AlphaFold predicted structure
FOLR1 · P15328
Mean pLDDT
91.2/ 100
Very high
257 residues
Confidence breakdown
- Very high(≥ 90)76%
- Confident(70–90)17%
- Low(50–70)7%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
FOLR1
Chr 11q13.4folate receptor alpha
- Aliases:
- FRα
- MANE:
- ENST00000393676.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalCerebral folate deficiency
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
neurodegenerative syndrome due to cerebral folate transport deficiency
0.81ovarian cancer
0.53neoplasm
0.50fallopian tube neoplasm
0.46peritoneal neoplasm
0.46malignant epithelial tumor of ovary
0.45Seizure
0.41fallopian tube cancer
0.39primary peritoneal carcinoma
0.39ovarian neoplasm
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Folate receptor alpha
Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells (PubMed:19074442, PubMed:23851396, PubMed:23934049, PubMed:2527252, PubMed:8033114, PubMed:8567728). Has high affinity for folate and folic acid analogs at neutral pH (PubMed:23851396, PubMed:23934049, PubMed:2527252, PubMed:8033114, PubMed:8567728). Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release (PubMed:8567728). Required for normal embryonic development and normal cell proliferation (By similarity)
Diseases associated with FOLR1
Curated MONDO disease pages that list FOLR1 among their top associated genes.