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Solute carrier family 52, riboflavin transporter, member 3 (Riboflavin transporter 2) (hRFT2)

 S52A3_HUMAN             Reviewed;         469 AA.
Q9NQ40; A0A2I6BQ49; A8K6P1; K0A6P4; Q5W1A0; Q5W1A1; Q8NCL7; Q96GD5;
10-JAN-2003, integrated into UniProtKB/Swiss-Prot.
22-NOV-2005, sequence version 4.
12-AUG-2020, entry version 154.
RecName: Full=Solute carrier family 52, riboflavin transporter, member 3;
AltName: Full=Riboflavin transporter 2;
Short=hRFT2;
Name=SLC52A3; Synonyms=C20orf54, RFT2, RFVT3;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
Homo.
NCBI_TaxID=9606;
[1] {ECO:0000312|EMBL:AUI80409.1}
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND SUBCELLULAR LOCATION
(ISOFORMS 1 AND 2).
PubMed=29428966; DOI=10.1007/s00018-018-2757-4;
Long L., Pang X.X., Lei F., Zhang J.S., Wang W., Liao L.D., Xu X.E.,
He J.Z., Wu J.Y., Wu Z.Y., Wang L.D., Lin D.C., Li E.M., Xu L.Y.;
"SLC52A3 expression is activated by NF-kappaB p65/Rel-B and serves as a
prognostic biomarker in esophageal cancer.";
Cell. Mol. Life Sci. 75:2643-2661(2018).
[2] {ECO:0000312|EMBL:AFS68799.1}
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Huang Z.G., Hong Q.N., Lun J.X., Lin W., Yang W., Deng Q.L., He Z.,
Lai Y.X., Xing J.M., Liu Y.Q.;
"Clone and bioinformatics analysis on the coding region of c20orf54 gene.";
Submitted (AUG-2012) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Mammary gland, 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=11780052; DOI=10.1038/414865a;
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 20.";
Nature 414:865-871(2001).
[5] {ECO:0000312|EMBL:EAX10658.1}
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] (ISOFORM 1), AND VARIANTS LEU-267;
MET-278 AND VAL-303.
TISSUE=Pancreas;
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]
IDENTIFICATION.
PubMed=19122205; DOI=10.1093/jb/mvn181;
Yamamoto S., Inoue K., Ohta K.Y., Fukatsu R., Maeda J.Y., Yoshida Y.,
Yuasa H.;
"Identification and functional characterization of rat riboflavin
transporter 2.";
J. Biochem. 145:437-443(2009).
[8]
FUNCTION, CATALYTIC ACTIVITY, ACTIVITY REGULATION, BIOPHYSICOCHEMICAL
PROPERTIES, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
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).
[9]
SUBCELLULAR LOCATION, TOPOLOGY, DISULFIDE BOND, AND MUTAGENESIS OF CYS-326;
CYS-386; ARG-455; CYS-463 AND CYS-467.
PubMed=21512156; DOI=10.1152/ajpgi.00120.2011;
Subramanian V.S., Rapp L., Marchant J.S., Said H.M.;
"Role of cysteine residues in cell surface expression of the human
riboflavin transporter-2 (hRFT2) in intestinal epithelial cells.";
Am. J. Physiol. 301:G100-G109(2011).
[10]
INVOLVEMENT IN FALOND, INVOLVEMENT IN BVVLS1, AND VARIANT BVVLS1 ARG-17.
PubMed=21110228; DOI=10.1007/s10545-010-9242-z;
Bosch A.M., Abeling N.G., Ijlst L., Knoester H., van der Pol W.L.,
Stroomer A.E., Wanders R.J., Visser G., Wijburg F.A., Duran M.,
Waterham H.R.;
"Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a
riboflavin transporter defect mimicking mild MADD: a new inborn error of
metabolism with potential treatment.";
J. Inherit. Metab. Dis. 34:159-164(2011).
[11]
FUNCTION, CATALYTIC ACTIVITY, ACTIVITY REGULATION, AND SUBCELLULAR
LOCATION.
PubMed=24264046; DOI=10.1152/ajpgi.00349.2013;
Yoshimatsu H., Yonezawa A., Yao Y., Sugano K., Nakagawa S., Omura T.,
Matsubara K.;
"Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin
absorption.";
Am. J. Physiol. 306:G102-G110(2014).
[12]
VARIANTS BVVLS1 LYS-36; TRP-132; LEU-224; ALA-413 AND LEU-457, AND VARIANT
MET-350.
PubMed=20206331; DOI=10.1016/j.ajhg.2010.02.006;
Green P., Wiseman M., Crow Y.J., Houlden H., Riphagen S., Lin J.P.,
Raymond F.L., Childs A.M., Sheridan E., Edwards S., Josifova D.J.;
"Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is
caused by mutations in c20orf54.";
Am. J. Hum. Genet. 86:485-489(2010).
[13]
VARIANTS BVVLS1 THR-28 AND LYS-71.
PubMed=20920669; DOI=10.1016/j.ajhg.2010.05.021;
Johnson J.O., Gibbs J.R., Van Maldergem L., Houlden H., Singleton A.B.;
"Exome sequencing in Brown-Vialetto-van Laere syndrome.";
Am. J. Hum. Genet. 87:567-569(2010).
[14]
VARIANTS BVVLS1 SER-21; HIS-220; VAL-312 AND ASP-375.
PubMed=22718020; DOI=10.1038/jhg.2012.70;
Dezfouli M.A., Yadegari S., Nafissi S., Elahi E.;
"Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere
syndrome patients.";
J. Hum. Genet. 57:613-617(2012).
[15]
CHARACTERIZATION OF VARIANTS BVVLS1 ARG-17; THR-28; LYS-36; LYS-71 AND
TRP-132, CHARACTERIZATION OF VARIANT MET-350, FUNCTION, CATALYTIC ACTIVITY,
AND SUBCELLULAR LOCATION.
PubMed=22273710; DOI=10.1016/j.ymgme.2011.12.021;
Nabokina S.M., Subramanian V.S., Said H.M.;
"Effect of clinical mutations on functionality of the human riboflavin
transporter-2 (hRFT-2).";
Mol. Genet. Metab. 105:652-657(2012).
[16]
VARIANTS BVVLS1 ASP-58; TRP-266; SER-319 AND ALA-413, AND VARIANT VAL-303.
PubMed=22824638; DOI=10.1016/j.nmd.2012.05.007;
Ciccolella M., Catteruccia M., Benedetti S., Moroni I., Uziel G.,
Pantaleoni C., Chiapparini L., Bizzi A., D'Amico A., Fattori F.,
Salsano M.L., Pastore A., Tozzi G., Piemonte F., Bertini E.;
"Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical,
biochemical and genetic study.";
Neuromuscul. Disord. 22:1075-1082(2012).
[17]
VARIANT BVVLS1 VAL-330.
PubMed=22633641; DOI=10.1016/j.pediatrneurol.2012.03.008;
Koy A., Pillekamp F., Hoehn T., Waterham H., Klee D., Mayatepek E.,
Assmann B.;
"Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with
a novel mutation in the C20orf54 gene.";
Pediatr. Neurol. 46:407-409(2012).
[18]
VARIANT BVVLS1 SER-21, CHARACTERIZATION OF VARIANT BVVLS1 SER-21, 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:22273710,
PubMed:24264046, PubMed:27702554). Humans are unable to synthesize
vitamin B2/riboflavin and must obtain it via intestinal absorption
(PubMed:20463145). {ECO:0000269|PubMed:20463145,
ECO:0000269|PubMed:22273710, ECO:0000269|PubMed:24264046,
ECO:0000269|PubMed:27702554, ECO:0000303|PubMed:20463145}.
-!- CATALYTIC ACTIVITY:
Reaction=riboflavin(in) = riboflavin(out); Xref=Rhea:RHEA:35015,
ChEBI:CHEBI:57986; Evidence={ECO:0000269|PubMed:20463145,
ECO:0000269|PubMed:22273710, ECO:0000269|PubMed:24264046,
ECO:0000269|PubMed:27702554};
-!- ACTIVITY REGULATION: Activity is strongly inhibited by riboflavin
analogs, such as lumiflavin, flavin mononucleotide (FMN), flavin
adenine dinucleotide (FAD), by methylene blue, and to a lesser extent
by amiloride. Riboflavin transport is Na(+)-independent at low pH but
significantly reduced by Na(+) depletion under neutral pH conditions.
{ECO:0000269|PubMed:20463145, ECO:0000269|PubMed:24264046}.
-!- BIOPHYSICOCHEMICAL PROPERTIES:
Kinetic parameters:
KM=0.98 uM for riboflavin {ECO:0000269|PubMed:20463145};
-!- SUBCELLULAR LOCATION: Apical cell membrane
{ECO:0000269|PubMed:20463145, ECO:0000269|PubMed:21512156,
ECO:0000269|PubMed:24264046}; Multi-pass membrane protein
{ECO:0000269|PubMed:20463145}. Cell membrane
{ECO:0000269|PubMed:22273710, ECO:0000269|PubMed:27702554}.
-!- SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane
{ECO:0000269|PubMed:29428966}; Multi-pass membrane protein
{ECO:0000255}. Nucleus membrane {ECO:0000269|PubMed:29428966}; Multi-
pass membrane protein. Cytoplasm {ECO:0000269|PubMed:29428966}.
-!- SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm
{ECO:0000269|PubMed:29428966}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1; Synonyms=SLC52A3a {ECO:0000303|PubMed:29428966};
IsoId=Q9NQ40-1; Sequence=Displayed;
Name=2; Synonyms=SLC52A3b {ECO:0000303|PubMed:29428966};
IsoId=Q9NQ40-2; Sequence=VSP_003814, VSP_003815;
-!- TISSUE SPECIFICITY: Predominantly expressed in testis. Highly expressed
in small intestine and prostate. {ECO:0000269|PubMed:20463145}.
-!- DISEASE: Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]: A
rare neurologic disorder characterized by sensorineural hearing loss
and a variety of cranial nerve palsies, which develop over a relatively
short period of time in a previously healthy individual. Sensorineural
hearing loss may precede the neurological signs. The course is
invariably progressive, but the rate of decline is variable within and
between families. With disease evolution, long tract signs, lower motor
neuron signs, cerebellar ataxia and lower cranial nerve (III-VI)
palsies develop, giving rise to a complex picture resembling
amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory
compromise are some of the most distressing features, leading to
recurrent chest infections and respiratory failure, which are often the
cause of patients' demise. {ECO:0000269|PubMed:20206331,
ECO:0000269|PubMed:20920669, ECO:0000269|PubMed:21110228,
ECO:0000269|PubMed:22273710, ECO:0000269|PubMed:22633641,
ECO:0000269|PubMed:22718020, ECO:0000269|PubMed:22824638,
ECO:0000269|PubMed:27702554}. Note=The disease is caused by mutations
affecting the gene represented in this entry.
-!- DISEASE: Fazio-Londe disease (FALOND) [MIM:211500]: A rare neurological
disease characterized by progressive weakness of the muscles innervated
by cranial nerves of the lower brain stem. It may present in childhood
with severe neurological deterioration with hypotonia, respiratory
insufficiency leading to premature death, or later in life with bulbar
weakness which progresses to involve motor neurons throughout the
neuroaxis. Clinical manifestations include dysarthria, dysphagia,
facial weakness, tongue weakness, and fasciculations of the tongue and
facial muscles. {ECO:0000269|PubMed:21110228}. Note=The disease is
caused by mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the riboflavin transporter family.
{ECO:0000305}.
-!- CAUTION: It is uncertain whether Met-1 or Met-5 is the initiator.
{ECO:0000305}.
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EMBL; KY978478; AUI80409.1; -; mRNA.
EMBL; KY978479; AUI80410.1; -; mRNA.
EMBL; JX478249; AFS68799.1; -; mRNA.
EMBL; AK074650; BAC11113.1; -; mRNA.
EMBL; AK291706; BAF84395.1; -; mRNA.
EMBL; AL118502; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471133; EAX10658.1; -; Genomic_DNA.
EMBL; CH471133; EAX10659.1; -; Genomic_DNA.
EMBL; BC009750; AAH09750.2; -; mRNA.
CCDS; CCDS13007.1; -. [Q9NQ40-1]
RefSeq; NP_212134.3; NM_033409.3. [Q9NQ40-1]
RefSeq; XP_005260712.1; XM_005260655.3.
RefSeq; XP_011527450.1; XM_011529148.1.
BioGRID; 125241; 1.
STRING; 9606.ENSP00000217254; -.
TCDB; 2.A.125.1.2; the eukaryotic riboflavin transporter (e-rft) family.
GlyGen; Q9NQ40; 3 sites, 1 O-linked glycan (1 site).
iPTMnet; Q9NQ40; -.
PhosphoSitePlus; Q9NQ40; -.
BioMuta; SLC52A3; -.
DMDM; 82654931; -.
MassIVE; Q9NQ40; -.
PaxDb; Q9NQ40; -.
PeptideAtlas; Q9NQ40; -.
PRIDE; Q9NQ40; -.
ProteomicsDB; 82078; -. [Q9NQ40-1]
ProteomicsDB; 82079; -. [Q9NQ40-2]
Antibodypedia; 54121; 55 antibodies.
DNASU; 113278; -.
Ensembl; ENST00000217254; ENSP00000217254; ENSG00000101276. [Q9NQ40-1]
Ensembl; ENST00000381944; ENSP00000371370; ENSG00000101276. [Q9NQ40-2]
Ensembl; ENST00000488495; ENSP00000494009; ENSG00000101276. [Q9NQ40-1]
Ensembl; ENST00000645534; ENSP00000494193; ENSG00000101276. [Q9NQ40-1]
GeneID; 113278; -.
KEGG; hsa:113278; -.
UCSC; uc002wed.5; human. [Q9NQ40-1]
CTD; 113278; -.
DisGeNET; 113278; -.
EuPathDB; HostDB:ENSG00000101276.14; -.
GeneCards; SLC52A3; -.
GeneReviews; SLC52A3; -.
HGNC; HGNC:16187; SLC52A3.
HPA; ENSG00000101276; Tissue enhanced (testis).
MalaCards; SLC52A3; -.
MIM; 211500; phenotype.
MIM; 211530; phenotype.
MIM; 613350; gene.
neXtProt; NX_Q9NQ40; -.
OpenTargets; ENSG00000101276; -.
Orphanet; 97229; Riboflavin transporter deficiency.
PharmGKB; PA25764; -.
eggNOG; KOG4255; Eukaryota.
GeneTree; ENSGT00390000003774; -.
HOGENOM; CLU_034789_1_0_1; -.
InParanoid; Q9NQ40; -.
KO; K14620; -.
OMA; SWVAVNG; -.
OrthoDB; 757564at2759; -.
PhylomeDB; Q9NQ40; -.
TreeFam; TF314820; -.
PathwayCommons; Q9NQ40; -.
Reactome; R-HSA-196843; Vitamin B2 (riboflavin) metabolism.
BioGRID-ORCS; 113278; 5 hits in 865 CRISPR screens.
ChiTaRS; SLC52A3; human.
GeneWiki; C20orf54; -.
GenomeRNAi; 113278; -.
Pharos; Q9NQ40; Tbio.
PRO; PR:Q9NQ40; -.
Proteomes; UP000005640; Chromosome 20.
RNAct; Q9NQ40; protein.
Bgee; ENSG00000101276; Expressed in testis and 148 other tissues.
Genevisible; Q9NQ40; HS.
GO; GO:0016324; C:apical plasma membrane; IEA:UniProtKB-SubCell.
GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
GO; GO:0005887; C:integral component of plasma membrane; IDA:UniProtKB.
GO; GO:0031965; C:nuclear membrane; IEA:UniProtKB-SubCell.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
GO; GO:0032217; F:riboflavin transmembrane transporter activity; IDA:UniProtKB.
GO; GO:0034605; P:cellular response to heat; IEA:Ensembl.
GO; GO:0006771; P:riboflavin metabolic process; TAS:Reactome.
GO; GO:0032218; P:riboflavin transport; IDA:UniProtKB.
GO; GO:0007605; P:sensory perception of sound; IMP:UniProtKB.
InterPro; IPR009357; Riboflavin_transptr.
PANTHER; PTHR12929; PTHR12929; 1.
Pfam; PF06237; DUF1011; 1.
1: Evidence at protein level;
Alternative splicing; Cell membrane; Cytoplasm; Deafness; Disease mutation;
Disulfide bond; Glycoprotein; Membrane; Nucleus; Phosphoprotein;
Polymorphism; Reference proteome; Transmembrane; Transmembrane helix;
Transport.
CHAIN 1..469
/note="Solute carrier family 52, riboflavin transporter,
member 3"
/id="PRO_0000042636"
TOPO_DOM 1..2
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 3..23
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 24..43
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 44..64
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 65..71
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 72..92
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 93..97
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 98..118
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 119..137
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 138..158
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 159..220
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 221..241
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 242..292
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 293..313
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 314..335
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 336..356
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 357..359
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 360..380
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 381..396
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 397..417
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 418..427
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 428..448
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 449..469
/note="Extracellular"
/evidence="ECO:0000255"
MOD_RES 251
/note="Phosphoserine"
/evidence="ECO:0000250|UniProtKB:Q4FZU9"
CARBOHYD 94
/note="N-linked (GlcNAc...) asparagine"
/evidence="ECO:0000255"
CARBOHYD 168
/note="N-linked (GlcNAc...) asparagine"
/evidence="ECO:0000255"
DISULFID 386..463
/evidence="ECO:0000305|PubMed:21512156"
VAR_SEQ 401..415
/note="ASWVLFSGCLSYVKV -> SIRPVGLLPLRTPHP (in isoform 2)"
/evidence="ECO:0000269|PubMed:29428966,
ECO:0000303|PubMed:14702039"
/id="VSP_003814"
VAR_SEQ 416..469
/note="Missing (in isoform 2)"
/evidence="ECO:0000269|PubMed:29428966,
ECO:0000303|PubMed:14702039"
/id="VSP_003815"
VARIANT 17
/note="W -> R (in BVVLS1; loss of riboflavin transport; no
effect on localization to cell membrane; does not affect
protein abundance; dbSNP:rs797045190)"
/evidence="ECO:0000269|PubMed:21110228,
ECO:0000269|PubMed:22273710"
/id="VAR_077422"
VARIANT 21
/note="N -> S (in BVVLS1; loss of localization to cell
membrane; loss of riboflavin transport; dbSNP:rs199588390)"
/evidence="ECO:0000269|PubMed:22718020,
ECO:0000269|PubMed:27702554"
/id="VAR_077423"
VARIANT 28
/note="P -> T (in BVVLS1; loss of localization to cell
membrane; loss of riboflavin transport; does not affect
protein abundance; dbSNP:rs267606688)"
/evidence="ECO:0000269|PubMed:20920669,
ECO:0000269|PubMed:22273710"
/id="VAR_077424"
VARIANT 36
/note="E -> K (in BVVLS1; loss of localization to cell
membrane; loss of riboflavin transport; does not affect
protein abundance; dbSNP:rs267606686)"
/evidence="ECO:0000269|PubMed:20206331,
ECO:0000269|PubMed:22273710"
/id="VAR_063694"
VARIANT 58
/note="V -> D (in BVVLS1; dbSNP:rs797045192)"
/evidence="ECO:0000269|PubMed:22824638"
/id="VAR_077425"
VARIANT 71
/note="E -> K (in BVVLS1; loss of localization to cell
membrane; loss of riboflavin transport; does not affect
protein abundance; dbSNP:rs267606683)"
/evidence="ECO:0000269|PubMed:20920669,
ECO:0000269|PubMed:22273710"
/id="VAR_077426"
VARIANT 74
/note="I -> M (in dbSNP:rs35655964)"
/id="VAR_053565"
VARIANT 132
/note="R -> W (in BVVLS1; loss of localization to cell
membrane; loss of riboflavin transport; does not affect
protein abundance; dbSNP:rs267606684)"
/evidence="ECO:0000269|PubMed:20206331,
ECO:0000269|PubMed:22273710"
/id="VAR_063695"
VARIANT 174
/note="D -> G (in dbSNP:rs6054614)"
/id="VAR_053566"
VARIANT 220
/note="P -> H (in BVVLS1; unknown pathological
significance; dbSNP:rs797045194)"
/evidence="ECO:0000269|PubMed:22718020"
/id="VAR_077427"
VARIANT 224
/note="F -> L (in BVVLS1; dbSNP:rs267606685)"
/evidence="ECO:0000269|PubMed:20206331"
/id="VAR_063696"
VARIANT 266
/note="R -> W (in BVVLS1; unknown pathological
significance; dbSNP:rs370499474)"
/evidence="ECO:0000269|PubMed:22824638"
/id="VAR_077428"
VARIANT 267
/note="P -> L (in dbSNP:rs3746804)"
/evidence="ECO:0000269|PubMed:15489334"
/id="VAR_053567"
VARIANT 278
/note="T -> M (in dbSNP:rs3746803)"
/evidence="ECO:0000269|PubMed:15489334"
/id="VAR_053568"
VARIANT 303
/note="I -> V (in dbSNP:rs3746802)"
/evidence="ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:22824638"
/id="VAR_053569"
VARIANT 312
/note="A -> V (in BVVLS1; unknown pathological
significance; dbSNP:rs752218005)"
/evidence="ECO:0000269|PubMed:22718020"
/id="VAR_077429"
VARIANT 319
/note="P -> S (in BVVLS1; unknown pathological
significance; dbSNP:rs797045195)"
/evidence="ECO:0000269|PubMed:22824638"
/id="VAR_077430"
VARIANT 330
/note="G -> V (in BVVLS1; unknown pathological
significance; dbSNP:rs797045196)"
/evidence="ECO:0000269|PubMed:22633641"
/id="VAR_077431"
VARIANT 350
/note="L -> M (polymorphism; no effect on riboflavin
transport; no effect on localization to cell membrane;
dbSNP:rs76947760)"
/evidence="ECO:0000269|PubMed:20206331,
ECO:0000269|PubMed:22273710"
/id="VAR_063698"
VARIANT 375
/note="G -> D (in BVVLS1; unknown pathological
significance; dbSNP:rs1219868273)"
/evidence="ECO:0000269|PubMed:22718020"
/id="VAR_077432"
VARIANT 411
/note="S -> R (in dbSNP:rs910857)"
/id="VAR_063699"
VARIANT 413
/note="V -> A (in BVVLS1; dbSNP:rs267606687)"
/evidence="ECO:0000269|PubMed:20206331,
ECO:0000269|PubMed:22824638"
/id="VAR_063700"
VARIANT 457
/note="F -> L (in BVVLS1; dbSNP:rs779750163)"
/evidence="ECO:0000269|PubMed:20206331"
/id="VAR_063701"
MUTAGEN 326
/note="C->A: No effect on cell surface localization."
/evidence="ECO:0000269|PubMed:21512156"
MUTAGEN 386
/note="C->A: Abolishes cell surface localization."
/evidence="ECO:0000269|PubMed:21512156"
MUTAGEN 455
/note="R->A: No effect on cell surface localization."
/evidence="ECO:0000269|PubMed:21512156"
MUTAGEN 463
/note="C->A: Abolishes cell surface localization."
/evidence="ECO:0000269|PubMed:21512156"
MUTAGEN 467
/note="C->A: Abolishes cell surface localization."
/evidence="ECO:0000269|PubMed:21512156"
CONFLICT 11
/note="V -> D (in Ref. 3; BAF84395)"
/evidence="ECO:0000305"
CONFLICT 199
/note="L -> P (in Ref. 3; BAC11113)"
/evidence="ECO:0000305"
SEQUENCE 469 AA; 50805 MW; 239ED67348C93739 CRC64;
MAFLMHLLVC VFGMGSWVTI NGLWVELPLL VMELPEGWYL PSYLTVVIQL ANIGPLLVTL
LHHFRPSCLS EVPIIFTLLG VGTVTCIIFA FLWNMTSWVL DGHHSIAFLV LTFFLALVDC
TSSVTFLPFM SRLPTYYLTT FFVGEGLSGL LPALVALAQG SGLTTCVNVT EISDSVPSPV
PTRETDIAQG VPRALVSALP GMEAPLSHLE SRYLPAHFSP LVFFLLLSIM MACCLVAFFV
LQRQPRCWEA SVEDLLNDQV TLHSIRPREE NDLGPAGTVD SSQGQGYLEE KAAPCCPAHL
AFIYTLVAFV NALTNGMLPS VQTYSCLSYG PVAYHLAATL SIVANPLASL VSMFLPNRSL
LFLGVLSVLG TCFGGYNMAM AVMSPCPLLQ GHWGGEVLIV ASWVLFSGCL SYVKVMLGVV
LRDLSRSALL WCGAAVQLGS LLGALLMFPL VNVLRLFSSA DFCNLHCPA


Related products :

Catalog number Product name Quantity
E1198m Rat ELISA Kit FOR Solute carrier family 52, riboflavin transporter, member 3 96T
E1209b Pig ELISA Kit FOR Solute carrier family 52, riboflavin transporter, member 2 96T
E1253h Human ELISA Kit FOR Solute carrier family 52, riboflavin transporter, member 3 96T
EIAAB34414 C20orf54,Homo sapiens,hRFT2,Human,RFT2,Riboflavin transporter 2
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
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
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
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
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
EIAAB12307 Eaat4,Excitatory amino acid transporter 4,High-affinity neuronal glutamate transporter,Mouse,Mus musculus,Slc1a6,Sodium-dependent glutamate_aspartate transporter,Solute carrier family 1 member 6
EIAAB12308 Eaat4,Excitatory amino acid transporter 4,High-affinity neuronal glutamate transporter,Rat,Rattus norvegicus,Slc1a6,Sodium-dependent glutamate_aspartate transporter,Solute carrier family 1 member 6
EIAAB39168 Homo sapiens,Human,OATP4C1,OATP-H,OATP-M1,OATPX,Organic anion transporter M1,SLC21A20,SLCO4C1,Solute carrier family 21 member 20,Solute carrier organic anion transporter family member 4C1
EIAAB25211 Homo sapiens,Human,MCT 7,MCT 8,MCT8,Monocarboxylate transporter 7,Monocarboxylate transporter 8,SLC16A2,Solute carrier family 16 member 2,X-linked PEST-containing transporter,XPCT
EIAAB37153 Rat,Rattus norvegicus,Sit1,Slc6a20,Sodium- and chloride-dependent transporter XTRP3,Sodium_imino-acid transporter 1,Solute carrier family 6 member 20,Transporter rB21A,Xtrp3
EIAAB12297 EAAT2,Excitatory amino acid transporter 2,GLT1,Glutamate_aspartate transporter II,Homo sapiens,Human,SLC1A2,Sodium-dependent glutamate_aspartate transporter 2,Solute carrier family 1 member 2
EIAAB39170 Mouse,Mus musculus,Oatp4c1,Oatp-R,Slc21a20,Slco4c1,Solute carrier family 21 member 20,Solute carrier organic anion transporter family member 4C1
EIAAB39169 Oatp4c1,Rat,Rattus norvegicus,Slc21a20,Slco4c1,Solute carrier family 21 member 20,Solute carrier organic anion transporter family member 4C1
EIAAB36752 Mouse,Mus musculus,Octn3,Organic cation_carnitine transporter 3,Slc22a21,Slc22a9,Solute carrier family 22 member 21,Solute carrier family 22 member 9
EIAAB39160 Mouse,Mus musculus,Oatp2b1,Slc21a9,Slco2b1,Solute carrier family 21 member 9,Solute carrier organic anion transporter family member 2B1
EIAAB37152 Homo sapiens,Human,SIT1,SLC6A20,Sodium- and chloride-dependent transporter XTRP3,Sodium_imino-acid transporter 1,Solute carrier family 6 member 20,Transporter rB21A homolog,XT3,XTRP3
Pathways :
WP2347: vitamin B5 (pantothenate) and CoA biosynthesis Pathway
WP1455: Serotonin Transporter Activity
WP2344: vitamin B6 (pyridoxine, pyridoxal, pyridoxamine) biosynthesis and salvage pathway
WP2349: vitamin B3 (niacin), NAD and NADP biosynthesis pathway
WP1689: Porphyrin and chlorophyll metabolism
WP2339: vitamin B2 (riboflavin) biosynthesis and conversion to FMN and FAD pathway
WP1493: Carbon assimilation C4 pathway
WP1680: Oxidative phosphorylation
WP1713: Two-component system
WP2345: vitamin B7 (biotin) biosynthesis pathway
WP381: Riboflavin, FMN, and FAD Biosynthesis
WP1616: ABC transporters
WP1696: Riboflavin metabolism
WP1502: Mitochondrial biogenesis
WP1780: ABC-family proteins mediated transport
WP1909: Signal regulatory protein (SIRP) family interactions
WP1834: Interactions of the immunoglobulin superfamily (IgSF) member proteins
WP2199: Seed Development
WP1485: Interactions between CFTR and other ion channels
WP1799: Costimulation by the CD28 family
WP211: BMP signaling pathway

Related Genes :
[SLC52A3 C20orf54 RFT2 RFVT3] Solute carrier family 52, riboflavin transporter, member 3 (Riboflavin transporter 2) (hRFT2)
[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)
[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)
[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)
[SLC2A1 GLUT1] Solute carrier family 2, facilitated glucose transporter member 1 (Glucose transporter type 1, erythrocyte/brain) (GLUT-1) (HepG2 glucose transporter)
[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)
[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)
[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)
[SLC6A18 XTRP2] Inactive sodium-dependent neutral amino acid transporter B(0)AT3 (Sodium- and chloride-dependent transporter XTRP2) (Solute carrier family 6 member 18) (System B(0) neutral amino acid transporter AT3)
[SLC35B2 PAPST1 PSEC0149] Adenosine 3'-phospho 5'-phosphosulfate transporter 1 (PAPS transporter 1) (Putative MAPK-activating protein PM15) (Putative NF-kappa-B-activating protein 48) (Solute carrier family 35 member B2)
[SLC40A1 FPN1 IREG1 SLC11A3 MSTP079] Solute carrier family 40 member 1 (Ferroportin-1) (Iron-regulated transporter 1)
[rft-1 Y47D7A.16] Riboflavin transporter rft-1 (Solute carrier family 52, riboflavin transporter rft-1)
[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)
[SLC2A9 GLUT9] Solute carrier family 2, facilitated glucose transporter member 9 (Glucose transporter type 9) (GLUT-9) (Urate transporter)
[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)
[Slc2a5 Glut5] Solute carrier family 2, facilitated glucose transporter member 5 (Fructose transporter) (Glucose transporter type 5, small intestine) (GLUT-5)
[SLC2A6 GLUT6] Solute carrier family 2, facilitated glucose transporter member 6 (Glucose transporter type 6) (GLUT-6)
[SLC2A11 GLUT11] Solute carrier family 2, facilitated glucose transporter member 11 (Glucose transporter type 11) (GLUT-11)
[Slc2a9 Glut9] Solute carrier family 2, facilitated glucose transporter member 9 (Glucose transporter type 9) (GLUT-9) (Urate transporter)
[Slc2a1 Glut1] Solute carrier family 2, facilitated glucose transporter member 1 (Glucose transporter type 1, erythrocyte/brain) (GLUT-1) (GT1)
[SLC16A12 MCT12] Monocarboxylate transporter 12 (MCT 12) (Creatine transporter 2) (CRT2) (Solute carrier family 16 member 12)
[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)
[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)
[SLC19A3] Thiamine transporter 2 (ThTr-2) (ThTr2) (Solute carrier family 19 member 3)
[SLC22A5 OCTN2] Solute carrier family 22 member 5 (High-affinity sodium-dependent carnitine cotransporter) (Organic cation/carnitine transporter 2)
[Slc15a2 Pept2] Solute carrier family 15 member 2 (Kidney H(+)/peptide cotransporter) (Oligopeptide transporter, kidney isoform) (Peptide transporter 2)
[Slc40a1 Fpn1 Ireg1 Slc11a3 Slc39a1] Solute carrier family 40 member 1 (Ferroportin-1) (Iron-regulated transporter 1) (Metal transporter protein 1) (MTP1)
[SLC25A23 APC2 MCSC2 SCAMC3] Calcium-binding mitochondrial carrier protein SCaMC-3 (Mitochondrial ATP-Mg/Pi carrier protein 2) (Mitochondrial Ca(2+)-dependent solute carrier protein 2) (Small calcium-binding mitochondrial carrier protein 3) (Solute carrier family 25 member 23)

Bibliography :