FOLR1
Function
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).
Involvement in disease
Neurodegeneration due to cerebral folate transport deficiency
NCFTD
An autosomal recessive neurodegenerative disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy and leukodystrophy.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The secreted form is derived from the membrane-bound form either by cleavage of the GPI anchor, or/and by proteolysis catalyzed by a metalloprotease.
Sequence Similarities
Belongs to the folate receptor family.
Tissue Specificity
Primarily expressed in tissues of epithelial origin. Expression is increased in malignant tissues. Expressed in kidney, lung and cerebellum. Detected in placenta and thymus epithelium.
Cellular localization
- Cell membrane
- Lipid-anchor
- GPI-anchor
- Apical cell membrane
- Lipid-anchor
- GPI-anchor
- Basolateral cell membrane
- Lipid-anchor
- GPI-like-anchor
- Secreted
- Cytoplasmic vesicle
- Cytoplasmic vesicle
- Clathrin-coated vesicle
- Endosome
- Endocytosed into cytoplasmic vesicles and then recycled to the cell membrane.
Alternative names
FOLR, FOLR1, Folate receptor alpha, FR-alpha, Adult folate-binding protein, Folate receptor 1, KB cells FBP, Ovarian tumor-associated antigen MOv18, FBP