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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC52A1
solute carrier family 52 member 1
Chromosome 17 · 17p13.2
NCBI Gene: 55065Ensembl: ENSG00000132517.16HGNC: HGNC:30225UniProt: Q9NWF4
24PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingriboflavin transmembrane transporter activityriboflavin transportplasma membranematernal riboflavin deficiencyariboflavinosisDecreased circulating vitamin B2 concentrationhepatocellular carcinoma
✦AI Summary

SLC52A1 encodes riboflavin transporter 1 (RFVT1), a plasma membrane protein that mediates vitamin B2 (riboflavin) uptake into cells, particularly in placenta and intestine 1. The gene's transcription is regulated by the Sp-1 transcription factor binding to a GC-rich core promoter 1. RFVT1 exhibits cooperative kinetics for riboflavin transport with a K0.5 of 0.86 μM and is inhibited by riboflavin analogs FMN and lumiflavin 2. Beyond basic transport function, SLC52A1 plays a critical cellular homeostasis role. It is a p53 target gene that suppresses cellular senescence through riboflavin uptake-dependent activation of mitochondrial complex II and the electron transport chain 3. This senescence suppression occurs via FAD-dependent demethylation activity of LSD1, which suppresses pro-senescence genes 4. SLC52A1 mutations cause riboflavin transporter deficiency, an autosomal dominant metabolic disorder with heterogeneous presentations ranging from neonatal multiple acyl-CoA dehydrogenase deficiency-like phenotypes to adult-onset seizures and mild hyperammonemia 5. Intronic variants can cause exon skipping and transient MADD 6. Additionally, SLC52A1 variants are associated with increased risk of early multiple-organ failure in acute pancreatitis 7. The gene represents a key hub integrating riboflavin metabolism with both mitochondrial function and senescence regulation 8.

Sources cited
1
SLC52A1 encodes RFVT1, a plasma membrane riboflavin transporter; Sp-1 transcription factor regulates its core promoter
PMID: 25284511
2
RFVT1 exhibits cooperative kinetics with K0.5 of 0.86 μM for riboflavin transport; inhibited by FMN and lumiflavin
PMID: 39914677
3
SLC52A1 is a p53 target gene that suppresses senescence through riboflavin-dependent mitochondrial complex II activation
PMID: 34524871
4
SLC52A1 suppresses senescence via FAD-dependent LSD1 demethylation of histone H3 and p53
PMID: 39988719
5
SLC52A1 mutations cause riboflavin transporter deficiency with variable presentations from neonatal MADD-like disease to adult seizures
PMID: 37510312
6
Intronic SLC52A1 variants cause exon skipping and transient MADD
PMID: 29122468
7
SLC52A1 variants are genetic risk factors for early multiple-organ failure in acute pancreatitis
PMID: 33427755
8
SLC52A1 mutations are among eight genes causing MADD and FAD metabolism-related deficiencies
PMID: 33279678
Disease Associationsⓘ21
maternal riboflavin deficiencyOpen Targets
0.43Moderate
ariboflavinosisOpen Targets
0.42Moderate
Decreased circulating vitamin B2 concentrationOpen Targets
0.42Moderate
hepatocellular carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
lung cancerOpen Targets
0.10Weak
colitisOpen Targets
0.10Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.09Suggestive
asthmaOpen Targets
0.09Suggestive
keratoconusOpen Targets
0.09Suggestive
ovarian cancerOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
renal cell carcinomaOpen Targets
0.08Suggestive
obesityOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.08Suggestive
Riboflavin deficiencyUniProt
Pathogenic Variants1
NM_017986.4(SLC52A1):c.3G>A (p.Met1Ile)Pathogenic
not provided
★☆☆☆2021→ Residue 1
View on ClinVar ↗
Related Genes
SLC52A2Shared pathway100%SLC52A3Shared pathway67%FLAD1Protein interaction66%SLC22A14Shared pathway50%RTBDNShared pathway50%RFKShared pathway33%
Tissue Expression6 tissues
Lung
100%
Liver
75%
Ovary
68%
Heart
25%
Brain
18%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SLC52A1SLC52A2SLC52A3FLAD1SLC22A14RTBDNRFK
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NWF4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.54–1.12]
RankingsWhere SLC52A1 stands among ~20K protein-coding genes
  • #13,308of 20,598
    Most Researched24
  • #5,335of 5,498
    Most Pathogenic Variants1
  • #11,562of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedSLC52A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification and characterization of 5'-flanking region of the human riboflavin transporter 1 gene (SLC52A1).
PMID: 25284511
Gene · 2014
1.00
2
Production of the recombinant human riboflavin transporters SLC52A1, 3 and functional assay in proteoliposomes.
PMID: 39914677
Arch Biochem Biophys · 2025
0.90
3
Riboflavin 1 Transporter Deficiency: Novel
PMID: 37510312
Genes (Basel) · 2023
0.80
4
Lysine-specific demethylase 1 (LSD1) suppresses cellular senescence by riboflavin uptake-dependent demethylation activity.
PMID: 39988719
Sci Rep · 2025
0.70
5
Riboflavin transporter SLC52A1, a target of p53, suppresses cellular senescence by activating mitochondrial complex II.
PMID: 34524871
Mol Biol Cell · 2021
0.60