SLC52A1

gene
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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

FieldValue
HGNC IDHGNC:30225
Approved symbolSLC52A1
Namesolute carrier family 52 member 1
Location17p13.2
Locus typegene with protein product
StatusApproved
AliasesFLJ10060, GPCR42, PAR2, hRFT1, RFVT1
Ensembl geneENSG00000132517
Ensembl biotypeprotein_coding
OMIM607883
Entrez55065

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

ExonStartEnd
ENSE0000067532450334795034358
ENSE0000130944550344775034713
ENSE0000185397950348615035426
ENSE0000350246750326025033169
ENSE0000363776450332615033384

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 IDTPM avgSamples expressed
1640140.170051
1640150.01686

Top tissues by expression

237 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
duodenumUBERON:000211484.19gold quality
placentaUBERON:000198782.47gold quality
jejunal mucosaUBERON:000039978.65gold quality
small intestineUBERON:000210875.43gold quality
small intestine Peyer’s patchUBERON:000345474.95gold quality
ileal mucosaUBERON:000033174.49silver quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047374.45silver quality
skin of legUBERON:000151172.74gold quality
olfactory segment of nasal mucosaUBERON:000538669.68gold quality
mucosa of transverse colonUBERON:000499169.51gold quality
zone of skinUBERON:000001469.40gold quality
buccal mucosa cellCL:000233669.26gold quality
skin of abdomenUBERON:000141669.15gold quality
epithelium of bronchusUBERON:000203168.26gold quality
right uterine tubeUBERON:000130268.15gold quality
bronchial epithelial cellCL:000232867.64gold quality
bronchusUBERON:000218567.27gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451166.89gold quality
jejunumUBERON:000211564.78gold quality
nasal cavity mucosaUBERON:000182663.44gold quality
cartilage tissueUBERON:000241863.18gold quality
nasal cavity epitheliumUBERON:000538462.75gold quality
mucosa of paranasal sinusUBERON:000503061.85gold quality
vena cavaUBERON:000408761.78gold quality
upper leg skinUBERON:000426261.74gold quality
lower esophagus mucosaUBERON:003583461.09gold quality
deciduaUBERON:000245060.65silver quality
esophagus mucosaUBERON:000246960.14gold quality
trabecular bone tissueUBERON:000248359.52gold quality
mucosa of sigmoid colonUBERON:000499359.29gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no3.50

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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-188-3P100.0068.761240
HSA-MIR-32-5P99.9875.211964
HSA-MIR-92A-3P99.9875.211960
HSA-MIR-92B-3P99.9875.251955
HSA-MIR-25-3P99.9874.601817
HSA-MIR-363-3P99.9874.721821
HSA-MIR-367-3P99.9874.831819
HSA-MIR-29B-2-5P99.6768.981726
HSA-MIR-7152-5P99.6069.332094
HSA-MIR-426999.5569.891373
HSA-MIR-318299.4068.152454
HSA-MIR-452899.1869.771936
HSA-MIR-60898.9367.832013
HSA-MIR-7114-5P98.5167.871349
HSA-MIR-1211697.9468.91595
HSA-MIR-122-5P97.2364.921024

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

OrganismSymbolGene ID
danio_rerioslc52a2ENSDARG00000102035
mus_musculusSlc52a2ENSMUSG00000022560
rattus_norvegicusSlc52a2ENSRNOG00000032561
drosophila_melanogasterRiftFBGN0039882
caenorhabditis_elegansWBGENE00021626
caenorhabditis_elegansWBGENE00044637

Paralogs (2): SLC52A3 (ENSG00000101276), SLC52A2 (ENSG00000185803)

Protein

Protein identifiers

Solute carrier family 52, riboflavin transporter, member 1Q9NWF4 (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 IDNamesCanonical?
Q9NWF4-11yes
Q9NWF4-22, RFT1sv

RefSeq proteins (2): NP_001098047, NP_060456* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR009357Riboflavin_transptrFamily

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)

ModelpLDDTFraction very-high
AF-Q9NWF4-F184.130.61

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

IDPathway
R-HSA-196843Vitamin B2 (riboflavin) metabolism
R-HSA-1430728Metabolism
R-HSA-196849Metabolism of water-soluble vitamins and cofactors
R-HSA-196854Metabolism 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:

CategoryPathways
Metabolism of water-soluble vitamins and cofactors1
Metabolism of vitamins and cofactors1
Metabolism1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
flavin-containing compound metabolic process1
vitamin transport1
nitrogen compound transport1
viral life cycle1
symbiont entry into host1
symbiont entry into host cell1
exogenous protein binding1
riboflavin transport1
vitamin transmembrane transporter activity1
binding1
membrane1
cell periphery1
cellular anatomical structure1

Protein interactions and networks

STRING

704 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SLC52A1FLAD1Q8NFF5755
SLC52A1SLC25A32Q9H2D1637
SLC52A1ETFDHQ16134622
SLC52A1RFKQ969G6557
SLC52A1ETFBP38117516
SLC52A1ETFAP13804474
SLC52A1SLC23A1Q9UHI7460
SLC52A1SLC20A2Q08357433
SLC52A1SLC6A20Q9NP91417
SLC52A1SLC44A4Q53GD3407
SLC52A1TRIM49BA6NDI0358
SLC52A1SLC19A2O60779339
SLC52A1RTBDNQ9BSG5336
SLC52A1SLC35H1Q9NQQ7327
SLC52A1ACEP12821322

IntAct

29 interactions, top by confidence:

ABTypeScore
SLC52A1SHISAL1psi-mi:“MI:0915”(physical association)0.560
SGCBSLC52A1psi-mi:“MI:0915”(physical association)0.560
TMEM237SLC52A1psi-mi:“MI:0915”(physical association)0.560
GJA8SLC52A1psi-mi:“MI:0915”(physical association)0.560
CREB3L1SLC52A1psi-mi:“MI:0915”(physical association)0.560
AQP6SLC52A1psi-mi:“MI:0915”(physical association)0.560
IFNGR2SLC52A1psi-mi:“MI:0915”(physical association)0.560
SLC7A1SLC52A1psi-mi:“MI:0915”(physical association)0.560
TMEM179BSLC52A1psi-mi:“MI:0915”(physical association)0.560
SHISAL1SLC52A1psi-mi:“MI:0915”(physical association)0.560
SLC52A1CLGNpsi-mi:“MI:0914”(association)0.350
SLC52A1SGCBpsi-mi:“MI:0915”(physical association)0.000
SLC52A1TMEM237psi-mi:“MI:0915”(physical association)0.000
SLC52A1CREB3L1psi-mi:“MI:0915”(physical association)0.000
SLC52A1AQP6psi-mi:“MI:0915”(physical association)0.000
SLC52A1IFNGR2psi-mi:“MI:0915”(physical association)0.000
SLC52A1GJA8psi-mi:“MI:0915”(physical association)0.000
SLC52A1SLC7A1psi-mi:“MI:0915”(physical association)0.000
SLC52A1TMEM179Bpsi-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):

ClassificationCount (floor)
Pathogenic3
Likely pathogenic0
Uncertain significance176
Likely benign81
Benign17

Top pathogenic / likely-pathogenic (3)

Variant IDHGVSClassification
1319723NM_017986.4(SLC52A1):c.3G>A (p.Met1Ile)Pathogenic
210044Single allelePathogenic
39608NG_033117.2:g.(12554_12700)_(13936_14029)delPathogenic

SpliceAI

984 predictions. Top by Δscore:

VariantEffectΔscore
17:5034221:C:CTdonor_gain0.9900
17:5034222:T:TTdonor_gain0.9900
17:5034475:AC:Adonor_gain0.9900
17:5034476:CC:Cdonor_gain0.9900
17:5034476:CCCT:Cdonor_gain0.9900
17:5034495:C:CTdonor_gain0.9900
17:5034660:C:Adonor_gain0.9900
17:5033269:C:CTdonor_gain0.9800
17:5034230:G:Cdonor_gain0.9800
17:5034267:G:Adonor_gain0.9800
17:5034296:C:CTdonor_gain0.9800
17:5034356:AACCT:Aacceptor_loss0.9800
17:5034357:ACC:Aacceptor_loss0.9800
17:5034358:CCT:Cacceptor_loss0.9800
17:5034359:CT:Cacceptor_loss0.9800
17:5034360:T:Cacceptor_loss0.9800
17:5034496:C:CTdonor_gain0.9800
17:5034659:T:TAdonor_gain0.9800
17:5034464:C:Adonor_gain0.9700
17:5033474:TGCA:Tdonor_loss0.9600
17:5033475:GCACC:Gdonor_loss0.9600
17:5033476:CA:Cdonor_loss0.9600
17:5033478:C:CTdonor_loss0.9600
17:5034297:C:CTdonor_gain0.9600
17:5034470:CACTC:Cdonor_loss0.9600
17:5034472:CTCAC:Cdonor_loss0.9600
17:5034473:T:TCdonor_loss0.9600
17:5034474:C:CCdonor_loss0.9600
17:5033166:GCACC:Gacceptor_loss0.9400
17:5033167:CACCT:Cacceptor_loss0.9400

AlphaMissense

2799 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:5033580:A:CF303L0.965
17:5033580:A:TF303L0.965
17:5033582:A:GF303L0.965
17:5034027:A:CS154R0.965
17:5034027:A:TS154R0.965
17:5034029:T:GS154R0.965
17:5033306:G:CS363R0.964
17:5033306:G:TS363R0.964
17:5033308:T:GS363R0.964
17:5033856:G:CF211L0.964
17:5033856:G:TF211L0.964
17:5033858:A:GF211L0.964
17:5033583:G:CS302R0.963
17:5033583:G:TS302R0.963
17:5033585:T:GS302R0.963
17:5033901:G:CF196L0.959
17:5033901:G:TF196L0.959
17:5033903:A:GF196L0.959
17:5034093:G:CF132L0.958
17:5034093:G:TF132L0.958
17:5034095:A:GF132L0.958
17:5032996:A:CF436L0.951
17:5032996:A:TF436L0.951
17:5032998:A:GF436L0.951
17:5034084:G:CF135L0.950
17:5034084:G:TF135L0.950
17:5034086:A:GF135L0.950
17:5034354:C:AW45C0.948
17:5034354:C:GW45C0.948
17:5034508:C:AE33D0.941

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

DiseaseClassificationInheritance
ariboflavinosisModerateAutosomal dominant
maternal riboflavin deficiencySupportiveAutosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

DiseaseClassificationInheritance
maternal riboflavin deficiencyModerateAD

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):

HPOTerm
HP:0000006Autosomal dominant inheritance
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001942Metabolic acidosis
HP:0001943Hypoglycemia
HP:0002033Poor suck
HP:0002045Hypothermia
HP:0003128Lactic acidosis
HP:0003215Dicarboxylic aciduria
HP:0045045Elevated circulating acylcarnitine concentration
HP:0100504Decreased circulating vitamin B2 concentration

GWAS associations

3 associations (top):

StudyTraitp-value
GCST004744_24Lung adenocarcinoma5.000000e-06
GCST90000047_220Age at first sexual intercourse5.000000e-08
GCST90013442_27Keratoconus2.000000e-14

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0009749age 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.

ChemicalActions (top 5)PubMed papers
sodium arseniteincreases expression, affects cotreatment, decreases expression, increases abundance2
Arsenicincreases abundance, affects methylation, affects cotreatment, decreases expression2
Benzo(a)pyrenedecreases methylation, increases expression2
Tobacco Smoke Pollutiondecreases expression2
Aflatoxin B1increases expression2
propionaldehydeincreases expression1
butyraldehydeincreases expression1
manganese chlorideaffects cotreatment, decreases expression, increases abundance1
nutlin 3affects cotreatment, increases expression1
jinfukangincreases expression, affects cotreatment1
Resveratroldecreases expression, affects cotreatment1
Fulvestrantincreases methylation1
Camptothecinincreases expression1
Cisplatinaffects cotreatment, increases expression1
Dactinomycinaffects cotreatment, increases expression1
Estradiolaffects cotreatment, decreases expression1
Formaldehydedecreases expression1
Manganeseincreases abundance, affects cotreatment, decreases expression1
Plant Extractsaffects cotreatment, decreases expression1
Valproic Acidincreases methylation1
Zincincreases expression1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_D4W1LS180-SLC52A1-KO-c6Cancer cell lineFemale
CVCL_D4W2LS180-SLC52A1-KO-c8Cancer cell lineFemale

Clinical trials (associated diseases)

1 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT05687474Not specifiedCOMPLETEDBaby Detect : Genomic Newborn Screening