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

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

Stable Identifier

R-HSA-3165230

Type

Reaction [transition]

Species

Homo sapiens

Compartment

cytosol, extracellular region, plasma membrane

Synonyms

riboflavin(in) = riboflavin(out)

ReviewStatus

5/5

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

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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
18632736	Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1 Masuda, S, Inui, K, Katsura, T, Yonezawa, A	Am. J. Physiol., Cell Physiol.	2008
24264046	Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin absorption Matsubara, K, Yoshimatsu, H, Sugano, K, Yonezawa, A, Nakagawa, S, Omura, T, Yao, Y	Am. J. Physiol. Gastrointest. Liver Physiol.	2014
20463145	Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain Masuda, S, Inui, K, Katsura, T, Yoshimatsu, H, Yonezawa, A, Yao, Y	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 Duran, M, Visser, G, Ijlst, L, Wanders, RJA, van der Pol, WL, Knoester, H, Abeling, NG, Bosch, AM, Wijburg, FA, Stroomer, AE, 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 Sheridan, E, Houlden, H, Childs, AM, Crow, YJ, Green, P, Josifova, DJ, Lin, JP, Riphagen, S, Wiseman, M, Edwards, S, Raymond, FL	Am. J. Hum. Genet.	2010