SLC52A1,2,3 transport RIB from extracellular region to cytosol

Stable Identifier
R-HSA-3165230
Type
Reaction [transition]
Species
Homo sapiens
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The water-soluble vitamin riboflavin (RIB, vitamin B2) is essential for normal cellular functions. Three human riboflavin transporters mediate the transport of RIB into cells and play an important role in RIB homeostasis. The transporters are assigned to a new sub-family of the SLC superfamily; SLC52A1, SLC52A2 and SLC52A3 (aka RFVT1, RFVT2 and RFVT3 respectively). Solute carrier family 52, riboflavin transporter, member 1 (SLC52A1, RFVT1) is widely expressed with highest expression in the testis, placenta and small intestine (Yonezawa et al. 2008). Solute carrier family 52, riboflavin transporter, member 2 (SLC52A2, RFVT2) is highly expressed in brain, foetal brain and salivary gland (Yao et al. 2010). Solute carrier family 52, riboflavin transporter, member 3 (SLC52A3, RFVT3) transports riboflavin (RIB) from the lumen into small intestine epithelial cells (Yoshimatsu et al. 2014). Activity is inhibited by riboflavin analogues such as flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) (Yao et al. 2010). Defects in SLC52A3 cause Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1; MIM:211530). BVVLS1 is a rare autosomal recessive neurologic disorder characterised by sensorineural hearing loss and a variety of cranial nerve palsies (Green et al. 2010). Defects in SLC52A3 also cause Fazio-Londe disease (FALOND; MIM:211500), a rare neurological disease characterised by progressive weakness of the muscles innervated by cranial nerves located at the lower brain stem (Bosch et al. 2011).

Literature References
PubMed ID Title Journal Year
24264046 Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin absorption

Yoshimatsu, H, Yonezawa, A, Yao, Y, Sugano, K, Nakagawa, S, Omura, T, Matsubara, K

Am. J. Physiol. Gastrointest. Liver Physiol. 2014
18632736 Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1

Yonezawa, A, Masuda, S, Katsura, T, Inui, K

Am. J. Physiol., Cell Physiol. 2008
20463145 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. 2010
21110228 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

Bosch, AM, Abeling, NG, Ijlst, L, Knoester, H, van der Pol, WL, Stroomer, AE, Wanders, RJ, Visser, G, Wijburg, FA, Duran, M, Waterham, HR

J. Inherit. Metab. Dis. 2011
20206331 Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54

Green, P, Wiseman, M, Crow, YJ, Houlden, H, Riphagen, S, Lin, JP, Raymond, FL, Childs, AM, Sheridan, E, Edwards, S, Josifova, DJ

Am. J. Hum. Genet. 2010
Participants
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Catalyst Activity
Title
riboflavin transmembrane transporter activity of SLC52A1,2,3 [plasma membrane]
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