FOLR1 (folate receptor alpha)

2003-02-01  

Identity

HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
FBP,FOLR,FRalpha,NCFTD
FUSION GENES

Other Information

Locus ID:

NCBI: 2348
MIM: 136430
HGNC: 3791
Ensembl: ENSG00000110195

Variants:

dbSNP: 2348
ClinVar: 2348
TCGA: ENSG00000110195
COSMIC: FOLR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110195ENST00000312293P15328
ENSG00000110195ENST00000312293A0A024R5H1
ENSG00000110195ENST00000393676P15328
ENSG00000110195ENST00000393676A0A024R5H1
ENSG00000110195ENST00000393679P15328
ENSG00000110195ENST00000393679A0A024R5H1
ENSG00000110195ENST00000393681P15328
ENSG00000110195ENST00000393681A0A024R5H1

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Cargo concentration in the ERREACTOMER-HSA-5694530
COPI-mediated anterograde transportREACTOMER-HSA-6807878
Antifolate resistanceKEGGko01523
Antifolate resistanceKEGGhsa01523

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA450428methotrexateChemicalPathwayassociated21317831

References

Pubmed IDYearTitleCitations
164532852006The role of folate receptor alpha in cancer development, progression and treatment: cause, consequence or innocent bystander?110
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
194933492009118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
174878422007Folate receptor overexpression is associated with poor outcome in breast cancer.59
190744422009A role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis.49
197328662009Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.44
227290362012High expression of folate receptor alpha in lung cancer correlates with adenocarcinoma histology and EGFR [corrected] mutation.40
170351412006Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.38
200367732010Expression of folate transporters in human placenta and implications for homocysteine metabolism.38

Citation

Dessen P

FOLR1 (folate receptor alpha)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40620/folr1