Folate receptor 1

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FOLR1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases FOLR1, FBP, FOLR, Folate receptor 1, folate receptor 1 (adult)
External IDs MGI: 95568 HomoloGene: 7322 GeneCards: FOLR1
RNA expression pattern
PBB GE FOLR1 204437 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_016730
NM_000802
NM_016724
NM_016725
NM_016729

NM_001252552
NM_001252553
NM_001252554
NM_008034

RefSeq (protein)

NP_000793
NP_057936
NP_057937
NP_057941

NP_001239481
NP_001239482
NP_001239483
NP_032060

Location (UCSC) Chr 11: 72.19 – 72.2 Mb Chr 7: 101.86 – 101.87 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Folate receptor alpha is a protein that in humans is encoded by the FOLR1 gene.[3][4]

The protein encoded by this gene is a member of the folate receptor (FOLR) family. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells.

This gene is composed of 7 exons; exons 1 through 4 encode the 5' UTR and exons 4 through 7 encode the open reading frame. Due to the presence of 2 promoters, multiple transcription start sites, and alternative splicing of exons, several transcript variants are derived from this gene. These variants differ in the lengths of 5' and 3' UTR, but they encode an identical amino acid sequence.[4]

Clinical significance[edit]

FRA can be overexpressed by a number of epithelial-derived tumors including ovarian, breast, renal, lung, colorectal, and brain. Hence antibodies to it are used in targeted therapies and diagnostic tests, e.g. farletuzumab in phase III trial for ovarian cancer.

Autoantibodies to the FRA have been linked to neurodevelopmental diseases, particularly cerebral folate deficiency[5] schizophrenia[5] and autism spectrum disorder.[6] Recent studies have shown that these neurodevelopmental disorders can be treated with leucovorin calcium.[6][7]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Campbell IG, Jones TA, Foulkes WD, Trowsdale J (Oct 1991). "Folate-binding protein is a marker for ovarian cancer". Cancer Res. 51 (19): 5329–38. PMID 1717147. 
  4. ^ a b "Entrez Gene: FOLR1 folate receptor 1 (adult)". 
  5. ^ a b Ramaekers VT, Rothenberg SP, Sequeira JM, Opladen T, Blau N, Quadros EV, Selhub J (May 2005). "Autoantibodies to folate receptors in the cerebral folate deficiency syndrome". The New England Journal of Medicine. 352 (19): 1985–91. PMID 15888699. doi:10.1056/NEJMoa043160. 
  6. ^ a b Frye RE, Sequeira JM, Quadros EV, James SJ, Rossignol DA (March 2013). "Cerebral folate receptor autoantibodies in autism spectrum disorder". Molecular Psychiatry. 18 (3): 369–81. PMC 3578948Freely accessible. PMID 22230883. doi:10.1038/mp.2011.175. 
  7. ^ Frye RE, Slattery J, Delhey L, Furgerson B, Strickland T, Tippett M, Sailey A, Wynne R, Rose S, Melnyk S, Jill James S, Sequeira JM, Quadros EV (October 2016). "Folinic acid improves verbal communication in children with autism and language impairment: a randomized double-blind placebo-controlled trial". Molecular Psychiatry. PMID 27752075. doi:10.1038/mp.2016.168. 

Further reading[edit]