solute carrier family 52 member 3; riboflavin transporter 2; hRFT2 (SLC52A3, C20orf54, RFT2)

Function

• riboflavin transporter
  • riboflavin transport is Na+- independent but moderately pH-sensitive

Inhibition:

• activity is strongly inhibited by riboflavin analogs
  • lumiflavin
  • flavin mononucleotide (FMN)
  • flavin adenine dinucleotide (FAD)
  • amiloride (to a lesser extent)

Kinetic parameters:

• KM=0.98 uM for riboflavin

Structure

belongs to the riboflavin transporter family

Compartment

cell membrane; multi-pass membrane protein

Alternative splicing

named isoforms=2

Expression

• expressed in testis
• highly expressed in small intestine & prostate

Pathology

• defects in SLC52A3 are the cause of
  • Brown-Vialetto-Van Laere syndrome type 1
  • Fazio-londe disease

Notes

• uncertain whether Met-1 or Met-5 is the initiator

More general terms

• solute carrier family 52 (SLC52, SLC52A)
• glycoprotein
• transmembrane 12 protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=113278
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:113278
• OMIM: https://mirror.omim.org/entry/211500
• OMIM: https://mirror.omim.org/entry/211530
• OMIM: https://mirror.omim.org/entry/613350
• UniProt: http://www.uniprot.org/uniprot/Q9NQ40.html