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Aliases for FOLR1 Gene

Aliases for FOLR1 Gene

  • Folate Receptor 1 2 3 4 5
  • Ovarian Tumor-Associated Antigen MOv18 3 4
  • Adult Folate-Binding Protein 3 4
  • Folate Receptor 1 (Adult) 2 3
  • Folate Receptor, Adult 3 4
  • Folate Receptor Alpha 2 3
  • KB Cells FBP 3 4
  • FR-Alpha 3 4
  • FOLR 3 4
  • FBP 3 4
  • Folate Binding Protein 3

External Ids for FOLR1 Gene

Previous HGNC Symbols for FOLR1 Gene

  • FOLR

Previous GeneCards Identifiers for FOLR1 Gene

  • GC11P074232
  • GC11P073440
  • GC11P072123
  • GC11P071626
  • GC11P071578
  • GC11P071900
  • GC11P068193

Summaries for FOLR1 Gene

Entrez Gene Summary for FOLR1 Gene

  • 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. [provided by RefSeq, Oct 2009]

GeneCards Summary for FOLR1 Gene

FOLR1 (Folate Receptor 1) is a Protein Coding gene. Diseases associated with FOLR1 include Neurodegeneration Due To Cerebral Folate Transport Deficiency and Cerebral Folate Deficiency. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. GO annotations related to this gene include receptor activity and folic acid transporter activity. An important paralog of this gene is FOLR2.

UniProtKB/Swiss-Prot for FOLR1 Gene

  • 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.

Gene Wiki entry for FOLR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOLR1 Gene

Genomics for FOLR1 Gene

Regulatory Elements for FOLR1 Gene

Enhancers for FOLR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F071693 0.6 FANTOM5 1.5 -496.3 -496346 0.1 ZFHX2 RAD51 KDM1A MLLT1 MGA EGR2 KRTAP5-11 FOLR1 PIR57181 ENSG00000254972
GH11F072189 1 Ensembl ENCODE 0.8 +1.5 1502 3.8 TBP KLF1 MXI1 TAF1 MAX ZNF316 ZFHX2 POLR2A SMC3 CHD2 FOLR3 PHOX2A NUMA1 ENSG00000256403 LRTOMT ENSG00000204971 FOLR1 GC11P072193 GC11P072195
GH11F072183 1.1 Ensembl ENCODE 0.4 -6.0 -5958 0.4 ELF3 HDAC1 CBX3 ARNT CREB3L1 RAD21 ZNF143 FOS CREM DEK PHOX2A ANAPC15 LAMTOR1 LRTOMT NUMA1 LOC100128494 ENSG00000256403 FOLR3 FOLR1 FOLR3P1
GH11F072180 1.1 FANTOM5 Ensembl ENCODE 0.4 -8.2 -8225 1.4 CTCF ZNF654 REST RAD21 FOLR3 PHOX2A ANAPC15 LAMTOR1 LRTOMT NUMA1 LOC100128494 ENSG00000256403 FOLR1 FOLR3P1
GH11F072173 0.7 ENCODE 0.3 -15.3 -15281 2.4 HLF CEBPB MAX EP300 BCL11B RARA JUND CEBPA CUX1 RCOR1 FOLR3 FOLR3P1 FOLR1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FOLR1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the FOLR1 gene promoter:

Genomic Location for FOLR1 Gene

Chromosome:
11
Start:
72,189,558 bp from pter
End:
72,196,323 bp from pter
Size:
6,766 bases
Orientation:
Plus strand

Genomic View for FOLR1 Gene

Genes around FOLR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOLR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOLR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOLR1 Gene

Proteins for FOLR1 Gene

  • Protein details for FOLR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15328-FOLR1_HUMAN
    Recommended name:
    Folate receptor alpha
    Protein Accession:
    P15328
    Secondary Accessions:
    • Q53EW2
    • Q6FGT8
    • Q6LC90
    • Q9UCT2

    Protein attributes for FOLR1 Gene

    Size:
    257 amino acids
    Molecular mass:
    29819 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for FOLR1 Gene

neXtProt entry for FOLR1 Gene

Post-translational modifications for FOLR1 Gene

  • 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.
  • Glycosylation at Asn 69, Asn 161, and Asn 201

Other Protein References for FOLR1 Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for FOLR1
  • Santa Cruz Biotechnology (SCBT) Antibodies for FOLR1

No data available for DME Specific Peptides for FOLR1 Gene

Domains & Families for FOLR1 Gene

Protein Domains for FOLR1 Gene

Suggested Antigen Peptide Sequences for FOLR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15328

UniProtKB/Swiss-Prot:

FOLR1_HUMAN :
  • Belongs to the folate receptor family.
Family:
  • Belongs to the folate receptor family.
genes like me logo Genes that share domains with FOLR1: view

No data available for Gene Families for FOLR1 Gene

Function for FOLR1 Gene

Molecular function for FOLR1 Gene

GENATLAS Biochemistry:
folate receptor 1,adult
UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for FOLR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 10633085
GO:0005542 folic acid binding NAS 1840502
GO:0008144 drug binding IPI 19116913
GO:0008517 folic acid transporter activity IEA,IMP 8033114
GO:0051870 methotrexate binding IDA 19116913
genes like me logo Genes that share ontologies with FOLR1: view
genes like me logo Genes that share phenotypes with FOLR1: view

Human Phenotype Ontology for FOLR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FOLR1 Gene

MGI Knock Outs for FOLR1:

Animal Model Products

miRNA for FOLR1 Gene

miRTarBase miRNAs that target FOLR1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FOLR1 Gene

Localization for FOLR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOLR1 Gene

Cell membrane; Lipid-anchor, GPI-anchor. Secreted. Cytoplasmic vesicle. Cytoplasmic vesicle, clathrin-coated vesicle. Endosome. Apical cell membrane. Note=Endocytosed into cytoplasmic vesicles and then recycled to the cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FOLR1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
endoplasmic reticulum 4
golgi apparatus 4
endosome 3

Gene Ontology (GO) - Cellular Components for FOLR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IDA 23243496
GO:0005768 endosome IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with FOLR1: view

Pathways & Interactions for FOLR1 Gene

genes like me logo Genes that share pathways with FOLR1: view

Pathways by source for FOLR1 Gene

Gene Ontology (GO) - Biological Process for FOLR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping ISS --
GO:0003147 neural crest cell migration involved in heart formation ISS --
GO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis ISS --
GO:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
genes like me logo Genes that share ontologies with FOLR1: view

No data available for SIGNOR curated interactions for FOLR1 Gene

Drugs & Compounds for FOLR1 Gene

(16) Drugs for FOLR1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methotrexate Approved Pharma Transporter, substrate Folate antagonist,inhibits DFHR 1518
Folic Acid Approved, Vet_approved Nutra 4279
Farletuzumab Investigational Pharma antagonist, Target, antibody 0
EC145 Investigational Pharma Target 0
Epofolate Pharma Others 0

(13) Additional Compounds for FOLR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FOLR1: view

Transcripts for FOLR1 Gene

Unigene Clusters for FOLR1 Gene

Folate receptor 1 (adult):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FOLR1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1: -
SP2: - -
SP3:

Relevant External Links for FOLR1 Gene

GeneLoc Exon Structure for
FOLR1
ECgene alternative splicing isoforms for
FOLR1

Expression for FOLR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FOLR1 Gene

mRNA differential expression in normal tissues according to GTEx for FOLR1 Gene

This gene is overexpressed in Lung (x13.8), Kidney - Cortex (x11.8), Minor Salivary Gland (x6.8), and Cervix - Endocervix (x4.1).

Protein differential expression in normal tissues from HIPED for FOLR1 Gene

This gene is overexpressed in Urine (25.9), Cerebrospinal fluid (19.9), and Milk (18.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FOLR1 Gene



Protein tissue co-expression partners for FOLR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FOLR1 Gene:

FOLR1

SOURCE GeneReport for Unigene cluster for FOLR1 Gene:

Hs.73769

mRNA Expression by UniProt/SwissProt for FOLR1 Gene:

P15328-FOLR1_HUMAN
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.
genes like me logo Genes that share expression patterns with FOLR1: view

Orthologs for FOLR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FOLR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FOLR1 34 35
  • 97.54 (n)
dog
(Canis familiaris)
Mammalia FOLR1 34
  • 86.87 (n)
-- 35
  • 82 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Folr1 34
  • 82.96 (n)
cow
(Bos Taurus)
Mammalia FOLR1 34 35 35
  • 82.19 (n)
mouse
(Mus musculus)
Mammalia Folr1 34 16 35
  • 81.4 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 63 (a)
ManyToMany
-- 35
  • 63 (a)
ManyToMany
-- 35
  • 61 (a)
ManyToMany
chicken
(Gallus gallus)
Aves FOLR1 34 35
  • 69.38 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia folr1 34
  • 64.61 (n)
MGC76048 34
zebrafish
(Danio rerio)
Actinopterygii zgc:165502 34
  • 63.65 (n)
FOLR1 35
  • 51 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
ManyToMany
-- 35
  • 31 (a)
ManyToMany
Species where no ortholog for FOLR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FOLR1 Gene

ENSEMBL:
Gene Tree for FOLR1 (if available)
TreeFam:
Gene Tree for FOLR1 (if available)

Paralogs for FOLR1 Gene

Paralogs for FOLR1 Gene

(3) SIMAP similar genes for FOLR1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for FOLR1 Gene

genes like me logo Genes that share paralogs with FOLR1: view

Variants for FOLR1 Gene

Sequence variations from dbSNP and Humsavar for FOLR1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121918405 Pathogenic 72,195,454(+) GGATC(C/T)AGCAG reference, stop-gained
rs121918406 Pathogenic 72,195,928(+) GCCTG(A/C/T)CAACC reference, synonymous-codon, stop-gained
rs144637717 Pathogenic 72,195,749(+) TCAGG(C/T)GAGGG splice-donor-variant
rs139633601 Uncertain significance 72,195,911(+) AGTGC(A/G)CAGTG reference, missense
rs143413500 Uncertain significance 72,192,330(+) ACAAG(C/T)TGCAT reference, synonymous-codon

Variation tolerance for FOLR1 Gene

Residual Variation Intolerance Score: 68.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.98; 20.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FOLR1 Gene

Human Gene Mutation Database (HGMD)
FOLR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOLR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FOLR1 Gene

Disorders for FOLR1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for FOLR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neurodegeneration due to cerebral folate transport deficiency
  • neurodegenerative syndrome due to cerebral folate transport deficiency
cerebral folate deficiency
  • neurodegeneration due to cerebral folate transport deficiency
acute necrotizing encephalitis
  • encephalitis, acute necrotizing
ovarian cancer
  • malignant ovarian tumor
pediatric osteosarcoma
  • childhood osteosarcoma
- elite association - COSMIC cancer census association via MalaCards
Search FOLR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FOLR1_HUMAN
  • Neurodegeneration due to cerebral folate transport deficiency (NCFTD) [MIM:613068]: A 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. {ECO:0000269 PubMed:19732866}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FOLR1

Genetic Association Database (GAD)
FOLR1
Human Genome Epidemiology (HuGE) Navigator
FOLR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FOLR1
genes like me logo Genes that share disorders with FOLR1: view

No data available for Genatlas for FOLR1 Gene

Publications for FOLR1 Gene

  1. Folate-binding protein is a marker for ovarian cancer. (PMID: 1717147) Campbell I.G. … Trowsdale J. (Cancer Res. 1991) 2 3 4 22 64
  2. Variations in folate pathway genes are associated with unexplained female infertility. (PMID: 19324355) AltmAoe S. … Nilsson T.K. (Fertil. Steril. 2010) 3 22 46 64
  3. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. (PMID: 19732866) Steinfeld R. … Gaertner J. (Am. J. Hum. Genet. 2009) 3 4 22 64
  4. Mutations in exons 2 and 3 of the FOLR1 gene in demented and non-demented elderly subjects. (PMID: 17912458) BAPttiger A.K. … Nilsson T.K. (Int. J. Mol. Med. 2007) 3 22 46 64
  5. Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. (PMID: 17035141) Boyles A.L. … Speer M.C. (Environ. Health Perspect. 2006) 3 22 46 64

Products for FOLR1 Gene

Sources for FOLR1 Gene

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