SLC52A1
geneOn this page
Also known as FLJ10060GPCR42PAR2hRFT1RFVT1
Summary
SLC52A1 (solute carrier family 52 member 1, HGNC:30225) is a protein-coding gene on chromosome 17p13.2, encoding Solute carrier family 52, riboflavin transporter, member 1 (Q9NWF4). Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism.
Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox reagents. This gene encodes a member of the riboflavin (vitamin B2) transporter family. Haploinsufficiency of this protein can cause maternal riboflavin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.
Source: NCBI Gene 55065 — RefSeq curated summary.
At a glance
- Gene–disease (curated): maternal riboflavin deficiency (Moderate, ClinGen) — +1 more curated relationship
- GWAS associations: 3
- Clinical variants (ClinVar): 290 total — 3 pathogenic
- Phenotypes (HPO): 11
- MANE Select transcript:
NM_017986
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30225 |
| Approved symbol | SLC52A1 |
| Name | solute carrier family 52 member 1 |
| Location | 17p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10060, GPCR42, PAR2, hRFT1, RFVT1 |
| Ensembl gene | ENSG00000132517 |
| Ensembl biotype | protein_coding |
| OMIM | 607883 |
| Entrez | 55065 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 2 retained_intron
ENST00000254853, ENST00000424747, ENST00000512825, ENST00000573674, ENST00000575919, ENST00000894338, ENST00000923984, ENST00000961589, ENST00000961590, ENST00000961591
RefSeq mRNA: 2 — MANE Select: NM_017986
NM_001104577, NM_017986
CCDS: CCDS11066
Canonical transcript exons
ENST00000254853 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000675324 | 5033479 | 5034358 |
| ENSE00001309445 | 5034477 | 5034713 |
| ENSE00001853979 | 5034861 | 5035426 |
| ENSE00003502467 | 5032602 | 5033169 |
| ENSE00003637764 | 5033261 | 5033384 |
Expression profiles
Bgee: expression breadth ubiquitous, 101 present calls, max score 84.19.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1868 / max 32.0358, expressed in 62 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 164014 | 0.1700 | 51 |
| 164015 | 0.0168 | 6 |
Top tissues by expression
237 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| duodenum | UBERON:0002114 | 84.19 | gold quality |
| placenta | UBERON:0001987 | 82.47 | gold quality |
| jejunal mucosa | UBERON:0000399 | 78.65 | gold quality |
| small intestine | UBERON:0002108 | 75.43 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 74.95 | gold quality |
| ileal mucosa | UBERON:0000331 | 74.49 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 74.45 | silver quality |
| skin of leg | UBERON:0001511 | 72.74 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 69.68 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 69.51 | gold quality |
| zone of skin | UBERON:0000014 | 69.40 | gold quality |
| buccal mucosa cell | CL:0002336 | 69.26 | gold quality |
| skin of abdomen | UBERON:0001416 | 69.15 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 68.26 | gold quality |
| right uterine tube | UBERON:0001302 | 68.15 | gold quality |
| bronchial epithelial cell | CL:0002328 | 67.64 | gold quality |
| bronchus | UBERON:0002185 | 67.27 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 66.89 | gold quality |
| jejunum | UBERON:0002115 | 64.78 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 63.44 | gold quality |
| cartilage tissue | UBERON:0002418 | 63.18 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 62.75 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 61.85 | gold quality |
| vena cava | UBERON:0004087 | 61.78 | gold quality |
| upper leg skin | UBERON:0004262 | 61.74 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 61.09 | gold quality |
| decidua | UBERON:0002450 | 60.65 | silver quality |
| esophagus mucosa | UBERON:0002469 | 60.14 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 59.52 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 59.29 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.50 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting SLC52A1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-29B-2-5P | 99.67 | 68.98 | 1726 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-4528 | 99.18 | 69.77 | 1936 |
| HSA-MIR-608 | 98.93 | 67.83 | 2013 |
| HSA-MIR-7114-5P | 98.51 | 67.87 | 1349 |
| HSA-MIR-12116 | 97.94 | 68.91 | 595 |
| HSA-MIR-122-5P | 97.23 | 64.92 | 1024 |
Literature-anchored findings (GeneRIF, showing 12)
- Identification/characterization riboflavin trasporter (RFT1) as a novel riboflavin transporter. (PMID:18632736)
- We demonstrated that TFAP-2gamma is one of the transcription factors involved in the PAR-2 expression in human villous trophoblast cells. (PMID:22702469)
- Intestinal riboflavin uptake process undergoes differentiation-dependent upregulation and suggest that this is mediated (at least in part) via transcriptional mechanisms of SLC52A1 and SLC52A3. (PMID:23413253)
- summary of recent findings on the cloning, nomenclature, functional characterization and genetic diseases of RFVT1/SLC52A1, RFVT2/SLC52A2 and RFVT3/SLC52A3 [review] (PMID:23506902)
- data suggest that MMND is a distinct clinical subgroup of childhood onset MND patients where the known genetic defects are so far negative. (PMID:24139842)
- results are the first to reveal the identity of the minimal SLC52A1 promoter and to establish an important role for Sp-1 in its activity (PMID:25284511)
- We here report a case of transient MADD, caused by a heterozygous intronic variation, c.1134+11G>A, in the SLC52A1 gene encoding RFVT1. This variation creates a binding site for the splice inhibitory hnRNP A1 protein and causes exon 4 skipping. Riboflavin deficiency and maternal malnutrition during pregnancy might have been the determining factor in the outcome of this case. (PMID:29122468)
- In HT-29 cells, the RFVT1 protein level was drastically lower. In tumor tissues of patients with CRC, RFVT1 content was reduced at both protein and mRNA levels compared to normal mucosa. (PMID:29715086)
- In the in vitro model, exposing Caco-2 cells to tumor necrosis factor-alpha (TNF-alpha) led to a significant inhibition in RF uptake, an effect that was abrogated upon knocking down TNF receptor 1 (TNFR1). The inhibition in RF uptake was associated with a significant reduction in the expression of hRFVT-3 and -1 protein and mRNA levels, as well as in the activity of the SLC52A3 and SLC52A1 promoters (PMID:30156861)
- Whole-exome Sequencing Identifies SLC52A1 and ZNF106 Variants as Novel Genetic Risk Factors for (Early) Multiple-organ Failure in Acute Pancreatitis. (PMID:33427755)
- Riboflavin transporter SLC52A1, a target of p53, suppresses cellular senescence by activating mitochondrial complex II. (PMID:34524871)
- Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum. (PMID:37510312)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc52a2 | ENSDARG00000102035 |
| mus_musculus | Slc52a2 | ENSMUSG00000022560 |
| rattus_norvegicus | Slc52a2 | ENSRNOG00000032561 |
| drosophila_melanogaster | Rift | FBGN0039882 |
| caenorhabditis_elegans | WBGENE00021626 | |
| caenorhabditis_elegans | WBGENE00044637 |
Paralogs (2): SLC52A3 (ENSG00000101276), SLC52A2 (ENSG00000185803)
Protein
Protein identifiers
Solute carrier family 52, riboflavin transporter, member 1 — Q9NWF4 (reviewed: Q9NWF4)
Alternative names: Porcine endogenous retrovirus A receptor 2, Protein GPR172B, Riboflavin transporter 1
All UniProt accessions (2): Q9NWF4, F5H5Y1
UniProt curated annotations — full annotation on UniProt →
Function. Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism. Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption. (Microbial infection) May function as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).
Subcellular location. Cell membrane.
Tissue specificity. Widely expressed. Highly expressed in the testis, placenta and small intestine. Expressed at lower level in other tissues.
Disease relevance. Riboflavin deficiency (RBFVD) [MIM:615026] A disorder caused by a primary defect in riboflavin metabolism, or by dietary riboflavin deficiency. Riboflavin deficiency during pregnancy results in hypoglycemia, metabolic acidosis, dicarboxylic aciduria and elevated plasma acylcarnitine levels in the newborn. Treatment with oral riboflavin results in complete resolution of the clinical and biochemical findings. The disease is caused by variants affecting the gene represented in this entry.
Activity regulation. The activity is strongly inhibited by riboflavin analogs, such as lumiflavin. Weakly inhibited by flavin adenine dinucleotide (FAD).
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the riboflavin transporter family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NWF4-1 | 1 | yes |
| Q9NWF4-2 | 2, RFT1sv |
RefSeq proteins (2): NP_001098047, NP_060456* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009357 | Riboflavin_transptr | Family |
Pfam: PF06237
Catalyzed reactions (Rhea), 1 shown:
- riboflavin(in) = riboflavin(out) (RHEA:35015)
UniProt features (21 total): transmembrane region 11, sequence variant 4, splice variant 2, chain 1, region of interest 1, compositionally biased region 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NWF4-F1 | 84.13 | 0.61 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (1): 178
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-196843 | Vitamin B2 (riboflavin) metabolism |
| R-HSA-1430728 | Metabolism |
| R-HSA-196849 | Metabolism of water-soluble vitamins and cofactors |
| R-HSA-196854 | Metabolism of vitamins and cofactors |
MSigDB gene sets: 90 (showing top):
GOBP_ORGANIC_ANION_TRANSPORT, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERACTION_WITH_HOST, GOBP_VIRAL_LIFE_CYCLE, GOBP_VITAMIN_TRANSPORT, MODULE_48, MODULE_95, ACACTCC_MIR122A, REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS, GOMF_TRANSPORTER_ACTIVITY, MARTENS_TRETINOIN_RESPONSE_UP, MODULE_163, GOMF_VITAMIN_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_EXOGENOUS_PROTEIN_BINDING, REACTOME_VITAMIN_B2_RIBOFLAVIN_METABOLISM, REACTOME_METABOLISM_OF_WATER_SOLUBLE_VITAMINS_AND_COFACTORS
GO Biological Process (3): riboflavin metabolic process (GO:0006771), riboflavin transport (GO:0032218), symbiont entry into host cell (GO:0046718)
GO Molecular Function (3): virus receptor activity (GO:0001618), riboflavin transmembrane transporter activity (GO:0032217), protein binding (GO:0005515)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Metabolism of water-soluble vitamins and cofactors | 1 |
| Metabolism of vitamins and cofactors | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| flavin-containing compound metabolic process | 1 |
| vitamin transport | 1 |
| nitrogen compound transport | 1 |
| viral life cycle | 1 |
| symbiont entry into host | 1 |
| symbiont entry into host cell | 1 |
| exogenous protein binding | 1 |
| riboflavin transport | 1 |
| vitamin transmembrane transporter activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
704 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC52A1 | FLAD1 | Q8NFF5 | 755 |
| SLC52A1 | SLC25A32 | Q9H2D1 | 637 |
| SLC52A1 | ETFDH | Q16134 | 622 |
| SLC52A1 | RFK | Q969G6 | 557 |
| SLC52A1 | ETFB | P38117 | 516 |
| SLC52A1 | ETFA | P13804 | 474 |
| SLC52A1 | SLC23A1 | Q9UHI7 | 460 |
| SLC52A1 | SLC20A2 | Q08357 | 433 |
| SLC52A1 | SLC6A20 | Q9NP91 | 417 |
| SLC52A1 | SLC44A4 | Q53GD3 | 407 |
| SLC52A1 | TRIM49B | A6NDI0 | 358 |
| SLC52A1 | SLC19A2 | O60779 | 339 |
| SLC52A1 | RTBDN | Q9BSG5 | 336 |
| SLC52A1 | SLC35H1 | Q9NQQ7 | 327 |
| SLC52A1 | ACE | P12821 | 322 |
IntAct
29 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC52A1 | SHISAL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SGCB | SLC52A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM237 | SLC52A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GJA8 | SLC52A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CREB3L1 | SLC52A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP6 | SLC52A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IFNGR2 | SLC52A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC7A1 | SLC52A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM179B | SLC52A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SHISAL1 | SLC52A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC52A1 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| SLC52A1 | SGCB | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC52A1 | TMEM237 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC52A1 | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC52A1 | AQP6 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC52A1 | IFNGR2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC52A1 | GJA8 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC52A1 | SLC7A1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC52A1 | TMEM179B | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (18): SLC52A1 (Two-hybrid), SLC52A1 (Two-hybrid), KIAA1644 (Two-hybrid), SLC7A1 (Two-hybrid), TMEM237 (Two-hybrid), CREB3L1 (Two-hybrid), IFNGR2 (Two-hybrid), SGCB (Two-hybrid), TMEM179B (Two-hybrid), CANX (Affinity Capture-MS), CLGN (Affinity Capture-MS), COL14A1 (Affinity Capture-MS), FRMD5 (Affinity Capture-MS), HADHB (Affinity Capture-MS), NME2P1 (Affinity Capture-MS)
ESM2 similar proteins: A6NGC4, A6NKX4, A6NM10, F1NZP5, O96011, P0C242, P27544, P27545, Q0VCY6, Q2TBI8, Q3SYU3, Q4V8E5, Q5F2F2, Q5JZQ7, Q5RFI0, Q5U2T1, Q5U419, Q6AYM9, Q6GQT6, Q6PIS1, Q6TCG5, Q6UXD7, Q6UXT9, Q71RH2, Q7TNV1, Q7Z403, Q80ZE4, Q863Y8, Q86WI3, Q8BMT9, Q8CHK3, Q8IU68, Q8IXF9, Q8N9H8, Q8TBR7, Q8VC26, Q8WUG5, Q96N66, Q99640, Q99JT6
Diamond homologs: B0S5Y3, B5MEV3, B5X4H8, C1BKZ7, D2HSA6, G4SDH4, Q3LFN0, Q4FZU9, Q5E9R1, Q6GMG6, Q863Y7, Q863Y8, Q9D6X5, Q9D8F3, Q9HAB3, Q9NQ40, Q9NWF4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
290 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 0 |
| Uncertain significance | 176 |
| Likely benign | 81 |
| Benign | 17 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1319723 | NM_017986.4(SLC52A1):c.3G>A (p.Met1Ile) | Pathogenic |
| 210044 | Single allele | Pathogenic |
| 39608 | NG_033117.2:g.(12554_12700)_(13936_14029)del | Pathogenic |
SpliceAI
984 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:5034221:C:CT | donor_gain | 0.9900 |
| 17:5034222:T:TT | donor_gain | 0.9900 |
| 17:5034475:AC:A | donor_gain | 0.9900 |
| 17:5034476:CC:C | donor_gain | 0.9900 |
| 17:5034476:CCCT:C | donor_gain | 0.9900 |
| 17:5034495:C:CT | donor_gain | 0.9900 |
| 17:5034660:C:A | donor_gain | 0.9900 |
| 17:5033269:C:CT | donor_gain | 0.9800 |
| 17:5034230:G:C | donor_gain | 0.9800 |
| 17:5034267:G:A | donor_gain | 0.9800 |
| 17:5034296:C:CT | donor_gain | 0.9800 |
| 17:5034356:AACCT:A | acceptor_loss | 0.9800 |
| 17:5034357:ACC:A | acceptor_loss | 0.9800 |
| 17:5034358:CCT:C | acceptor_loss | 0.9800 |
| 17:5034359:CT:C | acceptor_loss | 0.9800 |
| 17:5034360:T:C | acceptor_loss | 0.9800 |
| 17:5034496:C:CT | donor_gain | 0.9800 |
| 17:5034659:T:TA | donor_gain | 0.9800 |
| 17:5034464:C:A | donor_gain | 0.9700 |
| 17:5033474:TGCA:T | donor_loss | 0.9600 |
| 17:5033475:GCACC:G | donor_loss | 0.9600 |
| 17:5033476:CA:C | donor_loss | 0.9600 |
| 17:5033478:C:CT | donor_loss | 0.9600 |
| 17:5034297:C:CT | donor_gain | 0.9600 |
| 17:5034470:CACTC:C | donor_loss | 0.9600 |
| 17:5034472:CTCAC:C | donor_loss | 0.9600 |
| 17:5034473:T:TC | donor_loss | 0.9600 |
| 17:5034474:C:CC | donor_loss | 0.9600 |
| 17:5033166:GCACC:G | acceptor_loss | 0.9400 |
| 17:5033167:CACCT:C | acceptor_loss | 0.9400 |
AlphaMissense
2799 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:5033580:A:C | F303L | 0.965 |
| 17:5033580:A:T | F303L | 0.965 |
| 17:5033582:A:G | F303L | 0.965 |
| 17:5034027:A:C | S154R | 0.965 |
| 17:5034027:A:T | S154R | 0.965 |
| 17:5034029:T:G | S154R | 0.965 |
| 17:5033306:G:C | S363R | 0.964 |
| 17:5033306:G:T | S363R | 0.964 |
| 17:5033308:T:G | S363R | 0.964 |
| 17:5033856:G:C | F211L | 0.964 |
| 17:5033856:G:T | F211L | 0.964 |
| 17:5033858:A:G | F211L | 0.964 |
| 17:5033583:G:C | S302R | 0.963 |
| 17:5033583:G:T | S302R | 0.963 |
| 17:5033585:T:G | S302R | 0.963 |
| 17:5033901:G:C | F196L | 0.959 |
| 17:5033901:G:T | F196L | 0.959 |
| 17:5033903:A:G | F196L | 0.959 |
| 17:5034093:G:C | F132L | 0.958 |
| 17:5034093:G:T | F132L | 0.958 |
| 17:5034095:A:G | F132L | 0.958 |
| 17:5032996:A:C | F436L | 0.951 |
| 17:5032996:A:T | F436L | 0.951 |
| 17:5032998:A:G | F436L | 0.951 |
| 17:5034084:G:C | F135L | 0.950 |
| 17:5034084:G:T | F135L | 0.950 |
| 17:5034086:A:G | F135L | 0.950 |
| 17:5034354:C:A | W45C | 0.948 |
| 17:5034354:C:G | W45C | 0.948 |
| 17:5034508:C:A | E33D | 0.941 |
dbSNP variants (sampled 300 via entrez): RS1000102935 (17:5037524 C>A,G,T), RS1000118008 (17:5040772 A>G), RS1000172211 (17:5040509 C>CAAAT), RS1000302751 (17:5032880 G>A,C,T), RS1000518613 (17:5038519 A>G), RS1000690866 (17:5032559 G>A), RS1001330085 (17:5034227 T>A), RS1001490164 (17:5037931 T>G), RS1001760228 (17:5039691 C>G,T), RS1002265136 (17:5035429 C>G), RS1002333843 (17:5043752 T>A,C), RS1002669297 (17:5042558 A>C), RS1003167866 (17:5040825 T>G), RS1003266819 (17:5037020 A>G,T), RS1003699106 (17:5036655 G>A)
Disease associations
OMIM: gene MIM:607883 | disease phenotypes: MIM:615026
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| ariboflavinosis | Moderate | Autosomal dominant |
| maternal riboflavin deficiency | Supportive | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| maternal riboflavin deficiency | Moderate | AD |
Mondo (2): ariboflavinosis (MONDO:0004573), maternal riboflavin deficiency (MONDO:0014013)
Orphanet (1): Maternal riboflavin deficiency (Orphanet:411712)
HPO phenotypes
11 total (11 of 11 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001942 | Metabolic acidosis |
| HP:0001943 | Hypoglycemia |
| HP:0002033 | Poor suck |
| HP:0002045 | Hypothermia |
| HP:0003128 | Lactic acidosis |
| HP:0003215 | Dicarboxylic aciduria |
| HP:0045045 | Elevated circulating acylcarnitine concentration |
| HP:0100504 | Decreased circulating vitamin B2 concentration |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004744_24 | Lung adenocarcinoma | 5.000000e-06 |
| GCST90000047_220 | Age at first sexual intercourse | 5.000000e-08 |
| GCST90013442_27 | Keratoconus | 2.000000e-14 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC52 family of riboflavin transporters
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, affects cotreatment, decreases expression, increases abundance | 2 |
| Arsenic | increases abundance, affects methylation, affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | decreases methylation, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Aflatoxin B1 | increases expression | 2 |
| propionaldehyde | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Fulvestrant | increases methylation | 1 |
| Camptothecin | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Manganese | increases abundance, affects cotreatment, decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Zinc | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4W1 | LS180-SLC52A1-KO-c6 | Cancer cell line | Female |
| CVCL_D4W2 | LS180-SLC52A1-KO-c8 | Cancer cell line | Female |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05687474 | Not specified | COMPLETED | Baby Detect : Genomic Newborn Screening |
Related Atlas pages
- Associated diseases: maternal riboflavin deficiency, ariboflavinosis
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ariboflavinosis, keratoconus, maternal riboflavin deficiency