FOLR1 (Folate Receptor Alpha)
Key mediator of folate transport and a therapeutic target in cancer and developmental disorders
Gene Information Card
| Symbol | FOLR1 |
|---|---|
| Full Name | Folate Receptor Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 2348 ncbi.nlm.nih.gov/gene/2348 |
| Ensembl ID | ENSG00000110195 |
| UniProt ID | P15328 |
| OMIM ID | 136430 |
| HGNC ID | 3791 |
| Aliases | FR-alpha, FBP, FOLR, FRalpha |
Description
FOLR1 encodes the folate receptor alpha (FRα), a glycosylphosphatidylinositol (GPI)-anchored membrane protein that binds and internalizes folate. It is essential for cellular folate uptake and is highly expressed in certain epithelial tissues and cancers, making it a target for therapeutic and diagnostic applications.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neural tube defects | Reduced folate transport due to FOLR1 mutations impairs neural tube closure during embryogenesis | OMIM #136430; PMID: 20036353 |
| Ovarian cancer | FRα overexpression facilitates folate-dependent tumor growth and is a target for antibody-drug conjugates (e.g., mirvetuximab soravtansine) | ClinVar; PMID: 32084333 |
| Folate receptor alpha deficiency | Biallelic loss-of-function mutations cause cerebral folate transport deficiency, leading to neurological symptoms | OMIM #613068 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Breast | 6.1 | Low |
| Ovary | 4.7 | Low |
| Placenta | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer line; high FRα expression |
| OVCAR-3 | 18.7 | Ovarian cancer line; used in FRα-targeted therapy studies |
| MCF-7 | 2.1 | Breast cancer line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Thr67Ile) | Missense | Rare | Reduced folate binding; associated with neural tube defects |
| c.458T>C (p.Leu153Pro) | Missense | Rare | Impaired GPI-anchor attachment; loss of function |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that disrupt folate binding or membrane localization lead to reduced cellular folate uptake.
Gain of Function (GOF)
Not documented; FOLR1 overexpression in cancer is due to transcriptional upregulation, not activating mutations.
Dominant Negative (DN)
Not reported for FOLR1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005542 – folate binding | • GO:0005886 – plasma membrane |
| • GO:0015884 – folic acid transport | • GO:0046655 – folic acid metabolic process |
| • GO:0031225 – anchored component of membrane |
Pathways
• Folate metabolism (Reactome: R-HSA-196757)
• Transport of vitamins and cofactors (Reactome: R-HSA-425410)
Protein Summary
Folate receptor alpha (FRα) is a 38 kDa GPI-anchored glycoprotein that binds folic acid and reduced folates with high affinity. It mediates cellular folate uptake via receptor-mediated endocytosis. FRα is expressed on the apical surface of polarized epithelial cells and is overexpressed in several cancers, particularly ovarian, lung, and breast cancers. Its restricted normal tissue expression and tumor-specific upregulation make it an attractive target for cancer therapeutics, including antibody-drug conjugates and folate-linked imaging agents.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FOLR1 Knockout HEK293 Cell Line | EDJ-KQ17719 | Human | 2348 | Details Get a Quote |
| FOLR1 Knockout HeLa Cell Line | EDJ-KQ18300 | Human | 2348 | Details Get a Quote |
| FOLR1 Knockout HCT 116 Cell Line | EDC10324 | Human | 2348 | Details Get a Quote |
| FOLR1 Knockout A-549 Cell Line | EDJ-KQ61743 | Human | 2348 | Details Get a Quote |
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