FOLR1

The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene.

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. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release. Required for normal embryonic development and normal cell proliferation.

Anterior neural tube closure Source: BHF-UCL
Axon regeneration Source: BHF-UCL
Cardiac neural crest cell migration involved in outflow tract morphogenesis Source: BHF-UCL
Cell adhesion Source: GO_Central
Cellular response to folic acid Source: BHF-UCL
Folate import across plasma membrane Source: InterPro
Folic acid metabolic process Source: Ensembl
Folic acid transport Source: UniProtKB
Fusion of sperm to egg plasma membrane involved in single fertilization Source: GO_Central
Heart looping Source: BHF-UCL
Neural crest cell migration involved in heart formation Source: BHF-UCL
Pharyngeal arch artery morphogenesis Source: BHF-UCL
Receptor-mediated endocytosis Source: ProtInc
Regulation of canonical Wnt signaling pathway Source: BHF-UCL
Regulation of transforming growth factor beta receptor signaling pathway Source: BHF-UCL
Sperm-egg recognition Source: GO_Central

Cell membrane; Apical cell membrane; Endosome; Secreted; Cytoplasmic vesicle; Clathrin-coated vesicle. Endocytosed into cytoplasmic vesicles and then recycled to the cell membrane.

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.

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.