GO_REF:0000002
Gene Ontology annotation through association of InterPro records with GO terms
GO_REF:0000033
Annotation inferences using phylogenetic trees
GO_REF:0000044
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
GO_REF:0000120
Combined Automated Annotation using Multiple IEA Methods
PMID:20206331
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
PMID:20463145
Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.
PMID:21854757
Differential expression of human riboflavin transporters -1, -2, and -3 in polarized epithelia: a key role for hRFT-2 in intestinal riboflavin uptake.
PMID:22273710
Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).
PMID:24264046
Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin absorption.
PMID:27702554
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.
PMID:29428966
SLC52A3 expression is activated by NF-κB p65/Rel-B and serves as a prognostic biomarker in esophageal cancer.
PMID:30892938
Identification of transmembrane protein 237 as a novel interactor with the intestinal riboflavin transporter-3 (RFVT-3): role in functionality and cell biology.
PMID:32814053
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.
Reactome:R-HSA-196843
Vitamin B2 (riboflavin) metabolism
Reactome:R-HSA-3165230
SLC52A1,2,3 transport RIB from extracellular region to cytosol