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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FOLR1
folate receptor alpha
Chromosome 11 · 11q13.4
NCBI Gene: 2348Ensembl: ENSG00000110195.15HGNC: HGNC:3791UniProt: P15328
171PubMed Papers
21Diseases
4Drugs
30Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTransporter
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusextracellular exosomefolic acid receptor activityfolic acid bindingneurodegenerative syndrome due to cerebral folate transport deficiencyneoplasmovarian cancerperitoneal neoplasm
✦AI Summary

FOLR1 encodes folate receptor alpha (FRα), a glycosylphosphatidylinositol-anchored membrane protein that mediates cellular uptake of folate and reduced folic acid derivatives, particularly 5-methyltetrahydrofolate 12. FRα binds folates with high affinity at neutral pH; receptor-mediated endocytosis and acidic pH trigger conformational changes that release folates intracellularly 3. Beyond folate transport, emerging evidence indicates FOLR1 participates in signaling pathways including JAK-STAT3 and ERK1/2, independent of one-carbon metabolism 4. FRα is essential for normal embryonic development and cell proliferation 5. Clinically, FOLR1 is highly overexpressed in multiple cancers, including ovarian, non-small-cell lung, and colon cancers, correlating with increased progression and poor prognosis 6. This expression pattern makes FRα an excellent therapeutic target; mirvetuximab soravtansine, an antibody-drug conjugate targeting FRα, demonstrated superior progression-free survival (5.62 vs. 3.98 months) and overall survival (16.46 vs. 12.75 months) in platinum-resistant ovarian cancer 7. Additionally, FOLR1 dysfunction causes cerebral folate deficiency syndrome; loss-of-function FOLR1 mutations or FRα-directed autoantibodies impair brain folate transport, causing neuropsychiatric disorders 8. Folinic acid, bypassing impaired FRα-mediated transport via alternative pathways, shows therapeutic promise in autism spectrum disorder patients with FRα autoantibodies 5.

Sources cited
1
FRα binds folate and reduced folic acid derivatives with high affinity at neutral pH
PMID: 23851396
2
FRα mediates delivery of 5-methyltetrahydrofolate and folate analogs into cells
PMID: 23934049
3
Acidic pH after receptor endocytosis triggers conformational change that reduces FRα affinity for folates and mediates their release
PMID: 8567728
4
FOLR1 participates in signaling pathways including JAK-STAT3 and ERK1/2 independent of one-carbon metabolism
PMID: 35094917
5
FOLR1 is essential for normal neurodevelopment; FRα autoantibodies impair brain folate transport in autism spectrum disorder
PMID: 32892962
6
FRα is overexpressed in ovarian cancer, non-small-cell lung cancer, and colon cancer, correlating with poor prognosis
PMID: 38256120
7
Mirvetuximab soravtansine targeting FRα showed superior progression-free survival and overall survival in platinum-resistant ovarian cancer
PMID: 38055253
8
Loss-of-function FOLR1 mutations and FRα autoantibodies cause cerebral folate deficiency syndrome with neuropsychiatric manifestations
PMID: 35956272
Disease Associationsⓘ21
neurodegenerative syndrome due to cerebral folate transport deficiencyOpen Targets
0.81Strong
neoplasmOpen Targets
0.50Moderate
ovarian cancerOpen Targets
0.48Moderate
peritoneal neoplasmOpen Targets
0.47Moderate
fallopian tube neoplasmOpen Targets
0.46Moderate
SeizureOpen Targets
0.41Moderate
ovarian neoplasmOpen Targets
0.37Weak
malignant epithelial tumor of ovaryOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
non-small cell lung carcinomaOpen Targets
0.27Weak
Epileptic encephalopathyOpen Targets
0.26Weak
alcohol drinkingOpen Targets
0.14Weak
cancerOpen Targets
0.11Weak
gastrointestinal stromal tumorOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
endometrial cancerOpen Targets
0.10Suggestive
gastric cancerOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
triple-negative breast cancerOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
Neurodegeneration due to cerebral folate transport deficiencyUniProt
Pathogenic Variants30
NM_016729.3(FOLR1):c.352C>T (p.Gln118Ter)Pathogenic
Cerebral folate transport deficiency|not provided
★★☆☆2025→ Residue 118
NM_016729.3(FOLR1):c.358-2A>GLikely pathogenic
Cerebral folate transport deficiency|not provided
★★☆☆2025
NM_016729.3(FOLR1):c.610C>T (p.Arg204Ter)Likely pathogenic
not provided|Cerebral folate transport deficiency
★★☆☆2023→ Residue 204
NM_016729.3(FOLR1):c.373C>T (p.Arg125Cys)Pathogenic
Cerebral folate transport deficiency|not provided
★★☆☆2022→ Residue 125
NM_016729.3(FOLR1):c.465_466delinsTG (p.Trp156Gly)Pathogenic
Cerebral folate transport deficiency
★☆☆☆2025→ Residue 156
NM_016729.3(FOLR1):c.421C>T (p.Gln141Ter)Pathogenic
Cerebral folate transport deficiency
★☆☆☆2025→ Residue 141
NM_016729.3(FOLR1):c.590A>G (p.Tyr197Cys)Likely pathogenic
Cerebral folate transport deficiency
★☆☆☆2025→ Residue 197
NM_016729.3(FOLR1):c.466T>G (p.Trp156Gly)Likely pathogenic
Cerebral folate transport deficiency
★☆☆☆2024→ Residue 156
NM_016729.3(FOLR1):c.321C>A (p.Tyr107Ter)Pathogenic
Cerebral folate transport deficiency
★☆☆☆2024→ Residue 107
NM_016729.3(FOLR1):c.466dup (p.Trp156fs)Likely pathogenic
Cerebral folate transport deficiency
★☆☆☆2024→ Residue 156
NM_016729.3(FOLR1):c.496_514del (p.Phe166fs)Pathogenic
Cerebral folate transport deficiency
★☆☆☆2024→ Residue 166
NM_016729.3(FOLR1):c.134_143del (p.Glu45fs)Likely pathogenic
not provided
★☆☆☆2024→ Residue 45
NM_016729.3(FOLR1):c.428G>A (p.Trp143Ter)Pathogenic
Cerebral folate transport deficiency
★☆☆☆2023→ Residue 143
NM_016729.3(FOLR1):c.327C>A (p.Cys109Ter)Pathogenic
Cerebral folate transport deficiency
★☆☆☆2023→ Residue 109
NM_016729.3(FOLR1):c.330_333dup (p.Asn112fs)Pathogenic
Cerebral folate transport deficiency
★☆☆☆2023→ Residue 112
NM_016729.3(FOLR1):c.181_182del (p.Arg61fs)Pathogenic
Cerebral folate transport deficiency
★☆☆☆2023→ Residue 61
NM_016729.3(FOLR1):c.227del (p.Lys76fs)Pathogenic
not provided
★☆☆☆2022→ Residue 76
NM_016729.3(FOLR1):c.525C>A (p.Cys175Ter)Pathogenic
Cerebral folate transport deficiency
★☆☆☆2022→ Residue 175
NM_016729.3(FOLR1):c.172C>T (p.Arg58Ter)Likely pathogenic
Cerebral folate transport deficiency
★☆☆☆2022→ Residue 58
NM_016729.3(FOLR1):c.257G>A (p.Trp86Ter)Pathogenic
Cerebral folate transport deficiency
★☆☆☆2022→ Residue 86
View on ClinVar ↗
Drug Targets4
FARLETUZUMABPhase III
Folate receptor alpha inhibitor
non-small cell lung carcinoma
MIRVETUXIMABPhase II
Folate receptor alpha binding agent
ovarian cancer
MIRVETUXIMAB SORAVTANSINEApproved
Folate receptor alpha binding agent
ovarian cancer
VINTAFOLIDEApproved
Folate receptor alpha binding agent
neoplasm
Related Genes
FOLH1Protein interaction82%EGFRProtein interaction78%PCBP1Protein interaction76%MSLNProtein interaction76%SLC46A1Protein interaction56%NREPShared pathway18%
Tissue Expression6 tissues
Lung
100%
Brain
17%
Bone Marrow
2%
Heart
1%
Liver
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
FOLR1FOLH1EGFRPCBP1MSLNSLC46A1NREP
PROTEIN STRUCTURE
Preparing viewer…
PDB4KM6 · 1.55 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.73LoF Tolerant
pLIⓘ
0.14Tolerant
Observed/Expected LoF0.44 [0.28–0.73]
RankingsWhere FOLR1 stands among ~20K protein-coding genes
  • #2,575of 20,598
    Most Researched171 · top quartile
  • #566of 1,025
    FDA-Approved Drug Targets2
  • #1,795of 5,498
    Most Pathogenic Variants30
  • #5,737of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedFOLR1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Mirvetuximab Soravtansine in FRα-Positive, Platinum-Resistant Ovarian Cancer.
PMID: 38055253
N Engl J Med · 2023
1.00
2
Treatment of Folate Metabolism Abnormalities in Autism Spectrum Disorder.
PMID: 32892962
Semin Pediatr Neurol · 2020
0.90
3
Folate Receptor Alpha-A Novel Approach to Cancer Therapy.
PMID: 38256120
Int J Mol Sci · 2024
0.80
4
Emerging roles for folate receptor FOLR1 in signaling and cancer.
PMID: 35094917
Trends Endocrinol Metab · 2022
0.70
5
Patient-reported outcomes from the MIRASOL trial evaluating mirvetuximab soravtansine versus chemotherapy in patients with folate receptor α-positive, platinum-resistant ovarian cancer: a randomised, open-label, phase 3 trial.
PMID: 40179908
Lancet Oncol · 2025
0.68