
VARIANT 284
/note="A -> D (in BVVLS2; loss of riboflavin transport;
loss of localization to plasma membrane; no effect on
protein abundance; dbSNP:rs398123067)"
/evidence="ECO:0000269|PubMed:24253200"
/id="VAR_077437"
VARIANT 305
/note="Y -> C (in BVVLS2; decreased riboflavin transport;
decreased localization to plasma membrane; no effect on
protein abundance; dbSNP:rs398123068)"
/evidence="ECO:0000269|PubMed:24253200"
/id="VAR_077438"
VARIANT 306
/note="G -> R (in BVVLS2; decreased riboflavin transport;
decreased localization to plasma membrane; no effect on
protein abundance; dbSNP:rs398124641)"
/evidence="ECO:0000269|PubMed:22740598,
ECO:0000269|PubMed:24253200"
/id="VAR_068694"
VARIANT 312
/note="L -> P (in BVVLS2; decreased riboflavin transport;
decreased localization to plasma membrane; no effect on
protein abundance; dbSNP:rs754320812)"
/evidence="ECO:0000269|PubMed:24253200"
/id="VAR_077439"
VARIANT 339
/note="L -> P (in BVVLS2; loss of riboflavin transport;
loss of localization to plasma membrane; no effect on
protein abundance; dbSNP:rs148234606)"
/evidence="ECO:0000269|PubMed:22864630,
ECO:0000269|PubMed:24253200"
/id="VAR_077440"
VARIANT 419
/note="G -> S (in BVVLS2; decreased riboflavin transport;
dbSNP:rs397514658)"
/evidence="ECO:0000269|PubMed:23243084"
/id="VAR_077441"
CONFLICT 341
/note="G -> S (in Ref. 1; AAL59882)"
/evidence="ECO:0000305"
SEQUENCE 445 AA; 45777 MW; B61421B956E44F84 CRC64;
MAAPTPARPV LTHLLVALFG MGSWAAVNGI WVELPVVVKE LPEGWSLPSY VSVLVALGNL
GLLVVTLWRR LAPGKDEQVP IRVVQVLGMV GTALLASLWH HVAPVAGQLH SVAFLALAFV
LALACCASNV TFLPFLSHLP PRFLRSFFLG QGLSALLPCV LALVQGVGRL ECPPAPINGT
PGPPLDFLER FPASTFFWAL TALLVASAAA FQGLLLLLPP PPSVPTGELG SGLQVGAPGA
EEEVEESSPL QEPPSQAAGT TPGPDPKAYQ LLSARSACLL GLLAATNALT NGVLPAVQSF
SCLPYGRLAY HLAVVLGSAA NPLACFLAMG VLCRSLAGLG GLSLLGVFCG GYLMALAVLS
PCPPLVGTSA GVVLVVLSWV LCLGVFSYVK VAASSLLHGG GRPALLAAGV AIQVGSLLGA
VAMFPPTSIY HVFHSRKDCA DPCDS


Related products :

Catalog number Product name Quantity
EIAAB34417 GPR172A,Homo sapiens,hRFT3,Human,PAR1,PERV-A receptor 1,Porcine endogenous retrovirus A receptor 1,Protein GPR172A,RFT3,Riboflavin transporter 3
EIAAB34409 GPR172B,Homo sapiens,hRFT1,Human,PAR2,PERV-A receptor 2,Porcine endogenous retrovirus A receptor 2,Protein GPR172B,RFT1,Riboflavin transporter 1
EIAAB34408 Gpr172b,Mouse,mRFT1,Mus musculus,PERV-A receptor 2 homolog,Porcine endogenous retrovirus A receptor 2 homolog,Protein GPR172B,Rft1,Riboflavin transporter 1
EIAAB34410 Gpr172b,Porcine endogenous retrovirus A receptor 2,Protein GPR172B,Rat,Rattus norvegicus,Rft1,Riboflavin transporter 1,rRFT1
EIAAB34407 Endogenous retrovirus A receptor,GPR172B,Pig,Protein GPR172B,RFT1,Riboflavin transporter 1,Sus scrofa
E1209b Pig ELISA Kit FOR Solute carrier family 52, riboflavin transporter, member 2 96T
E1198m Rat ELISA Kit FOR Solute carrier family 52, riboflavin transporter, member 3 96T
E1253h Human ELISA Kit FOR Solute carrier family 52, riboflavin transporter, member 3 96T
EIAAB09871 Atrc1,CAT1,CAT-1,Ecotropic retroviral leukemia receptor,Ecotropic retrovirus receptor,ERR,High affinity cationic amino acid transporter 1,Mouse,Mus musculus,Rec-1,Slc7a1,Solute carrier family 7 member
EIAAB09870 Atrc1,CAT1,CAT-1,Ecotropic retroviral leukemia receptor,Ecotropic retrovirus receptor,ERR,High affinity cationic amino acid transporter 1,Rat,Rattus norvegicus,Slc7a1,Solute carrier family 7 member 1,
18-003-43732 Neutral amino acid transporter B(0) - ATB(0); Solute carrier family 1 member 5; Sodium-dependent neutral amino acid transporter type 2; RD114_simian type D retrovirus receptor; Baboon M7 virus recepto 0.1 mg Protein A
EIAAB39157 Matr1,Matrin F_G 1,PGT,Prostaglandin transporter,Rat,Rattus norvegicus,Slc21a2,Slco2a1,Solute carrier family 21 member 2,Solute carrier organic anion transporter family member 2A1
EIAAB39156 Homo sapiens,Human,OATP2A1,PGT,Prostaglandin transporter,SLC21A2,SLCO2A1,Solute carrier family 21 member 2,Solute carrier organic anion transporter family member 2A1
EIAAB39155 Mouse,Mus musculus,Oatp2a1,PGT,Prostaglandin transporter,Slc21a2,Slco2a1,Solute carrier family 21 member 2,Solute carrier organic anion transporter family member 2A1
EIAAB39171 Homo sapiens,Human,OATP5A1,OATPRP4,OATP-RP4,Organic anion transporter polypeptide-related protein 4,SLC21A15,SLCO5A1,Solute carrier family 21 member 15,Solute carrier organic anion transporter family
EIAAB36689 Phosphate transporter 2,Pit2,PiT-2,Ram1,RAM-1,Rat,Rattus norvegicus,Receptor for amphitropic viruses 1,Slc20a2,Sodium-dependent phosphate transporter 2,Solute carrier family 20 member 2
EIAAB36707 Ergothioneine transporter,ET transporter,ETT,Homo sapiens,Human,OCTN1,Organic cation_carnitine transporter 1,SLC22A4,Solute carrier family 22 member 4,UT2H
EIAAB39150 Liver-specific organic anion transporter 1,LST-1,Mouse,Mus musculus,Oatp1b2,Slc21a10,SLC21A6,Slco1b2,Solute carrier family 21 member 10,Solute carrier organic anion transporter family member 1B2
EIAAB36639 Homo sapiens,Human,OCTP,Osteoclast transporter,Peptide transporter 3,Peptide_histidine transporter 2,PHT2,PTR3,SLC15A3,Solute carrier family 15 member 3
EIAAB30131 Bos taurus,Bovine,HCP1,Heme carrier protein 1,PCFT,PCFT_HCP1,Proton-coupled folate transporter,Retinal pigment epithelium transporter,SLC46A1,Solute carrier family 46 member 1,TRPE
EIAAB39158 Oatp2b1,Organic anion transporter moatp1,Rat,Rattus norvegicus,Slc21a9,Slco2b1,Solute carrier family 21 member 9,Solute carrier organic anion transporter family member 2B1
EIAAB36746 24p3 receptor,24p3R,Boct,Brain-type organic cation transporter,Lipocalin-2 receptor,Mouse,Mus musculus,Slc22a17,Solute carrier family 22 member 17
EIAAB12295 Eaat1,Excitatory amino acid transporter 1,GLAST-1,Glial glutamate transporter,Rat,Rattus norvegicus,Slc1a3,Sodium-dependent glutamate_aspartate transporter 1,Solute carrier family 1 member 3
EIAAB39141 OAT-K1,OAT-K2,Oatp1a3,Rat,Rattus norvegicus,rOAT-K,Slc21a4,Slco1a3,Sodium-independent organic anion transporter K1,Solute carrier family 21 member 4,Solute carrier organic anion transporter family mem
EIAAB36745 24p3 receptor,24p3R,Boct,Boit,Brain-type organic cation transporter,Lipocalin-2 receptor,Rat,Rattus norvegicus,Slc22a17,Solute carrier family 22 member 17
Pathways :
WP1713: Two-component system
WP2347: vitamin B5 (pantothenate) and CoA biosynthesis Pathway
WP1689: Porphyrin and chlorophyll metabolism
WP1493: Carbon assimilation C4 pathway
WP2292: Chemokine signaling pathway
WP1616: ABC transporters
WP2272: Pathogenic Escherichia coli infection
WP1004: Kit Receptor Signaling Pathway
WP1183: Toll-like receptor signaling pathway
WP313: Signaling of Hepatocyte Growth Factor Receptor
WP88: Toll Like Receptor signaling
WP1249: EPO Receptor Signaling
WP352: T Cell Receptor Signaling Pathway
WP897: Androgen receptor signaling pathway
WP1025: B Cell Receptor Signaling Pathway
WP147: Kit Receptor Signaling Pathway
WP2339: vitamin B2 (riboflavin) biosynthesis and conversion to FMN and FAD pathway
WP733: Serotonin Receptor 2 and STAT3 Signaling
WP1502: Mitochondrial biogenesis
WP1781: Advanced glycosylation endproduct receptor signaling
WP768: EPO Receptor Signaling
WP1309: Toll-like receptor signaling pathway
WP211: BMP signaling pathway
WP407: Kit Receptor Signaling Pathway
WP927: Signaling of Hepatocyte Growth Factor Receptor

Related Genes :
[SLC52A1 GPR172B PAR2 RFT1] Solute carrier family 52, riboflavin transporter, member 1 (Porcine endogenous retrovirus A receptor 2) (PERV-A receptor 2) (huPAR-2) (Protein GPR172B) (Riboflavin transporter 1) (hRFT1)
[SLC52A3 C20orf54 RFT2 RFVT3] Solute carrier family 52, riboflavin transporter, member 3 (Riboflavin transporter 2) (hRFT2)
[SLC1A5 ASCT2 M7V1 RDR RDRC] Neutral amino acid transporter B(0) (ATB(0)) (Baboon M7 virus receptor) (RD114/simian type D retrovirus receptor) (Sodium-dependent neutral amino acid transporter type 2) (Solute carrier family 1 member 5)
[SLC20A2 GLVR2 PIT2] Sodium-dependent phosphate transporter 2 (Gibbon ape leukemia virus receptor 2) (GLVR-2) (Phosphate transporter 2) (PiT-2) (Pit2) (hPit2) (Solute carrier family 20 member 2)
[ERVK-18] Endogenous retrovirus group K member 18 Env polyprotein (Envelope polyprotein) (HERV-K(C1a) envelope protein) (HERV-K110 envelope protein) (HERV-K18 envelope protein) (HERV-K18 superantigen) (HERV-K_1q23.3 provirus ancestral Env polyprotein) (IDDMK1,2 22 envelope protein) (IDDMK1,2 22 superantigen) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]
[Or22b AN12 DOR22A.2 dor67 Or22A.2 CG4231] Odorant receptor 22b
[Slco1a3 Oatp1a3 Slc21a4] Solute carrier organic anion transporter family member 1A3 (OAT-K2) (Sodium-independent organic anion transporter K1) (OAT-K1) (Solute carrier family 21 member 4) (rOAT-K)
[SLC23A2 KIAA0238 NBTL1 SLC23A1 SVCT2 YSPL2] Solute carrier family 23 member 2 (Na(+)/L-ascorbic acid transporter 2) (Nucleobase transporter-like 1 protein) (Sodium-dependent vitamin C transporter 2) (hSVCT2) (Yolk sac permease-like molecule 2)
[SLC22A18 BWR1A BWSCR1A HET IMPT1 ITM ORCTL2 SLC22A1L TSSC5] Solute carrier family 22 member 18 (Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein) (Efflux transporter-like protein) (Imprinted multi-membrane-spanning polyspecific transporter-related protein 1) (Organic cation transporter-like protein 2) (ORCTL-2) (Solute carrier family 22 member 1-like) (Tumor-suppressing STF cDNA 5 protein) (Tumor-suppressing subchromosomal transferable fragment candidate gene 5 protein) (p45-Beckwith-Wiedemann region 1 A) (p45-BWR1A)
[SLCO1B3 LST2 OATP1B3 OATP8 SLC21A8] Solute carrier organic anion transporter family member 1B3 (Liver-specific organic anion transporter 2) (LST-2) (Organic anion transporter 8) (Organic anion-transporting polypeptide 8) (OATP-8) (Solute carrier family 21 member 8)
[Slc22a1 Oct1] Solute carrier family 22 member 1 (Organic cation transporter 1) (rOCT1)
[Slc22a1 Lx1 Oct1] Solute carrier family 22 member 1 (Organic cation transporter 1) (mOCT1)
[SLC22A1 OCT1] Solute carrier family 22 member 1 (Organic cation transporter 1) (hOCT1)
[Slc2a1 Glut1] Solute carrier family 2, facilitated glucose transporter member 1 (Glucose transporter type 1, erythrocyte/brain) (GLUT-1) (GT1)
[SLC2A1 GLUT1] Solute carrier family 2, facilitated glucose transporter member 1 (Glucose transporter type 1, erythrocyte/brain) (GLUT-1) (HepG2 glucose transporter)
[ERV3-1 ERV3] Endogenous retrovirus group 3 member 1 Env polyprotein (ERV-3 envelope protein) (ERV3 envelope protein) (ERV3-1 envelope protein) (Envelope polyprotein) (HERV-R envelope protein) (ERV-R envelope protein) (HERV-R_7q21.2 provirus ancestral Env polyprotein) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]
[SLCO1B1 LST1 OATP1B1 OATP2 OATPC SLC21A6] Solute carrier organic anion transporter family member 1B1 (Liver-specific organic anion transporter 1) (LST-1) (OATP-C) (Sodium-independent organic anion-transporting polypeptide 2) (OATP-2) (Solute carrier family 21 member 6)
[SLC39A14 KIAA0062 ZIP14] Metal cation symporter ZIP14 (LIV-1 subfamily of ZIP zinc transporter 4) (LZT-Hs4) (Solute carrier family 39 member 14) (Zrt- and Irt-like protein 14) (ZIP-14)
[Slco1b2 Oatp1b2 Slc21a10] Solute carrier organic anion transporter family member 1B2 (Liver-specific organic anion transporter 1) (rLST-1) (Sodium-independent organic anion-transporting polypeptide 4) (OATP-4) (Solute carrier family 21 member 10)
[SLC40A1 FPN1 IREG1 SLC11A3 MSTP079] Solute carrier family 40 member 1 (Ferroportin-1) (Iron-regulated transporter 1)
[SLC39A1 IRT1 ZIP1 ZIRTL CGI-08 CGI-71] Zinc transporter ZIP1 (Solute carrier family 39 member 1) (Zinc-iron-regulated transporter-like) (Zrt- and Irt-like protein 1) (ZIP-1) (hZIP1)
[Slc40a1 Fpn1 Ireg1 Slc11a3 Slc39a1] Solute carrier family 40 member 1 (Ferroportin-1) (Iron-regulated transporter 1) (Metal transporter protein 1) (MTP1)
[SLC2A4 GLUT4] Solute carrier family 2, facilitated glucose transporter member 4 (Glucose transporter type 4, insulin-responsive) (GLUT-4)
[Slc2a4 Glut4] Solute carrier family 2, facilitated glucose transporter member 4 (Glucose transporter type 4, insulin-responsive) (GLUT-4)
[SLCO4C1 OATP4C1 OATPX SLC21A20] Solute carrier organic anion transporter family member 4C1 (OATP-H) (Organic anion transporter M1) (OATP-M1) (Solute carrier family 21 member 20)
[SLC23A1 SVCT1 YSPL3] Solute carrier family 23 member 1 (Na(+)/L-ascorbic acid transporter 1) (Sodium-dependent vitamin C transporter 1) (hSVCT1) (Yolk sac permease-like molecule 3)
[Slc2a1 Glut1] Solute carrier family 2, facilitated glucose transporter member 1 (Glucose transporter type 1, erythrocyte/brain) (GLUT-1)
[SLC19A1 FLOT1 RFC1] Reduced folate transporter (FOLT) (Intestinal folate carrier 1) (IFC-1) (Placental folate transporter) (Reduced folate carrier protein) (RFC) (hRFC) (Reduced folate transporter 1) (RFT-1) (Solute carrier family 19 member 1) (hSLC19A1)
[Or22a AN11 DOR22A.1 dor53 Or22A.1 CG12193] Odorant receptor 22a
[SLC22A5 OCTN2] Solute carrier family 22 member 5 (High-affinity sodium-dependent carnitine cotransporter) (Organic cation/carnitine transporter 2)

Bibliography :